[ { "uniprot_canonical_ac": "Q8BP92-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BP92", "url": "https://www.uniprot.org/uniprotkb/Q8BP92" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 320, "chemical_mass": 37271.0, "gene_names": "Rcn2;Rcn2;Tcbp49", "protein_name": "Reticulocalbin-2", "disease": [], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8BP92", "url": "https://www.uniprot.org/uniprotkb/Q8BP92" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8BP92", "url": "https://www.uniprot.org/uniprotkb/Q8BP92" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "Q8BP92", "url": "https://www.uniprot.org/uniprotkb/Q8BP92" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q8BP92", "url": "https://www.uniprot.org/uniprotkb/Q8BP92" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BP92-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Thr300", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 300, "start_aa": "Thr", "end_pos": 300, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr300", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8BP92", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BP92" } ] } ] }, { "uniprot_canonical_ac": "Q8BP92-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Ser301", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 301, "start_aa": "Ser", "end_pos": 301, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser301", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8BP92", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BP92" } ] } ] }, { "uniprot_canonical_ac": "Q8BP92-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Thr304", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 304, "start_aa": "Thr", "end_pos": 304, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr304", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8BP92", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BP92" } ] } ] }, { "uniprot_canonical_ac": "Q8BP92-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Thr140", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BP92", "url": "https://www.uniprot.org/uniprotkb/Q8BP92" } ] } ] } ], "record_id": "Q8BP92-1" }, { "uniprot_canonical_ac": "Q9QYF1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QYF1", "url": "https://www.uniprot.org/uniprotkb/Q9QYF1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 316, "chemical_mass": 35148.0, "gene_names": "Rdh11;2610319N22Rik;Arsdr1;CGI-82;HCBP12;M42C60;Mdt1;Psdr1;Rdh11;SCALD;UBE-1c1;Ube-1c;ralR1", "protein_name": "Retinol dehydrogenase 11", "disease": [ { "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 } ], "biological_process": [ { "name": "retinoid metabolic process", "id": "GO:0001523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001523", "evidence": [ { "database": "UniProtKB", "id": "Q9QYF1", "url": "https://www.uniprot.org/uniprotkb/Q9QYF1" } ], "pmid": "" }, { "name": "retinol metabolic process", "id": "GO:0042572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042572", "evidence": [ { "database": "UniProtKB", "id": "Q9QYF1", "url": "https://www.uniprot.org/uniprotkb/Q9QYF1" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q9QYF1", "url": "https://www.uniprot.org/uniprotkb/Q9QYF1" } ], "pmid": "" }, { "name": "retinal metabolic process", "id": "GO:0042574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042574", "evidence": [ { "database": "UniProtKB", "id": "Q9QYF1", "url": "https://www.uniprot.org/uniprotkb/Q9QYF1" } ], "pmid": "" }, { "name": "cellular detoxification of aldehyde", "id": "GO:0110095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110095", "evidence": [ { "database": "UniProtKB", "id": "Q9QYF1", "url": "https://www.uniprot.org/uniprotkb/Q9QYF1" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9QYF1", "url": "https://www.uniprot.org/uniprotkb/Q9QYF1" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": "GO:0001917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "evidence": [ { "database": "UniProtKB", "id": "Q9QYF1", "url": "https://www.uniprot.org/uniprotkb/Q9QYF1" } ], "pmid": "" } ], "molecular_function": [ { "name": "all-trans-retinol dehydrogenase (NAD+) activity", "id": "GO:0004745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004745", "evidence": [ { "database": "UniProtKB", "id": "Q9QYF1", "url": "https://www.uniprot.org/uniprotkb/Q9QYF1" } ], "pmid": "" }, { "name": "all-trans-retinol dehydrogenase (NADP+) activity", "id": "GO:0052650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052650", "evidence": [ { "database": "UniProtKB", "id": "Q9QYF1", "url": "https://www.uniprot.org/uniprotkb/Q9QYF1" } ], "pmid": "" }, { "name": "aldehyde dehydrogenase (NADP+) activity", "id": "GO:0033721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033721", "evidence": [ { "database": "UniProtKB", "id": "Q9QYF1", "url": "https://www.uniprot.org/uniprotkb/Q9QYF1" } ], "pmid": "" }, { "name": "11-cis-retinol dehydrogenase (NADP+) activity", "id": "GO:0102354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102354", "evidence": [ { "database": "UniProtKB", "id": "Q9QYF1", "url": "https://www.uniprot.org/uniprotkb/Q9QYF1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9QYF1-1" }, { "uniprot_canonical_ac": "Q8CJ96-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CJ96", "url": "https://www.uniprot.org/uniprotkb/Q8CJ96" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 419, "chemical_mass": 48103.0, "gene_names": "Rassf8;5133400D11Rik;Hoj1;Rassf8;mHoj-1", "protein_name": "Ras association domain-containing protein 8", "disease": [ { "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 } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ96", "url": "https://www.uniprot.org/uniprotkb/Q8CJ96" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CJ96-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Ser105", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ96", "url": "https://www.uniprot.org/uniprotkb/Q8CJ96" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ96-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Ser129", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ96", "url": "https://www.uniprot.org/uniprotkb/Q8CJ96" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ96-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Thr131", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ96", "url": "https://www.uniprot.org/uniprotkb/Q8CJ96" } ] } ] }, { "uniprot_canonical_ac": "Q8CJ96-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Ser387", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ96", "url": "https://www.uniprot.org/uniprotkb/Q8CJ96" } ] } ] } ], "record_id": "Q8CJ96-1" }, { "uniprot_canonical_ac": "Q9CQK3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQK3", "url": "https://www.uniprot.org/uniprotkb/Q9CQK3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 281, "chemical_mass": 31235.0, "gene_names": "Rdm1;2410008M22Rik;Rad52b;Rdm1", "protein_name": "RAD52 motif-containing 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": "Q9CQK3", "url": "https://www.uniprot.org/uniprotkb/Q9CQK3" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9CQK3", "url": "https://www.uniprot.org/uniprotkb/Q9CQK3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9CQK3", "url": "https://www.uniprot.org/uniprotkb/Q9CQK3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9CQK3", "url": "https://www.uniprot.org/uniprotkb/Q9CQK3" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "Q9CQK3", "url": "https://www.uniprot.org/uniprotkb/Q9CQK3" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "Q9CQK3", "url": "https://www.uniprot.org/uniprotkb/Q9CQK3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CQK3-1" }, { "uniprot_canonical_ac": "Q8BQP8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 635, "chemical_mass": 71901.0, "gene_names": "Rab11fip4;A730072L08Rik;Kiaa1821;RAB11-FIP4;Rab11fip4;mKIAA1821", "protein_name": "Rab11 family-interacting protein 4", "disease": [], "biological_process": [ { "name": "neural retina development", "id": "GO:0003407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003407", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" }, { "name": "regulation of cytokinesis", "id": "GO:0032465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032465", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" }, { "name": "positive regulation of G1 to G0 transition", "id": "GO:1903452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903452", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" } ], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" }, { "name": "cleavage furrow", "id": "GO:0032154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032154", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" }, { "name": "sperm head-tail coupling apparatus", "id": "GO:0120212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120212", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q8BQP8", "url": "https://www.uniprot.org/uniprotkb/Q8BQP8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BQP8-1" }, { "uniprot_canonical_ac": "Q8VCG9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VCG9", "url": "https://www.uniprot.org/uniprotkb/Q8VCG9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 231, "chemical_mass": 24787.0, "gene_names": "Rfxap;5730495K23Rik;Rfxap", "protein_name": "Regulatory factor X-associated protein", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8VCG9", "url": "https://www.uniprot.org/uniprotkb/Q8VCG9" } ], "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": "Q8VCG9", "url": "https://www.uniprot.org/uniprotkb/Q8VCG9" } ], "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": "Q8VCG9", "url": "https://www.uniprot.org/uniprotkb/Q8VCG9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VCG9", "url": "https://www.uniprot.org/uniprotkb/Q8VCG9" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q8VCG9", "url": "https://www.uniprot.org/uniprotkb/Q8VCG9" } ], "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": "Q8VCG9", "url": "https://www.uniprot.org/uniprotkb/Q8VCG9" } ], "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": "Q8VCG9", "url": "https://www.uniprot.org/uniprotkb/Q8VCG9" } ], "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": "Q8VCG9", "url": "https://www.uniprot.org/uniprotkb/Q8VCG9" } ], "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": "Q8VCG9", "url": "https://www.uniprot.org/uniprotkb/Q8VCG9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VCG9-1" }, { "uniprot_canonical_ac": "Q61193-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61193", "url": "https://www.uniprot.org/uniprotkb/Q61193" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 778, "chemical_mass": 83826.0, "gene_names": "Rgl2;KE1.5;Rab2l;Rgl2;Rgt2;Rlf", "protein_name": "Ral guanine nucleotide dissociation stimulator-like 2", "disease": [], "biological_process": [ { "name": "regulation of Ral protein signal transduction", "id": "GO:0032485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032485", "evidence": [ { "database": "UniProtKB", "id": "Q61193", "url": "https://www.uniprot.org/uniprotkb/Q61193" } ], "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": "Q61193", "url": "https://www.uniprot.org/uniprotkb/Q61193" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q61193", "url": "https://www.uniprot.org/uniprotkb/Q61193" } ], "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": "Q61193", "url": "https://www.uniprot.org/uniprotkb/Q61193" } ], "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": "Q61193", "url": "https://www.uniprot.org/uniprotkb/Q61193" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61193-1", "start_pos": "544", "end_pos": "544", "site_lbl": "Thr544", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 544, "start_aa": "Thr", "end_pos": 544, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr544", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q61193-1", "start_pos": "741", "end_pos": "741", "site_lbl": "Thr741", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 741, "start_aa": "Thr", "end_pos": 741, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr741", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q61193-1" }, { "uniprot_canonical_ac": "Q9EP95-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EP95", "url": "https://www.uniprot.org/uniprotkb/Q9EP95" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 111, "chemical_mass": 11936.0, "gene_names": "Retnla;1810019L16Rik;Fizz-1;Fizz1;HIMF;Himf;Pmng1;RELM-alpha;RELMalpha;RELMa;Retnla;Xcp2", "protein_name": "Resistin-like alpha", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9EP95", "url": "https://www.uniprot.org/uniprotkb/Q9EP95" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9EP95", "url": "https://www.uniprot.org/uniprotkb/Q9EP95" } ], "pmid": "" } ], "molecular_function": [ { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "Q9EP95", "url": "https://www.uniprot.org/uniprotkb/Q9EP95" } ], "pmid": "" } ], "biological_process": [ { "name": "response to selenium ion", "id": "GO:0010269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010269", "evidence": [ { "database": "UniProtKB", "id": "Q9EP95", "url": "https://www.uniprot.org/uniprotkb/Q9EP95" } ], "pmid": "" }, { "name": "response to nematode", "id": "GO:0009624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009624", "evidence": [ { "database": "UniProtKB", "id": "Q9EP95", "url": "https://www.uniprot.org/uniprotkb/Q9EP95" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9EP95-1" }, { "uniprot_canonical_ac": "P43352-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 420, "chemical_mass": 46910.0, "gene_names": "Rad52;Rad52yh;Rad52", "protein_name": "DNA repair protein RAD52 homolog", "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:0050904", "name": "salivary gland carcinoma", "description": "A salivary gland cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0050904", "evidence": [ { "id": "0050904", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050904" } ], "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: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: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:4531", "name": "mucoepidermoid carcinoma", "description": "A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation.", "url": "https://disease-ontology.org/term/DOID:4531", "evidence": [ { "id": "4531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4531" } ], "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: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": "mitotic recombination", "id": "GO:0006312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006312", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "double-strand break repair via single-strand annealing", "id": "GO:0045002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045002", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "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": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "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": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "DNA recombinase assembly", "id": "GO:0000730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000730", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "protein-DNA complex", "id": "GO:0032993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032993", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P43352-1", "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": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P43352", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P43352" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "P43352-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Thr313", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 313, "start_aa": "Thr", "end_pos": 313, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr313", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P43352", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P43352" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P43352", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P43352" } ] } ] }, { "uniprot_canonical_ac": "P43352-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Tyr105", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ] } ] }, { "uniprot_canonical_ac": "P43352-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Ser200", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ] } ] }, { "uniprot_canonical_ac": "P43352-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Thr339", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43352", "url": "https://www.uniprot.org/uniprotkb/P43352" } ] } ] }, { "uniprot_canonical_ac": "P43352-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Lys307", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KHS->NHS).", "chr_id": "6", "chr_pos": "119897093", "evidence": [ { "id": "rs3388844835", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388844835" } ] } ] } ], "record_id": "P43352-1" }, { "uniprot_canonical_ac": "Q91YQ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 204, "chemical_mass": 23089.0, "gene_names": "Rab29;Rab7l1", "protein_name": "Ras-related protein Rab-29", "disease": [], "molecular_function": [ { "name": "kinase activator activity", "id": "GO:0019209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019209", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "kinesin binding", "id": "GO:0019894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019894", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "dynein complex binding", "id": "GO:0070840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070840", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "GDP binding", "id": "GO:0019003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" } ], "cellular_component": [ { "name": "intracellular vesicle", "id": "GO:0097708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097708", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "cis-Golgi network", "id": "GO:0005801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005801", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "vacuole", "id": "GO:0005773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005773", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "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": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "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": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "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": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "positive regulation of receptor recycling", "id": "GO:0001921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001921", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "melanosome organization", "id": "GO:0032438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032438", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "protein localization to membrane", "id": "GO:0072657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072657", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "retrograde transport, endosome to Golgi", "id": "GO:0042147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042147", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "protein localization to ciliary membrane", "id": "GO:1903441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903441", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "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": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "regulation of retrograde transport, endosome to Golgi", "id": "GO:1905279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905279", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "cellular detoxification", "id": "GO:1990748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990748", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" }, { "name": "regulation of motile cilium assembly", "id": "GO:1905503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905503", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91YQ1-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Thr71", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ] } ] }, { "uniprot_canonical_ac": "Q91YQ1-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Ser72", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YQ1", "url": "https://www.uniprot.org/uniprotkb/Q91YQ1" } ] } ] } ], "record_id": "Q91YQ1-1" }, { "uniprot_canonical_ac": "Q9CZQ6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CZQ6", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 251, "chemical_mass": 28284.0, "gene_names": "Raet1e;Raet1e", "protein_name": "Retinoic acid early-inducible protein 1-epsilon", "disease": [], "biological_process": [ { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class Ib", "id": "GO:0002476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002476", "evidence": [ { "database": "UniProtKB", "id": "Q9CZQ6", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent", "id": "GO:0002486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002486", "evidence": [ { "database": "UniProtKB", "id": "Q9CZQ6", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6" } ], "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": "Q9CZQ6", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6" } ], "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": "Q9CZQ6", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6" } ], "pmid": "" }, { "name": "T cell mediated cytotoxicity", "id": "GO:0001913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001913", "evidence": [ { "database": "UniProtKB", "id": "Q9CZQ6", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6" } ], "pmid": "" }, { "name": "natural killer cell mediated cytotoxicity", "id": "GO:0042267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042267", "evidence": [ { "database": "UniProtKB", "id": "Q9CZQ6", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6" } ], "pmid": "" } ], "molecular_function": [ { "name": "natural killer cell lectin-like receptor binding", "id": "GO:0046703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046703", "evidence": [ { "database": "UniProtKB", "id": "Q9CZQ6", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "Q9CZQ6", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9CZQ6", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9CZQ6", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9CZQ6", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q9CZQ6", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9CZQ6", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9CZQ6", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CZQ6-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Asn141", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 141, "start_aa": "Asn", "end_pos": 141, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn141", "evidence": [ { "id": "Q9CZQ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9CZQ6-1", "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": "Q9CZQ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9CZQ6-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Asn38", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q9CZQ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9CZQ6-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Asn70", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 70, "start_aa": "Asn", "end_pos": 70, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn70", "evidence": [ { "id": "Q9CZQ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9CZQ6-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Asn83", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 83, "start_aa": "Asn", "end_pos": 83, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "Q9CZQ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9CZQ6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9CZQ6-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Asp95", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DLC->NLC).", "chr_id": "10", "chr_pos": "22056708", "evidence": [ { "id": "rs46332349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46332349" } ] } ] } ], "record_id": "Q9CZQ6-1" }, { "uniprot_canonical_ac": "O08602-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08602", "url": "https://www.uniprot.org/uniprotkb/O08602" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 253, "chemical_mass": 28616.0, "gene_names": "Raet1a;RAE-1alpha;Rae1alpha;Rae1a;Raet1a;Raet1", "protein_name": "Retinoic acid early-inducible protein 1-alpha", "disease": [], "biological_process": [ { "name": "cellular response to exogenous dsRNA", "id": "GO:0071360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071360", "evidence": [ { "database": "UniProtKB", "id": "O08602", "url": "https://www.uniprot.org/uniprotkb/O08602" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class Ib", "id": "GO:0002476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002476", "evidence": [ { "database": "UniProtKB", "id": "O08602", "url": "https://www.uniprot.org/uniprotkb/O08602" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent", "id": "GO:0002486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002486", "evidence": [ { "database": "UniProtKB", "id": "O08602", "url": "https://www.uniprot.org/uniprotkb/O08602" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "O08602", "url": "https://www.uniprot.org/uniprotkb/O08602" } ], "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": "O08602", "url": "https://www.uniprot.org/uniprotkb/O08602" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "O08602", "url": "https://www.uniprot.org/uniprotkb/O08602" } ], "pmid": "" }, { "name": "natural killer cell mediated cytotoxicity", "id": "GO:0042267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042267", "evidence": [ { "database": "UniProtKB", "id": "O08602", "url": "https://www.uniprot.org/uniprotkb/O08602" } ], "pmid": "" } ], "molecular_function": [ { "name": "natural killer cell lectin-like receptor binding", "id": "GO:0046703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046703", "evidence": [ { "database": "UniProtKB", "id": "O08602", "url": "https://www.uniprot.org/uniprotkb/O08602" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "O08602", "url": "https://www.uniprot.org/uniprotkb/O08602" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O08602", "url": "https://www.uniprot.org/uniprotkb/O08602" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O08602", "url": "https://www.uniprot.org/uniprotkb/O08602" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O08602", "url": "https://www.uniprot.org/uniprotkb/O08602" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "O08602", "url": "https://www.uniprot.org/uniprotkb/O08602" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O08602", "url": "https://www.uniprot.org/uniprotkb/O08602" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O08602", "url": "https://www.uniprot.org/uniprotkb/O08602" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O08602-1", "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": "O08602", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08602#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08602-1", "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": "O08602", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08602#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08602-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Asn38", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "O08602", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08602#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08602-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Asn70", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 70, "start_aa": "Asn", "end_pos": 70, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn70", "evidence": [ { "id": "O08602", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08602#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08602-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Asn83", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 83, "start_aa": "Asn", "end_pos": 83, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "O08602", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08602#ptm_processing" } ] } ] } ], "record_id": "O08602-1" }, { "uniprot_canonical_ac": "O08603-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 253, "chemical_mass": 28625.0, "gene_names": "Raet1b;RAE-1beta;Rae1b;Raet1b", "protein_name": "Retinoic acid early-inducible protein 1-beta", "disease": [], "biological_process": [ { "name": "cellular response to exogenous dsRNA", "id": "GO:0071360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071360", "evidence": [ { "database": "UniProtKB", "id": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class Ib", "id": "GO:0002476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002476", "evidence": [ { "database": "UniProtKB", "id": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "pmid": "" }, { "name": "positive regulation of macrophage activation", "id": "GO:0043032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043032", "evidence": [ { "database": "UniProtKB", "id": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "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": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent", "id": "GO:0002486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002486", "evidence": [ { "database": "UniProtKB", "id": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "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": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "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": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "pmid": "" }, { "name": "susceptibility to natural killer cell mediated cytotoxicity", "id": "GO:0042271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042271", "evidence": [ { "database": "UniProtKB", "id": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "pmid": "" }, { "name": "natural killer cell mediated cytotoxicity", "id": "GO:0042267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042267", "evidence": [ { "database": "UniProtKB", "id": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "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": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "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": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "pmid": "" } ], "molecular_function": [ { "name": "natural killer cell lectin-like receptor binding", "id": "GO:0046703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046703", "evidence": [ { "database": "UniProtKB", "id": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O08603", "url": "https://www.uniprot.org/uniprotkb/O08603" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O08603-1", "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": "O08603", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08603#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08603-1", "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": "O08603", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08603#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08603-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Asn38", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "O08603", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08603#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08603-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Asn70", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 70, "start_aa": "Asn", "end_pos": 70, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn70", "evidence": [ { "id": "O08603", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08603#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08603-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Asn83", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 83, "start_aa": "Asn", "end_pos": 83, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "O08603", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08603#ptm_processing" } ] } ] } ], "record_id": "O08603-1" }, { "uniprot_canonical_ac": "O08604-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 253, "chemical_mass": 28508.0, "gene_names": "Raet1c;RAE-1gamma;Rae1c;Raet1c", "protein_name": "Retinoic acid early-inducible protein 1-gamma", "disease": [], "biological_process": [ { "name": "cellular response to exogenous dsRNA", "id": "GO:0071360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071360", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class Ib", "id": "GO:0002476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002476", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent", "id": "GO:0002486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002486", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" } ], "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": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" } ], "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": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" } ], "pmid": "" }, { "name": "natural killer cell mediated cytotoxicity", "id": "GO:0042267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042267", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" } ], "pmid": "" } ], "molecular_function": [ { "name": "natural killer cell lectin-like receptor binding", "id": "GO:0046703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046703", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O08604-1", "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": "O08604", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08604#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08604-1", "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": "O08604", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08604#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08604-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Asn38", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "O08604", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08604#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08604-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Asn70", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 70, "start_aa": "Asn", "end_pos": 70, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn70", "evidence": [ { "id": "O08604", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08604#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08604-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Asn83", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 83, "start_aa": "Asn", "end_pos": 83, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "O08604", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08604#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08604-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Gln181", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "I", "comment": "Partial loss of binding to Murid herpesvirus 1 glycoprotein M152.", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" }, { "database": "PubMed", "id": "23169621", "url": "https://glygen.org/publication/PubMed/23169621" } ] } ] }, { "uniprot_canonical_ac": "O08604-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Lys184", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Partial loss of binding to Murid herpesvirus 1 glycoprotein M152.", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" }, { "database": "PubMed", "id": "23169621", "url": "https://glygen.org/publication/PubMed/23169621" } ] } ] }, { "uniprot_canonical_ac": "O08604-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Tyr185", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Partial loss of binding to Murid herpesvirus 1 glycoprotein M152.", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" }, { "database": "PubMed", "id": "23169621", "url": "https://glygen.org/publication/PubMed/23169621" } ] } ] }, { "uniprot_canonical_ac": "O08604-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Glu189", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Partial loss of binding to Murid herpesvirus 1 glycoprotein M152.", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" }, { "database": "PubMed", "id": "23169621", "url": "https://glygen.org/publication/PubMed/23169621" } ] }, { "sequence_org": "E", "sequence_mut": "W", "comment": "Partial loss of binding to Murid herpesvirus 1 glycoprotein M152.", "evidence": [ { "database": "UniProtKB", "id": "O08604", "url": "https://www.uniprot.org/uniprotkb/O08604" }, { "database": "PubMed", "id": "23169621", "url": "https://glygen.org/publication/PubMed/23169621" } ] } ] } ], "record_id": "O08604-1" }, { "uniprot_canonical_ac": "O08674-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08674", "url": "https://www.uniprot.org/uniprotkb/O08674" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 515, "chemical_mass": 56780.0, "gene_names": "Rbpjl;RBP-L;Rbpjl;Rbpl;Rbpsuhl", "protein_name": "Recombining binding protein suppressor of hairless-like protein", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O08674", "url": "https://www.uniprot.org/uniprotkb/O08674" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "O08674", "url": "https://www.uniprot.org/uniprotkb/O08674" } ], "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": "O08674", "url": "https://www.uniprot.org/uniprotkb/O08674" } ], "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": "O08674", "url": "https://www.uniprot.org/uniprotkb/O08674" } ], "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": "O08674", "url": "https://www.uniprot.org/uniprotkb/O08674" } ], "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": "O08674", "url": "https://www.uniprot.org/uniprotkb/O08674" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O08674", "url": "https://www.uniprot.org/uniprotkb/O08674" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "O08674", "url": "https://www.uniprot.org/uniprotkb/O08674" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O08674", "url": "https://www.uniprot.org/uniprotkb/O08674" } ], "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": "O08674", "url": "https://www.uniprot.org/uniprotkb/O08674" } ], "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": "O08674", "url": "https://www.uniprot.org/uniprotkb/O08674" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O08674-1" }, { "uniprot_canonical_ac": "O35698-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35698", "url": "https://www.uniprot.org/uniprotkb/O35698" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 380, "chemical_mass": 43216.0, "gene_names": "Rbmy;RBM;Rbm1-rs1;Rbm1;Rbmy1a1-rs1;Rbmy1a1;Rbmy1b;Rbmy;Rbm", "protein_name": "RNA-binding motif protein, Y chromosome", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O35698", "url": "https://www.uniprot.org/uniprotkb/O35698" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "O35698", "url": "https://www.uniprot.org/uniprotkb/O35698" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O35698", "url": "https://www.uniprot.org/uniprotkb/O35698" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O35698", "url": "https://www.uniprot.org/uniprotkb/O35698" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O35698", "url": "https://www.uniprot.org/uniprotkb/O35698" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O35698", "url": "https://www.uniprot.org/uniprotkb/O35698" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "O35698", "url": "https://www.uniprot.org/uniprotkb/O35698" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O35698", "url": "https://www.uniprot.org/uniprotkb/O35698" } ], "pmid": "" } ], "biological_process": [ { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "O35698", "url": "https://www.uniprot.org/uniprotkb/O35698" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "O35698", "url": "https://www.uniprot.org/uniprotkb/O35698" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O35698-1" }, { "uniprot_canonical_ac": "O88451-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88451", "url": "https://www.uniprot.org/uniprotkb/O88451" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 316, "chemical_mass": 35660.0, "gene_names": "Rdh7;CRAD2;Crad2;Rdh7", "protein_name": "Retinol dehydrogenase 7", "disease": [ { "disease_id": "DOID:0060419", "name": "chromosome 3q29 microdeletion syndrome", "description": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region.", "url": "https://disease-ontology.org/term/DOID:0060419", "evidence": [ { "id": "0060419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060419" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O88451", "url": "https://www.uniprot.org/uniprotkb/O88451" } ], "pmid": "" } ], "molecular_function": [ { "name": "all-trans-retinol dehydrogenase (NAD+) activity", "id": "GO:0004745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004745", "evidence": [ { "database": "UniProtKB", "id": "O88451", "url": "https://www.uniprot.org/uniprotkb/O88451" } ], "pmid": "" }, { "name": "catalytic activity", "id": "GO:0003824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003824", "evidence": [ { "database": "UniProtKB", "id": "O88451", "url": "https://www.uniprot.org/uniprotkb/O88451" } ], "pmid": "" }, { "name": "androsterone dehydrogenase [NAD(P)+] activity", "id": "GO:0047023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047023", "evidence": [ { "database": "UniProtKB", "id": "O88451", "url": "https://www.uniprot.org/uniprotkb/O88451" } ], "pmid": "" }, { "name": "androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity", "id": "GO:0047044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047044", "evidence": [ { "database": "UniProtKB", "id": "O88451", "url": "https://www.uniprot.org/uniprotkb/O88451" } ], "pmid": "" } ], "biological_process": [ { "name": "retinol metabolic process", "id": "GO:0042572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042572", "evidence": [ { "database": "UniProtKB", "id": "O88451", "url": "https://www.uniprot.org/uniprotkb/O88451" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "O88451", "url": "https://www.uniprot.org/uniprotkb/O88451" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O88451-1" }, { "uniprot_canonical_ac": "P00796-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 401, "chemical_mass": 44283.0, "gene_names": "Ren2;Ren-2;Ren-B;Ren2;Ren;Rn-2;Rnr", "protein_name": "Renin-2", "disease": [ { "disease_id": "DOID:0050811", "name": "congenital adrenal hyperplasia", "description": "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency.", "url": "https://disease-ontology.org/term/DOID:0050811", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ], "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:0061119", "name": "autosomal dominant tubulointerstitial kidney disease 4", "description": "An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0061119", "evidence": [ { "id": "0061119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061119" } ], "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:0080827", "name": "human cytomegalovirus infection", "description": "A viral infectious disease that has_material_basis_in Human betaherpesvirus 5 (Cytomegalovirus humanbeta5).", "url": "https://disease-ontology.org/term/DOID:0080827", "evidence": [ { "id": "0080827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080827" } ], "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: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: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: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:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "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: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: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:446", "name": "primary hyperaldosteronism", "description": "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:446", "evidence": [ { "id": "446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:446" } ], "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:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "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": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "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": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "aspartic-type endopeptidase activity", "id": "GO:0004190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004190", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "positive regulation of blood pressure", "id": "GO:0045777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045777", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "angiotensin maturation", "id": "GO:0002003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002003", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "maintenance of blood vessel diameter homeostasis by renin-angiotensin", "id": "GO:0002034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002034", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "angiotensin-activated signaling pathway", "id": "GO:0038166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038166", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "response to cGMP", "id": "GO:0070305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070305", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" }, { "name": "regulation of MAPK cascade", "id": "GO:0043408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "P00796", "url": "https://www.uniprot.org/uniprotkb/P00796" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P00796-1" }, { "uniprot_canonical_ac": "P06281-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 402, "chemical_mass": 44343.0, "gene_names": "Ren1;Ren-1;Ren-A;Ren1c;Ren1d;Ren1;Ren;Rn-1;Rnr", "protein_name": "Renin-1", "disease": [ { "disease_id": "DOID:0050811", "name": "congenital adrenal hyperplasia", "description": "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency.", "url": "https://disease-ontology.org/term/DOID:0050811", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ], "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:0061119", "name": "autosomal dominant tubulointerstitial kidney disease 4", "description": "An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0061119", "evidence": [ { "id": "0061119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061119" } ], "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:0080827", "name": "human cytomegalovirus infection", "description": "A viral infectious disease that has_material_basis_in Human betaherpesvirus 5 (Cytomegalovirus humanbeta5).", "url": "https://disease-ontology.org/term/DOID:0080827", "evidence": [ { "id": "0080827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080827" } ], "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: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: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: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:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "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: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: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:446", "name": "primary hyperaldosteronism", "description": "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:446", "evidence": [ { "id": "446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:446" } ], "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:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "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": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "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": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "aspartic-type endopeptidase activity", "id": "GO:0004190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004190", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "angiotensin maturation", "id": "GO:0002003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002003", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "maintenance of blood vessel diameter homeostasis by renin-angiotensin", "id": "GO:0002034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002034", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "renin-angiotensin regulation of aldosterone production", "id": "GO:0002018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002018", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "hormone-mediated signaling pathway", "id": "GO:0009755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009755", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "angiotensin-activated signaling pathway", "id": "GO:0038166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038166", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "drinking behavior", "id": "GO:0042756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042756", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "regulation of blood volume by renin-angiotensin", "id": "GO:0002016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002016", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "response to immobilization stress", "id": "GO:0035902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035902", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "response to cGMP", "id": "GO:0070305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070305", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "mesonephros development", "id": "GO:0001823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001823", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "regulation of MAPK cascade", "id": "GO:0043408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" }, { "name": "juxtaglomerular apparatus development", "id": "GO:0072051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072051", "evidence": [ { "database": "UniProtKB", "id": "P06281", "url": "https://www.uniprot.org/uniprotkb/P06281" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P06281-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Asn139", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "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=5MKT&bu=0&command=select+.A:118;+center+selection;+zoom+selection" }, "start_pos": 139, "start_aa": "Asn", "end_pos": 139, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn139", "evidence": [ { "id": "P06281", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06281#ptm_processing" }, { "id": "5MKT", "database": "PDB", "url": "https://www.rcsb.org/structure/5MKT" }, { "id": "5MKT", "database": "PDB", "url": "https://www.rcsb.org/structure/5MKT" }, { "id": "5MKT|A|118", "database": "", "url": "" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->DGS).", "chr_id": "1", "chr_pos": "133283280", "evidence": [ { "id": "rs3390572107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390572107" } ] } ] }, { "uniprot_canonical_ac": "P06281-1", "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": "P06281", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06281#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->SCS).", "chr_id": "1", "chr_pos": "133287082", "evidence": [ { "id": "rs3390648037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390648037" } ] } ] }, { "uniprot_canonical_ac": "P06281-1", "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": "P06281", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P06281#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->DLT).", "chr_id": "1", "chr_pos": "133281977", "evidence": [ { "id": "rs3390643126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390643126" } ] } ] }, { "uniprot_canonical_ac": "P06281-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Ser141", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->NGA).", "chr_id": "1", "chr_pos": "133283286", "evidence": [ { "id": "rs3390648485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390648485" } ] }, { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->NGY).", "chr_id": "1", "chr_pos": "133283287", "evidence": [ { "id": "rs3390668692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390668692" } ] } ] }, { "uniprot_canonical_ac": "P06281-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Ser322", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->NCR).", "chr_id": "1", "chr_pos": "133287089", "evidence": [ { "id": "rs3388499247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388499247" } ] } ] }, { "uniprot_canonical_ac": "P06281-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Thr71", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->NLI).", "chr_id": "1", "chr_pos": "133281984", "evidence": [ { "id": "rs3390575696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390575696" } ] } ] } ], "record_id": "P06281-1" }, { "uniprot_canonical_ac": "P22935-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P22935", "url": "https://www.uniprot.org/uniprotkb/P22935" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 138, "chemical_mass": 15746.0, "gene_names": "Crabp2;Crabp-2;Crabp2;CrabpII", "protein_name": "Cellular retinoic acid-binding protein 2", "disease": [], "molecular_function": [ { "name": "fatty acid binding", "id": "GO:0005504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005504", "evidence": [ { "database": "UniProtKB", "id": "P22935", "url": "https://www.uniprot.org/uniprotkb/P22935" } ], "pmid": "" }, { "name": "retinol binding", "id": "GO:0019841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019841", "evidence": [ { "database": "UniProtKB", "id": "P22935", "url": "https://www.uniprot.org/uniprotkb/P22935" } ], "pmid": "" }, { "name": "retinal binding", "id": "GO:0016918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016918", "evidence": [ { "database": "UniProtKB", "id": "P22935", "url": "https://www.uniprot.org/uniprotkb/P22935" } ], "pmid": "" }, { "name": "retinoic acid binding", "id": "GO:0001972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001972", "evidence": [ { "database": "UniProtKB", "id": "P22935", "url": "https://www.uniprot.org/uniprotkb/P22935" } ], "pmid": "" }, { "name": "cyclin binding", "id": "GO:0030332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030332", "evidence": [ { "database": "UniProtKB", "id": "P22935", "url": "https://www.uniprot.org/uniprotkb/P22935" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P22935", "url": "https://www.uniprot.org/uniprotkb/P22935" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P22935", "url": "https://www.uniprot.org/uniprotkb/P22935" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P22935", "url": "https://www.uniprot.org/uniprotkb/P22935" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P22935", "url": "https://www.uniprot.org/uniprotkb/P22935" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P22935", "url": "https://www.uniprot.org/uniprotkb/P22935" } ], "pmid": "" } ], "biological_process": [ { "name": "retinoic acid metabolic process", "id": "GO:0042573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042573", "evidence": [ { "database": "UniProtKB", "id": "P22935", "url": "https://www.uniprot.org/uniprotkb/P22935" } ], "pmid": "" }, { "name": "fatty acid transport", "id": "GO:0015908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015908", "evidence": [ { "database": "UniProtKB", "id": "P22935", "url": "https://www.uniprot.org/uniprotkb/P22935" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "P22935", "url": "https://www.uniprot.org/uniprotkb/P22935" } ], "pmid": "" }, { "name": "positive regulation of collateral sprouting", "id": "GO:0048672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048672", "evidence": [ { "database": "UniProtKB", "id": "P22935", "url": "https://www.uniprot.org/uniprotkb/P22935" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P22935-1" }, { "uniprot_canonical_ac": "P54728-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 416, "chemical_mass": 43513.0, "gene_names": "Rad23b;0610007D13Rik;HR23B;Mhr23b;Rad23b;mHR23B;p58", "protein_name": "Lysine-specific demethylase RAD23B", "disease": [], "molecular_function": [ { "name": "histone H4K20 demethylase activity", "id": "GO:0035575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035575", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" }, { "name": "polyubiquitin modification-dependent protein binding", "id": "GO:0031593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031593", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "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": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" }, { "name": "ubiquitin binding", "id": "GO:0043130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043130", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" }, { "name": "proteasome binding", "id": "GO:0070628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070628", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "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": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" }, { "name": "DNA damage sensor activity", "id": "GO:0140612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140612", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" }, { "name": "proteasome complex", "id": "GO:0000502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000502", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" }, { "name": "XPC complex", "id": "GO:0071942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071942", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "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": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "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": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" }, { "name": "cellular response to interleukin-7", "id": "GO:0098761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098761", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P54728-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Thr114", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 114, "start_aa": "Thr", "end_pos": 114, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr114", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P54728-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Thr122", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 122, "start_aa": "Thr", "end_pos": 122, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr122", "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": "55370340", "evidence": [ { "id": "rs3542334953", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542334953" } ] } ] }, { "uniprot_canonical_ac": "P54728-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Thr167", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 167, "start_aa": "Thr", "end_pos": 167, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr167", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P54728-1", "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": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "P54728", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P54728" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "P54728-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Thr93", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 93, "start_aa": "Thr", "end_pos": 93, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr93", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P54728-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Thr155", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ] } ] }, { "uniprot_canonical_ac": "P54728-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Ser160", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ] } ] }, { "uniprot_canonical_ac": "P54728-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Ser174", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ] } ] }, { "uniprot_canonical_ac": "P54728-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Thr186", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ] } ] }, { "uniprot_canonical_ac": "P54728-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Ser199", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ] } ] }, { "uniprot_canonical_ac": "P54728-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Tyr202", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P54728", "url": "https://www.uniprot.org/uniprotkb/P54728" } ] } ] } ], "record_id": "P54728-1" }, { "uniprot_canonical_ac": "P58873-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P58873", "url": "https://www.uniprot.org/uniprotkb/P58873" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 404, "chemical_mass": 45266.0, "gene_names": "Rhbdl3;Rhbdl3;Rhbdl4;Rhomr1;Vrho", "protein_name": "Rhomboid-related protein 3", "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 } ], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "P58873", "url": "https://www.uniprot.org/uniprotkb/P58873" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P58873", "url": "https://www.uniprot.org/uniprotkb/P58873" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P58873", "url": "https://www.uniprot.org/uniprotkb/P58873" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P58873", "url": "https://www.uniprot.org/uniprotkb/P58873" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P58873-1" }, { "uniprot_canonical_ac": "P82343-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P82343", "url": "https://www.uniprot.org/uniprotkb/P82343" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 419, "chemical_mass": 48510.0, "gene_names": "Renbp;Age;Renbp;Rnbp", "protein_name": "N-acylglucosamine 2-epimerase", "disease": [], "biological_process": [ { "name": "N-acetylglucosamine metabolic process", "id": "GO:0006044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006044", "evidence": [ { "database": "UniProtKB", "id": "P82343", "url": "https://www.uniprot.org/uniprotkb/P82343" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "P82343", "url": "https://www.uniprot.org/uniprotkb/P82343" } ], "pmid": "" }, { "name": "negative regulation of catalytic activity", "id": "GO:0043086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043086", "evidence": [ { "database": "UniProtKB", "id": "P82343", "url": "https://www.uniprot.org/uniprotkb/P82343" } ], "pmid": "" }, { "name": "negative regulation of endopeptidase activity", "id": "GO:0010951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010951", "evidence": [ { "database": "UniProtKB", "id": "P82343", "url": "https://www.uniprot.org/uniprotkb/P82343" } ], "pmid": "" }, { "name": "N-acetylmannosamine metabolic process", "id": "GO:0006051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006051", "evidence": [ { "database": "UniProtKB", "id": "P82343", "url": "https://www.uniprot.org/uniprotkb/P82343" } ], "pmid": "" }, { "name": "N-acetylneuraminate catabolic process", "id": "GO:0019262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019262", "evidence": [ { "database": "UniProtKB", "id": "P82343", "url": "https://www.uniprot.org/uniprotkb/P82343" } ], "pmid": "" } ], "molecular_function": [ { "name": "N-acylglucosamine 2-epimerase activity", "id": "GO:0050121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050121", "evidence": [ { "database": "UniProtKB", "id": "P82343", "url": "https://www.uniprot.org/uniprotkb/P82343" } ], "pmid": "" }, { "name": "enzyme inhibitor activity", "id": "GO:0004857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004857", "evidence": [ { "database": "UniProtKB", "id": "P82343", "url": "https://www.uniprot.org/uniprotkb/P82343" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P82343", "url": "https://www.uniprot.org/uniprotkb/P82343" } ], "pmid": "" }, { "name": "peptidase inhibitor activity", "id": "GO:0030414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030414", "evidence": [ { "database": "UniProtKB", "id": "P82343", "url": "https://www.uniprot.org/uniprotkb/P82343" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P82343", "url": "https://www.uniprot.org/uniprotkb/P82343" } ], "pmid": "" }, { "name": "purine nucleotide binding", "id": "GO:0017076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017076", "evidence": [ { "database": "UniProtKB", "id": "P82343", "url": "https://www.uniprot.org/uniprotkb/P82343" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P82343-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Ser418", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P82343", "url": "https://www.uniprot.org/uniprotkb/P82343" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P82343", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P82343" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Gly101", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72973417", "evidence": [ { "id": "rs3389576579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389576579" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Val107", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72973400", "evidence": [ { "id": "rs3389576505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389576505" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Gly112", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72973417", "evidence": [ { "id": "rs3389576579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389576579" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Val137", "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": "X", "chr_pos": "72973309", "evidence": [ { "id": "rs3389574826", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389574826" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Val141", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72973298", "evidence": [ { "id": "rs230068560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230068560" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Gln144", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72973289", "evidence": [ { "id": "rs3389579787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389579787" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Ile148", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72972935", "evidence": [ { "id": "rs13464455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13464455" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Gln153", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72972922", "evidence": [ { "id": "rs3389532844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389532844" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Ser187", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72972818", "evidence": [ { "id": "rs3411044176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411044176" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Leu192", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72972804", "evidence": [ { "id": "rs3410567003", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410567003" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Met202", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72972774", "evidence": [ { "id": "rs262190641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262190641" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Gln244", "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": "X", "chr_pos": "72971892", "evidence": [ { "id": "rs3389557808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389557808" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Asp265", "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": "X", "chr_pos": "72971539", "evidence": [ { "id": "rs3389560655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389560655" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Arg269", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72971550_72971551insAGGCCACACACTGGAAGCTGGCTGGTTTCTGCTCCAGTATGCCCTCAGGAAAGGTGACCCCAAACTTCGAATGCACATCATTGACAAGTTTGGGGTCACCTTT", "evidence": [ { "id": "rs3410791322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410791322" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Lys275", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "TFPEGILEQKPASFQCVA*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72971510_72971511insAGGCCACACACTGGAAGCTGGCTGGTTTCTGCTCCAGTATGCCCTCAGGAA", "evidence": [ { "id": "rs3408352691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408352691" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Tyr361", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72966011", "evidence": [ { "id": "rs3411044132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411044132" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Asn363", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72966004", "evidence": [ { "id": "rs3412729484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412729484" } ] }, { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72966005", "evidence": [ { "id": "rs3410826470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410826470" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "390", "end_pos": "390", "site_lbl": "Cys390", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72965837", "evidence": [ { "id": "rs3389520895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389520895" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Glu391", "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": "X", "chr_pos": "72965834", "evidence": [ { "id": "rs3389564136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389564136" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Glu402", "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": "X", "chr_pos": "72965834", "evidence": [ { "id": "rs3389564136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389564136" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "404", "end_pos": "404", "site_lbl": "Ala404", "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": "X", "chr_pos": "72965794", "evidence": [ { "id": "rs240952421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240952421" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Tyr69", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72973665", "evidence": [ { "id": "rs3389520865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389520865" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Ser71", "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": "X", "chr_pos": "72973658", "evidence": [ { "id": "rs3389557063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389557063" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Glu89", "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": "X", "chr_pos": "72973453", "evidence": [ { "id": "rs29037794", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29037794" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Arg93", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72973432", "evidence": [ { "id": "rs3389565038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389565038" } ] } ] }, { "uniprot_canonical_ac": "P82343-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Arg96", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "X", "chr_pos": "72973432", "evidence": [ { "id": "rs3389565038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389565038" } ] } ] } ], "record_id": "P82343-1" }, { "uniprot_canonical_ac": "Q05186-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q05186", "url": "https://www.uniprot.org/uniprotkb/Q05186" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 325, "chemical_mass": 38113.0, "gene_names": "Rcn1;Rca1;Rcn1;Rcn", "protein_name": "Reticulocalbin-1", "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": "Q05186", "url": "https://www.uniprot.org/uniprotkb/Q05186" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q05186", "url": "https://www.uniprot.org/uniprotkb/Q05186" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q05186", "url": "https://www.uniprot.org/uniprotkb/Q05186" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "Q05186", "url": "https://www.uniprot.org/uniprotkb/Q05186" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q05186", "url": "https://www.uniprot.org/uniprotkb/Q05186" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q05186-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Asn47", "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": 47, "start_aa": "Asn", "end_pos": 47, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn47", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2679", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2679" } ] }, { "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": 47, "start_aa": "Asn", "end_pos": 47, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn47", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2679", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2679" } ] }, { "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": 47, "start_aa": "Asn", "end_pos": 47, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn47", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2679", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2679" } ] }, { "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": 47, "start_aa": "Asn", "end_pos": 47, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn47", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2679", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2679" } ] }, { "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": 47, "start_aa": "Asn", "end_pos": 47, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn47", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2679", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2679" } ] }, { "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": 47, "start_aa": "Asn", "end_pos": 47, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn47", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2679", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2679" } ] }, { "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": 47, "start_aa": "Asn", "end_pos": 47, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn47", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2679", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2679" } ] }, { "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": 47, "start_aa": "Asn", "end_pos": 47, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn47", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2679", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2679" } ] }, { "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": 47, "start_aa": "Asn", "end_pos": 47, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn47", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2679", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2679" } ] }, { "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": 47, "start_aa": "Asn", "end_pos": 47, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn47", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2679", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2679" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VVRPDSELGERPPEDNQSFQYDHEAFLGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 47, "start_aa": "Asn", "end_pos": 47, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn47", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 47, "start_aa": "Asn", "end_pos": 47, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn47", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2679", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2679" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 47, "start_aa": "Asn", "end_pos": 47, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn47", "evidence": [ { "id": "Q05186", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q05186#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q05186-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Ser49", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 49, "start_aa": "Ser", "end_pos": 49, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser49", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q05186", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q05186" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q05186", "url": "https://www.uniprot.org/uniprotkb/Q05186" } ] } ] }, { "uniprot_canonical_ac": "Q05186-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Ser74", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q05186", "url": "https://www.uniprot.org/uniprotkb/Q05186" } ] } ] } ], "record_id": "Q05186-1" }, { "uniprot_canonical_ac": "Q08652-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q08652", "url": "https://www.uniprot.org/uniprotkb/Q08652" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 134, "chemical_mass": 15610.0, "gene_names": "Rbp2;Crbp-2;CrbpII;Crbpii;Rbp-2;Rbp2", "protein_name": "Retinol-binding protein 2", "disease": [], "biological_process": [ { "name": "retinoid metabolic process", "id": "GO:0001523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001523", "evidence": [ { "database": "UniProtKB", "id": "Q08652", "url": "https://www.uniprot.org/uniprotkb/Q08652" } ], "pmid": "" }, { "name": "fatty acid transport", "id": "GO:0015908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015908", "evidence": [ { "database": "UniProtKB", "id": "Q08652", "url": "https://www.uniprot.org/uniprotkb/Q08652" } ], "pmid": "" } ], "molecular_function": [ { "name": "fatty acid binding", "id": "GO:0005504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005504", "evidence": [ { "database": "UniProtKB", "id": "Q08652", "url": "https://www.uniprot.org/uniprotkb/Q08652" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q08652", "url": "https://www.uniprot.org/uniprotkb/Q08652" } ], "pmid": "" }, { "name": "retinol binding", "id": "GO:0019841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019841", "evidence": [ { "database": "UniProtKB", "id": "Q08652", "url": "https://www.uniprot.org/uniprotkb/Q08652" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q08652", "url": "https://www.uniprot.org/uniprotkb/Q08652" } ], "pmid": "" }, { "name": "retinal binding", "id": "GO:0016918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016918", "evidence": [ { "database": "UniProtKB", "id": "Q08652", "url": "https://www.uniprot.org/uniprotkb/Q08652" } ], "pmid": "" }, { "name": "retinoid binding", "id": "GO:0005501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005501", "evidence": [ { "database": "UniProtKB", "id": "Q08652", "url": "https://www.uniprot.org/uniprotkb/Q08652" } ], "pmid": "" }, { "name": "enzyme-substrate adaptor activity", "id": "GO:0140767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140767", "evidence": [ { "database": "UniProtKB", "id": "Q08652", "url": "https://www.uniprot.org/uniprotkb/Q08652" } ], "pmid": "" }, { "name": "binding", "id": "GO:0005488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005488", "evidence": [ { "database": "UniProtKB", "id": "Q08652", "url": "https://www.uniprot.org/uniprotkb/Q08652" } ], "pmid": "" }, { "name": "molecular carrier activity", "id": "GO:0140104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140104", "evidence": [ { "database": "UniProtKB", "id": "Q08652", "url": "https://www.uniprot.org/uniprotkb/Q08652" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q08652", "url": "https://www.uniprot.org/uniprotkb/Q08652" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q08652", "url": "https://www.uniprot.org/uniprotkb/Q08652" } ], "pmid": "" }, { "name": "synaptic ribbon", "id": "GO:0098681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098681", "evidence": [ { "database": "UniProtKB", "id": "Q08652", "url": "https://www.uniprot.org/uniprotkb/Q08652" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q08652-1" }, { "uniprot_canonical_ac": "Q3UZ01-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UZ01", "url": "https://www.uniprot.org/uniprotkb/Q3UZ01" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 514, "chemical_mass": 57972.0, "gene_names": "Rnpc3;2810441O16Rik;C030014B17Rik;Kiaa1839;Rbm40;Rnpc3", "protein_name": "RNA-binding region-containing protein 3", "disease": [ { "disease_id": "DOID:0061016", "name": "combined or isolated pituitary growth hormone deficiency 7", "description": "A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21.", "url": "https://disease-ontology.org/term/DOID:0061016", "evidence": [ { "id": "0061016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061016" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "pre-mRNA intronic binding", "id": "GO:0097157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097157", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ01", "url": "https://www.uniprot.org/uniprotkb/Q3UZ01" } ], "pmid": "" }, { "name": "U12 snRNA binding", "id": "GO:0030626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030626", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ01", "url": "https://www.uniprot.org/uniprotkb/Q3UZ01" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ01", "url": "https://www.uniprot.org/uniprotkb/Q3UZ01" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ01", "url": "https://www.uniprot.org/uniprotkb/Q3UZ01" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ01", "url": "https://www.uniprot.org/uniprotkb/Q3UZ01" } ], "pmid": "" }, { "name": "U11/U12 snRNP", "id": "GO:0034693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034693", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ01", "url": "https://www.uniprot.org/uniprotkb/Q3UZ01" } ], "pmid": "" }, { "name": "U12-type spliceosomal complex", "id": "GO:0005689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005689", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ01", "url": "https://www.uniprot.org/uniprotkb/Q3UZ01" } ], "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": "Q3UZ01", "url": "https://www.uniprot.org/uniprotkb/Q3UZ01" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ01", "url": "https://www.uniprot.org/uniprotkb/Q3UZ01" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UZ01-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Ser108", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ01", "url": "https://www.uniprot.org/uniprotkb/Q3UZ01" } ] } ] }, { "uniprot_canonical_ac": "Q3UZ01-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ser21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ01", "url": "https://www.uniprot.org/uniprotkb/Q3UZ01" } ] } ] }, { "uniprot_canonical_ac": "Q3UZ01-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Ser349", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ01", "url": "https://www.uniprot.org/uniprotkb/Q3UZ01" } ] } ] } ], "record_id": "Q3UZ01-1" }, { "uniprot_canonical_ac": "Q62172-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 648, "chemical_mass": 75043.0, "gene_names": "Ralbp1;RLIP76;Ralbp1;Rip1", "protein_name": "RalA-binding protein 1", "disease": [ { "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: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: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 } ], "molecular_function": [ { "name": "xenobiotic transmembrane transporter activity", "id": "GO:0042910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042910", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "ABC-type xenobiotic transporter activity", "id": "GO:0008559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008559", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "ABC-type glutathione S-conjugate transporter activity", "id": "GO:0015431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015431", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" } ], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "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": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "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": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial fission", "id": "GO:0090141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090141", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "xenobiotic detoxification by transmembrane export across the plasma membrane", "id": "GO:1990961", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990961", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" }, { "name": "doxorubicin transport", "id": "GO:1900753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900753", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q62172-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Ser29", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" }, { "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": "Q62172", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62172" } ] } ] }, { "uniprot_canonical_ac": "Q62172-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Ser30", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62172", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62172" } ] } ] }, { "uniprot_canonical_ac": "Q62172-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ser34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ] } ] }, { "uniprot_canonical_ac": "Q62172-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Thr44", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ] } ] }, { "uniprot_canonical_ac": "Q62172-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Ser461", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ] } ] }, { "uniprot_canonical_ac": "Q62172-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Ser463", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ] } ] }, { "uniprot_canonical_ac": "Q62172-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62172", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62172" } ] } ] }, { "uniprot_canonical_ac": "Q62172-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Ser62", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ] } ] }, { "uniprot_canonical_ac": "Q62172-1", "start_pos": "638", "end_pos": "638", "site_lbl": "Ser638", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" } ] } ] }, { "uniprot_canonical_ac": "Q62172-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Ser92", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" }, { "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": "Q62172", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62172" } ] } ] }, { "uniprot_canonical_ac": "Q62172-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Ser93", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62172", "url": "https://www.uniprot.org/uniprotkb/Q62172" }, { "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": "Q62172", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62172" } ] } ] } ], "record_id": "Q62172-1" }, { "uniprot_canonical_ac": "Q6P3B9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6P3B9", "url": "https://www.uniprot.org/uniprotkb/Q6P3B9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 350, "chemical_mass": 39317.0, "gene_names": "Rbfa;1110032A13Rik;Rbfa", "protein_name": "Putative ribosome-binding factor A, mitochondrial", "disease": [], "cellular_component": [ { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q6P3B9", "url": "https://www.uniprot.org/uniprotkb/Q6P3B9" } ], "pmid": "" } ], "molecular_function": [ { "name": "ribosomal small subunit binding", "id": "GO:0043024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043024", "evidence": [ { "database": "UniProtKB", "id": "Q6P3B9", "url": "https://www.uniprot.org/uniprotkb/Q6P3B9" } ], "pmid": "" }, { "name": "rRNA binding", "id": "GO:0019843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019843", "evidence": [ { "database": "UniProtKB", "id": "Q6P3B9", "url": "https://www.uniprot.org/uniprotkb/Q6P3B9" } ], "pmid": "" } ], "biological_process": [ { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "Q6P3B9", "url": "https://www.uniprot.org/uniprotkb/Q6P3B9" } ], "pmid": "" }, { "name": "mitochondrial small ribosomal subunit assembly", "id": "GO:0180026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0180026", "evidence": [ { "database": "UniProtKB", "id": "Q6P3B9", "url": "https://www.uniprot.org/uniprotkb/Q6P3B9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6P3B9-1" }, { "uniprot_canonical_ac": "Q6Y5D8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6Y5D8", "url": "https://www.uniprot.org/uniprotkb/Q6Y5D8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 786, "chemical_mass": 89366.0, "gene_names": "Arhgap10;A930033B01Rik;Arhgap10;PS-GAP;PSGAP-m;PSGAP-s;PSGAP", "protein_name": "Rho GTPase-activating protein 10", "disease": [ { "disease_id": "DOID:0080311", "name": "Billuart-type X-linked syndromic intellectual developmental disorder", "description": "A syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that has_material_basis_in mutation in the oligophrenin-1 gene on chromosome Xq12.", "url": "https://disease-ontology.org/term/DOID:0080311", "evidence": [ { "id": "0080311", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080311" } ], "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": "Q6Y5D8", "url": "https://www.uniprot.org/uniprotkb/Q6Y5D8" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6Y5D8", "url": "https://www.uniprot.org/uniprotkb/Q6Y5D8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6Y5D8", "url": "https://www.uniprot.org/uniprotkb/Q6Y5D8" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q6Y5D8", "url": "https://www.uniprot.org/uniprotkb/Q6Y5D8" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q6Y5D8", "url": "https://www.uniprot.org/uniprotkb/Q6Y5D8" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q6Y5D8", "url": "https://www.uniprot.org/uniprotkb/Q6Y5D8" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q6Y5D8", "url": "https://www.uniprot.org/uniprotkb/Q6Y5D8" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q6Y5D8", "url": "https://www.uniprot.org/uniprotkb/Q6Y5D8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6Y5D8-1", "start_pos": "647", "end_pos": "647", "site_lbl": "Thr647", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 647, "start_aa": "Thr", "end_pos": 647, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr647", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6Y5D8-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Arg418", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Inactive. Abolishes GTPase activity in vitro. Greatly diminishes cytoskeletal reorganization.", "evidence": [ { "database": "UniProtKB", "id": "Q6Y5D8", "url": "https://www.uniprot.org/uniprotkb/Q6Y5D8" }, { "database": "PubMed", "id": "11238453", "url": "https://glygen.org/publication/PubMed/11238453" } ] } ] } ], "record_id": "Q6Y5D8-1" }, { "uniprot_canonical_ac": "Q7TNK1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 735, "chemical_mass": 83371.0, "gene_names": "Rfx4;4933412G19Rik;NYD-sp10;Rfx4", "protein_name": "Transcription factor RFX4", "disease": [], "biological_process": [ { "name": "cerebellar cortex morphogenesis", "id": "GO:0021696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021696", "evidence": [ { "database": "UniProtKB", "id": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "pmid": "" }, { "name": "dorsal spinal cord development", "id": "GO:0021516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021516", "evidence": [ { "database": "UniProtKB", "id": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "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": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "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": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "pmid": "" }, { "name": "telencephalon development", "id": "GO:0021537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021537", "evidence": [ { "database": "UniProtKB", "id": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "pmid": "" }, { "name": "negative regulation of smoothened signaling pathway", "id": "GO:0045879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "pmid": "" }, { "name": "regulation of protein processing", "id": "GO:0070613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070613", "evidence": [ { "database": "UniProtKB", "id": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "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": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "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": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "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": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "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": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7TNK1", "url": "https://www.uniprot.org/uniprotkb/Q7TNK1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TNK1-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Thr506", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 506, "start_aa": "Thr", "end_pos": 506, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr506", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q7TNK1-1", "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": "Q7TNK1-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Asp341", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DIT->NIT).", "chr_id": "10", "chr_pos": "84699134", "evidence": [ { "id": "rs3389097012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389097012" } ] } ] } ], "record_id": "Q7TNK1-1" }, { "uniprot_canonical_ac": "Q7TQA3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TQA3", "url": "https://www.uniprot.org/uniprotkb/Q7TQA3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 309, "chemical_mass": 34193.0, "gene_names": "Sdr16c5;Rdhe2;Scdr9;Sdr16c5", "protein_name": "Epidermal retinol dehydrogenase 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": "Q7TQA3", "url": "https://www.uniprot.org/uniprotkb/Q7TQA3" } ], "pmid": "" }, { "name": "retinol metabolic process", "id": "GO:0042572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042572", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA3", "url": "https://www.uniprot.org/uniprotkb/Q7TQA3" } ], "pmid": "" }, { "name": "retinal metabolic process", "id": "GO:0042574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042574", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA3", "url": "https://www.uniprot.org/uniprotkb/Q7TQA3" } ], "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": "Q7TQA3", "url": "https://www.uniprot.org/uniprotkb/Q7TQA3" } ], "pmid": "" }, { "name": "keratinocyte proliferation", "id": "GO:0043616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043616", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA3", "url": "https://www.uniprot.org/uniprotkb/Q7TQA3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA3", "url": "https://www.uniprot.org/uniprotkb/Q7TQA3" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA3", "url": "https://www.uniprot.org/uniprotkb/Q7TQA3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA3", "url": "https://www.uniprot.org/uniprotkb/Q7TQA3" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA3", "url": "https://www.uniprot.org/uniprotkb/Q7TQA3" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA3", "url": "https://www.uniprot.org/uniprotkb/Q7TQA3" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA3", "url": "https://www.uniprot.org/uniprotkb/Q7TQA3" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA3", "url": "https://www.uniprot.org/uniprotkb/Q7TQA3" } ], "pmid": "" }, { "name": "all-trans-retinol dehydrogenase (NAD+) activity", "id": "GO:0004745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004745", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA3", "url": "https://www.uniprot.org/uniprotkb/Q7TQA3" } ], "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": "Q7TQA3", "url": "https://www.uniprot.org/uniprotkb/Q7TQA3" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA3", "url": "https://www.uniprot.org/uniprotkb/Q7TQA3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7TQA3-1" }, { "uniprot_canonical_ac": "Q80XA6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80XA6", "url": "https://www.uniprot.org/uniprotkb/Q80XA6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 647, "chemical_mass": 70484.0, "gene_names": "Reps2;POB1;Pob1;Reps2", "protein_name": "RalBP1-associated Eps domain-containing protein 2", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80XA6", "url": "https://www.uniprot.org/uniprotkb/Q80XA6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q80XA6", "url": "https://www.uniprot.org/uniprotkb/Q80XA6" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q80XA6", "url": "https://www.uniprot.org/uniprotkb/Q80XA6" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "Q80XA6", "url": "https://www.uniprot.org/uniprotkb/Q80XA6" } ], "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": "Q80XA6", "url": "https://www.uniprot.org/uniprotkb/Q80XA6" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q80XA6", "url": "https://www.uniprot.org/uniprotkb/Q80XA6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80XA6-1", "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": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q80XA6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q80XA6" } ] } ] }, { "uniprot_canonical_ac": "Q80XA6-1", "start_pos": "420", "end_pos": "420", "site_lbl": "Asn420", "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": "STVNESLPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 420, "start_aa": "Asn", "end_pos": 420, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn420", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q80XA6-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Thr466", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 466, "start_aa": "Thr", "end_pos": 466, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr466", "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": "Q80XA6", "url": "https://www.uniprot.org/uniprotkb/Q80XA6" } ] } ] }, { "uniprot_canonical_ac": "Q80XA6-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Thr512", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 512, "start_aa": "Thr", "end_pos": 512, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr512", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80XA6-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Ser239", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XA6", "url": "https://www.uniprot.org/uniprotkb/Q80XA6" } ] } ] }, { "uniprot_canonical_ac": "Q80XA6-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Ser480", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XA6", "url": "https://www.uniprot.org/uniprotkb/Q80XA6" } ] } ] } ], "record_id": "Q80XA6-1" }, { "uniprot_canonical_ac": "Q8BHC7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 315, "chemical_mass": 35776.0, "gene_names": "Rhbdd1;4930418P06Rik;MSD-50;MSD50;RRP4;Rhbdd1;Rhbdl4;mRHBDD1", "protein_name": "Rhomboid-related protein 4", "disease": [], "biological_process": [ { "name": "membrane protein proteolysis involved in retrograde protein transport, ER to cytosol", "id": "GO:1904211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904211", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" }, { "name": "post-translational protein modification", "id": "GO:0043687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043687", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" }, { "name": "positive regulation of protein processing", "id": "GO:0010954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010954", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" }, { "name": "positive regulation of secretion", "id": "GO:0051047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051047", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "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": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" }, { "name": "membrane protein intracellular domain proteolysis", "id": "GO:0031293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031293", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" }, { "name": "ERAD pathway", "id": "GO:0036503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036503", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" }, { "name": "spermatid differentiation", "id": "GO:0048515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048515", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" }, { "name": "membrane protein proteolysis", "id": "GO:0033619", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033619", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" }, { "name": "cellular response to unfolded protein", "id": "GO:0034620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034620", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" } ], "molecular_function": [ { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" }, { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" }, { "name": "endoplasmic reticulum quality control compartment", "id": "GO:0044322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044322", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BHC7-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Ser144", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Enzyme inactivation. Reduces the cleavage of PTCRA and TRAC. Does not inhibit interaction with PTCRA. Stimulates interaction with ubiquitinated proteins.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" }, { "database": "PubMed", "id": "22795130", "url": "https://glygen.org/publication/PubMed/22795130" } ] } ] }, { "uniprot_canonical_ac": "Q8BHC7-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Leu274", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Inhibits interaction with ubiquitin and ubiquitinated proteins; when associated with A-278. Reduces the cleavage of PTCRA; when associated with A-278.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" }, { "database": "PubMed", "id": "22795130", "url": "https://glygen.org/publication/PubMed/22795130" } ] } ] }, { "uniprot_canonical_ac": "Q8BHC7-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Leu278", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Inhibits interaction with ubiquitin and ubiquitinated proteins; when associated with A-274. Reduces the cleavage of PTCRA; when associated with A-274.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHC7", "url": "https://www.uniprot.org/uniprotkb/Q8BHC7" }, { "database": "PubMed", "id": "22795130", "url": "https://glygen.org/publication/PubMed/22795130" } ] } ] } ], "record_id": "Q8BHC7-1" }, { "uniprot_canonical_ac": "Q8BHS3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 420, "chemical_mass": 46896.0, "gene_names": "Rbm22;8430430L24Rik;Rbm22", "protein_name": "Pre-mRNA-splicing factor RBM22", "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": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "pmid": "" }, { "name": "positive regulation of RNA splicing", "id": "GO:0033120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033120", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "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": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "pmid": "" }, { "name": "mRNA cis splicing, via spliceosome", "id": "GO:0045292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045292", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "pmid": "" } ], "molecular_function": [ { "name": "pre-mRNA binding", "id": "GO:0036002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036002", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "pmid": "" }, { "name": "U6 snRNA binding", "id": "GO:0017070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017070", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "pmid": "" }, { "name": "post-mRNA release spliceosomal complex", "id": "GO:0071014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071014", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "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": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "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": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "pmid": "" }, { "name": "Prp19 complex", "id": "GO:0000974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000974", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "pmid": "" }, { "name": "post-spliceosomal complex", "id": "GO:0071020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071020", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BHS3-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Ser102", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ] } ] }, { "uniprot_canonical_ac": "Q8BHS3-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Ser4", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHS3", "url": "https://www.uniprot.org/uniprotkb/Q8BHS3" } ] } ] } ], "record_id": "Q8BHS3-1" }, { "uniprot_canonical_ac": "Q8BL43-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BL43", "url": "https://www.uniprot.org/uniprotkb/Q8BL43" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 508, "chemical_mass": 57333.0, "gene_names": "Rassf10;4632411J06Rik;Rassf10", "protein_name": "Ras association domain-containing protein 10", "disease": [], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q8BL43", "url": "https://www.uniprot.org/uniprotkb/Q8BL43" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8BL43", "url": "https://www.uniprot.org/uniprotkb/Q8BL43" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BL43", "url": "https://www.uniprot.org/uniprotkb/Q8BL43" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8BL43", "url": "https://www.uniprot.org/uniprotkb/Q8BL43" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q8BL43", "url": "https://www.uniprot.org/uniprotkb/Q8BL43" } ], "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": "Q8BL43", "url": "https://www.uniprot.org/uniprotkb/Q8BL43" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "Q8BL43", "url": "https://www.uniprot.org/uniprotkb/Q8BL43" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BL43-1" }, { "uniprot_canonical_ac": "Q8BQC8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BQC8", "url": "https://www.uniprot.org/uniprotkb/Q8BQC8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 711, "chemical_mass": 81675.0, "gene_names": "Rbak;Rbak;Znf769", "protein_name": "RB-associated KRAB zinc finger protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BQC8", "url": "https://www.uniprot.org/uniprotkb/Q8BQC8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BQC8", "url": "https://www.uniprot.org/uniprotkb/Q8BQC8" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8BQC8", "url": "https://www.uniprot.org/uniprotkb/Q8BQC8" } ], "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": "Q8BQC8", "url": "https://www.uniprot.org/uniprotkb/Q8BQC8" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8BQC8", "url": "https://www.uniprot.org/uniprotkb/Q8BQC8" } ], "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": "Q8BQC8", "url": "https://www.uniprot.org/uniprotkb/Q8BQC8" } ], "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": "Q8BQC8", "url": "https://www.uniprot.org/uniprotkb/Q8BQC8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BQC8-1" }, { "uniprot_canonical_ac": "Q8BUX5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 455, "chemical_mass": 49543.0, "gene_names": "Rhbg;Rhbg", "protein_name": "Ammonium transporter Rh type B", "disease": [ { "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 } ], "biological_process": [ { "name": "ammonium homeostasis", "id": "GO:0097272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097272", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" } ], "pmid": "" }, { "name": "transepithelial ammonium transport", "id": "GO:0070634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070634", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" } ], "pmid": "" }, { "name": "ammonium transmembrane transport", "id": "GO:0072488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072488", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" } ], "pmid": "" }, { "name": "spectrin-associated cytoskeleton", "id": "GO:0014731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014731", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" } ], "pmid": "" } ], "molecular_function": [ { "name": "ammonium channel activity", "id": "GO:0008519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008519", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" } ], "pmid": "" }, { "name": "carbon dioxide transmembrane transporter activity", "id": "GO:0035379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035379", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" } ], "pmid": "" }, { "name": "ankyrin binding", "id": "GO:0030506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030506", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BUX5-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Asn46", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 46, "start_aa": "Asn", "end_pos": 46, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn46", "evidence": [ { "id": "Q8BUX5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BUX5-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Phe128", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Normal plasma membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" }, { "database": "PubMed", "id": "27681563", "url": "https://glygen.org/publication/PubMed/27681563" } ] } ] }, { "uniprot_canonical_ac": "Q8BUX5-1", "start_pos": "183", "end_pos": "183", "site_lbl": "His183", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Impairs targeting to plasma membrane resulting in loss of transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" }, { "database": "PubMed", "id": "27681563", "url": "https://glygen.org/publication/PubMed/27681563" } ] }, { "sequence_org": "H", "sequence_mut": "D", "comment": "Impairs targeting to plasma membrane resulting in loss of transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" }, { "database": "PubMed", "id": "27681563", "url": "https://glygen.org/publication/PubMed/27681563" } ] }, { "sequence_org": "H", "sequence_mut": "L", "comment": "Impairs targeting to plasma membrane resulting in loss of transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" }, { "database": "PubMed", "id": "27681563", "url": "https://glygen.org/publication/PubMed/27681563" } ] } ] }, { "uniprot_canonical_ac": "Q8BUX5-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Trp230", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Normal plasma membrane localization. Loss of transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" }, { "database": "PubMed", "id": "27681563", "url": "https://glygen.org/publication/PubMed/27681563" } ] }, { "sequence_org": "W", "sequence_mut": "F", "comment": "Normal plasma membrane localization. Loss of transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" }, { "database": "PubMed", "id": "27681563", "url": "https://glygen.org/publication/PubMed/27681563" } ] }, { "sequence_org": "W", "sequence_mut": "L", "comment": "Normal plasma membrane localization. Loss of transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" }, { "database": "PubMed", "id": "27681563", "url": "https://glygen.org/publication/PubMed/27681563" } ] } ] }, { "uniprot_canonical_ac": "Q8BUX5-1", "start_pos": "342", "end_pos": "342", "site_lbl": "His342", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Decreases expression and/or localization at the plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "Q8BUX5", "url": "https://www.uniprot.org/uniprotkb/Q8BUX5" }, { "database": "PubMed", "id": "27681563", "url": "https://glygen.org/publication/PubMed/27681563" } ] } ] } ], "record_id": "Q8BUX5-1" }, { "uniprot_canonical_ac": "Q8C7Q4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 361, "chemical_mass": 40046.0, "gene_names": "Rbm4;4921506I22Rik;Lark1;Mlark;Rbm4a;Rbm4;lark", "protein_name": "RNA-binding protein 4", "disease": [], "molecular_function": [ { "name": "pre-mRNA binding", "id": "GO:0036002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036002", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "pre-mRNA intronic binding", "id": "GO:0097157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097157", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "pre-mRNA intronic pyrimidine-rich binding", "id": "GO:0097158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097158", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "miRNA binding", "id": "GO:0035198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035198", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "cyclin binding", "id": "GO:0030332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030332", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" } ], "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": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "cap-independent translational initiation", "id": "GO:0002190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002190", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "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": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "regulation of nucleocytoplasmic transport", "id": "GO:0046822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046822", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "pancreas development", "id": "GO:0031016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031016", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "positive regulation of muscle cell differentiation", "id": "GO:0051149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051149", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "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": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "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": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "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": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "regulation of insulin receptor signaling pathway", "id": "GO:0046626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046626", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "enteroendocrine cell differentiation", "id": "GO:0035883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035883", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "circadian regulation of translation", "id": "GO:0097167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097167", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0035773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035773", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C7Q4-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Ser306", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ] } ] }, { "uniprot_canonical_ac": "Q8C7Q4-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Ser86", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C7Q4", "url": "https://www.uniprot.org/uniprotkb/Q8C7Q4" } ] } ] } ], "record_id": "Q8C7Q4-1" }, { "uniprot_canonical_ac": "Q8CHD8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1047, "chemical_mass": 118535.0, "gene_names": "Rab11fip3;Cart1;D030060O14Rik;FIP3;Kiaa0665;Rab11-FIP3;Rab11fip3;mKIAA0665", "protein_name": "Rab11 family-interacting protein 3", "disease": [], "biological_process": [ { "name": "negative regulation of adiponectin secretion", "id": "GO:0070164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070164", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "positive regulation of mitotic cytokinetic process", "id": "GO:1903438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903438", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "regulation of vesicle-mediated transport", "id": "GO:0060627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060627", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "microtubule-based movement", "id": "GO:0007018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007018", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "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": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "protein localization to cilium", "id": "GO:0061512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061512", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "regulation of cilium assembly", "id": "GO:1902017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902017", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "regulation of cytokinesis", "id": "GO:0032465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032465", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "positive regulation of cilium assembly", "id": "GO:0045724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045724", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "regulation of endocytic recycling", "id": "GO:2001135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001135", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "regulation of protein localization to centrosome", "id": "GO:1904779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904779", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "early endosome to recycling endosome transport", "id": "GO:0061502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061502", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "regulation of early endosome to recycling endosome transport", "id": "GO:1902954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902954", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "protein localization to cleavage furrow", "id": "GO:1905345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905345", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "dynein light intermediate chain binding", "id": "GO:0051959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051959", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "endocytic vesicle membrane", "id": "GO:0030666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030666", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "cleavage furrow", "id": "GO:0032154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032154", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" }, { "name": "postsynaptic recycling endosome membrane", "id": "GO:0098944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098944", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CHD8-1", "start_pos": "641", "end_pos": "641", "site_lbl": "Ser641", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ] } ] }, { "uniprot_canonical_ac": "Q8CHD8-1", "start_pos": "765", "end_pos": "765", "site_lbl": "Ser765", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CHD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CHD8" } ] } ] }, { "uniprot_canonical_ac": "Q8CHD8-1", "start_pos": "829", "end_pos": "829", "site_lbl": "Ser829", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ] } ] }, { "uniprot_canonical_ac": "Q8CHD8-1", "start_pos": "938", "end_pos": "938", "site_lbl": "Ser938", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ] } ] }, { "uniprot_canonical_ac": "Q8CHD8-1", "start_pos": "939", "end_pos": "939", "site_lbl": "Ser939", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CHD8", "url": "https://www.uniprot.org/uniprotkb/Q8CHD8" } ] } ] } ], "record_id": "Q8CHD8-1" }, { "uniprot_canonical_ac": "Q8CHP5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CHP5", "url": "https://www.uniprot.org/uniprotkb/Q8CHP5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 203, "chemical_mass": 22690.0, "gene_names": "Pym1;A030010B05Rik;Pym1;Pym;Wibg", "protein_name": "Partner of Y14 and mago", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8CHP5", "url": "https://www.uniprot.org/uniprotkb/Q8CHP5" } ], "pmid": "" }, { "name": "ribosome binding", "id": "GO:0043022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043022", "evidence": [ { "database": "UniProtKB", "id": "Q8CHP5", "url": "https://www.uniprot.org/uniprotkb/Q8CHP5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8CHP5", "url": "https://www.uniprot.org/uniprotkb/Q8CHP5" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8CHP5", "url": "https://www.uniprot.org/uniprotkb/Q8CHP5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CHP5", "url": "https://www.uniprot.org/uniprotkb/Q8CHP5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CHP5", "url": "https://www.uniprot.org/uniprotkb/Q8CHP5" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q8CHP5", "url": "https://www.uniprot.org/uniprotkb/Q8CHP5" } ], "pmid": "" }, { "name": "exon-exon junction complex", "id": "GO:0035145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035145", "evidence": [ { "database": "UniProtKB", "id": "Q8CHP5", "url": "https://www.uniprot.org/uniprotkb/Q8CHP5" } ], "pmid": "" } ], "biological_process": [ { "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": "Q8CHP5", "url": "https://www.uniprot.org/uniprotkb/Q8CHP5" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q8CHP5", "url": "https://www.uniprot.org/uniprotkb/Q8CHP5" } ], "pmid": "" }, { "name": "exon-exon junction complex disassembly", "id": "GO:1903259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903259", "evidence": [ { "database": "UniProtKB", "id": "Q8CHP5", "url": "https://www.uniprot.org/uniprotkb/Q8CHP5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CHP5-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Ser116", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CHP5", "url": "https://www.uniprot.org/uniprotkb/Q8CHP5" } ] } ] }, { "uniprot_canonical_ac": "Q8CHP5-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Ser64", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CHP5", "url": "https://www.uniprot.org/uniprotkb/Q8CHP5" } ] } ] }, { "uniprot_canonical_ac": "Q8CHP5-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Thr72", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CHP5", "url": "https://www.uniprot.org/uniprotkb/Q8CHP5" } ] } ] } ], "record_id": "Q8CHP5-1" }, { "uniprot_canonical_ac": "Q8K126-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K126", "url": "https://www.uniprot.org/uniprotkb/Q8K126" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 446, "chemical_mass": 52458.0, "gene_names": "Mtrf1;A830062K05Rik;MtRF-1;Mtrf1", "protein_name": "Peptide chain release factor 1, mitochondrial", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8K126", "url": "https://www.uniprot.org/uniprotkb/Q8K126" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translational termination", "id": "GO:0070126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070126", "evidence": [ { "database": "UniProtKB", "id": "Q8K126", "url": "https://www.uniprot.org/uniprotkb/Q8K126" } ], "pmid": "" } ], "molecular_function": [ { "name": "translation release factor activity, codon specific", "id": "GO:0016149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016149", "evidence": [ { "database": "UniProtKB", "id": "Q8K126", "url": "https://www.uniprot.org/uniprotkb/Q8K126" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8K126-1" }, { "uniprot_canonical_ac": "Q8K2P6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K2P6", "url": "https://www.uniprot.org/uniprotkb/Q8K2P6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 157, "chemical_mass": 17966.0, "gene_names": "Rfesd;D030068K09;Rfesd", "protein_name": "Rieske domain-containing protein", "disease": [], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8K2P6", "url": "https://www.uniprot.org/uniprotkb/Q8K2P6" } ], "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": "Q8K2P6", "url": "https://www.uniprot.org/uniprotkb/Q8K2P6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K2P6-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2P6", "url": "https://www.uniprot.org/uniprotkb/Q8K2P6" } ] } ] } ], "record_id": "Q8K2P6-1" }, { "uniprot_canonical_ac": "Q8R3C6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R3C6", "url": "https://www.uniprot.org/uniprotkb/Q8R3C6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 952, "chemical_mass": 106083.0, "gene_names": "Rbm19;1200009A02Rik;NPO;Rbm19", "protein_name": "Probable RNA-binding protein 19", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q8R3C6", "url": "https://www.uniprot.org/uniprotkb/Q8R3C6" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8R3C6", "url": "https://www.uniprot.org/uniprotkb/Q8R3C6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8R3C6", "url": "https://www.uniprot.org/uniprotkb/Q8R3C6" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8R3C6", "url": "https://www.uniprot.org/uniprotkb/Q8R3C6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R3C6", "url": "https://www.uniprot.org/uniprotkb/Q8R3C6" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q8R3C6", "url": "https://www.uniprot.org/uniprotkb/Q8R3C6" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q8R3C6", "url": "https://www.uniprot.org/uniprotkb/Q8R3C6" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8R3C6", "url": "https://www.uniprot.org/uniprotkb/Q8R3C6" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of embryonic development", "id": "GO:0040019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040019", "evidence": [ { "database": "UniProtKB", "id": "Q8R3C6", "url": "https://www.uniprot.org/uniprotkb/Q8R3C6" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "Q8R3C6", "url": "https://www.uniprot.org/uniprotkb/Q8R3C6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R3C6-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Ser177", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R3C6", "url": "https://www.uniprot.org/uniprotkb/Q8R3C6" } ] } ] }, { "uniprot_canonical_ac": "Q8R3C6-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Ser179", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R3C6", "url": "https://www.uniprot.org/uniprotkb/Q8R3C6" } ] } ] }, { "uniprot_canonical_ac": "Q8R3C6-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Ser183", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R3C6", "url": "https://www.uniprot.org/uniprotkb/Q8R3C6" } ] } ] }, { "uniprot_canonical_ac": "Q8R3C6-1", "start_pos": "693", "end_pos": "693", "site_lbl": "Ser693", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R3C6", "url": "https://www.uniprot.org/uniprotkb/Q8R3C6" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q8R3C6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R3C6" } ] } ] }, { "uniprot_canonical_ac": "Q8R3C6-1", "start_pos": "928", "end_pos": "928", "site_lbl": "Ser928", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R3C6", "url": "https://www.uniprot.org/uniprotkb/Q8R3C6" } ] } ] }, { "uniprot_canonical_ac": "Q8R3C6-1", "start_pos": "944", "end_pos": "944", "site_lbl": "Ser944", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R3C6", "url": "https://www.uniprot.org/uniprotkb/Q8R3C6" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q8R3C6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R3C6" } ] } ] } ], "record_id": "Q8R3C6-1" }, { "uniprot_canonical_ac": "Q8VC82-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VC82", "url": "https://www.uniprot.org/uniprotkb/Q8VC82" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 373, "chemical_mass": 41786.0, "gene_names": "Rhbdl1;Rhbdl1;Rhbdl", "protein_name": "Rhomboid-related 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 } ], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "Q8VC82", "url": "https://www.uniprot.org/uniprotkb/Q8VC82" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q8VC82", "url": "https://www.uniprot.org/uniprotkb/Q8VC82" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VC82", "url": "https://www.uniprot.org/uniprotkb/Q8VC82" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VC82-1" }, { "uniprot_canonical_ac": "Q8VCH7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 341, "chemical_mass": 38075.0, "gene_names": "Rdh10;3110069K09Rik;4921506A21Rik;D1Ertd762e;Rdh10;m366Asp", "protein_name": "Retinol dehydrogenase 10", "disease": [], "biological_process": [ { "name": "primary lung bud formation", "id": "GO:0060431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060431", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "nose development", "id": "GO:0043584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043584", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "retinol metabolic process", "id": "GO:0042572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042572", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "retinoic acid biosynthetic process", "id": "GO:0002138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002138", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "neural crest cell development", "id": "GO:0014032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014032", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "embryonic camera-type eye development", "id": "GO:0031076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031076", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "retinal metabolic process", "id": "GO:0042574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042574", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "ear development", "id": "GO:0043583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043583", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "embryonic viscerocranium morphogenesis", "id": "GO:0048703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048703", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "bud elongation involved in lung branching", "id": "GO:0060449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060449", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "gonad development", "id": "GO:0008406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008406", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "positive regulation of retinoic acid biosynthetic process", "id": "GO:1900054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900054", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" } ], "molecular_function": [ { "name": "all-trans-retinol dehydrogenase (NAD+) activity", "id": "GO:0004745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004745", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "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": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" }, { "name": "all-trans-retinol dehydrogenase (NADP+) activity", "id": "GO:0052650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052650", "evidence": [ { "database": "UniProtKB", "id": "Q8VCH7", "url": "https://www.uniprot.org/uniprotkb/Q8VCH7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VCH7-1" }, { "uniprot_canonical_ac": "Q91W59-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91W59", "url": "https://www.uniprot.org/uniprotkb/Q91W59" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 403, "chemical_mass": 43991.0, "gene_names": "Rbms1;2600014B10Rik;MSSP-1;MSSP-2;MSSP-3;Mssp1;Mssp;Rbms1;YC1", "protein_name": "RNA-binding motif, single-stranded-interacting 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": "Q91W59", "url": "https://www.uniprot.org/uniprotkb/Q91W59" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "Q91W59", "url": "https://www.uniprot.org/uniprotkb/Q91W59" } ], "pmid": "" }, { "name": "poly(A) binding", "id": "GO:0008143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008143", "evidence": [ { "database": "UniProtKB", "id": "Q91W59", "url": "https://www.uniprot.org/uniprotkb/Q91W59" } ], "pmid": "" }, { "name": "poly(U) RNA binding", "id": "GO:0008266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008266", "evidence": [ { "database": "UniProtKB", "id": "Q91W59", "url": "https://www.uniprot.org/uniprotkb/Q91W59" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q91W59", "url": "https://www.uniprot.org/uniprotkb/Q91W59" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q91W59", "url": "https://www.uniprot.org/uniprotkb/Q91W59" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91W59", "url": "https://www.uniprot.org/uniprotkb/Q91W59" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q91W59", "url": "https://www.uniprot.org/uniprotkb/Q91W59" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q91W59", "url": "https://www.uniprot.org/uniprotkb/Q91W59" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91W59-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Thr208", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91W59", "url": "https://www.uniprot.org/uniprotkb/Q91W59" } ] } ] } ], "record_id": "Q91W59-1" }, { "uniprot_canonical_ac": "Q99J64-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99J64", "url": "https://www.uniprot.org/uniprotkb/Q99J64" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 343, "chemical_mass": 38637.0, "gene_names": "Rbm43;0610033I05Rik;Rbm43", "protein_name": "RNA-binding protein 43", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q99J64", "url": "https://www.uniprot.org/uniprotkb/Q99J64" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q99J64-1" }, { "uniprot_canonical_ac": "Q99KG3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 930, "chemical_mass": 103494.0, "gene_names": "Rbm10;E430039K10Rik;Kiaa0122;MINAS-60;Rbm10", "protein_name": "RNA-binding protein 10", "disease": [ { "disease_id": "DOID:0111780", "name": "TARP syndrome", "description": "A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3.", "url": "https://disease-ontology.org/term/DOID:0111780", "evidence": [ { "id": "0111780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111780" } ], "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: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: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: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 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": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "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": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "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": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "pmid": "" }, { "name": "mRNA stabilization", "id": "GO:0048255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048255", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "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": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA stabilization", "id": "GO:0070935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070935", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "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": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "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": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "pmid": "" }, { "name": "regulation of smooth muscle cell apoptotic process", "id": "GO:0034391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034391", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "pmid": "" }, { "name": "negative regulation of ribosomal large subunit export from nucleus", "id": "GO:2000204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000204", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "pmid": "" }, { "name": "single-stranded RNA binding", "id": "GO:0003727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003727", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "pmid": "" }, { "name": "miRNA binding", "id": "GO:0035198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035198", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99KG3-1", "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": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "Q99KG3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99KG3" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q99KG3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q99KG3" } ] } ] }, { "uniprot_canonical_ac": "Q99KG3-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Ser61", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ] } ] }, { "uniprot_canonical_ac": "Q99KG3-1", "start_pos": "718", "end_pos": "718", "site_lbl": "Ser718", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ] } ] }, { "uniprot_canonical_ac": "Q99KG3-1", "start_pos": "723", "end_pos": "723", "site_lbl": "Ser723", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ] } ] }, { "uniprot_canonical_ac": "Q99KG3-1", "start_pos": "733", "end_pos": "733", "site_lbl": "Ser733", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" }, { "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": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q99KG3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99KG3" } ] } ] }, { "uniprot_canonical_ac": "Q99KG3-1", "start_pos": "736", "end_pos": "736", "site_lbl": "Ser736", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" }, { "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": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" }, { "database": "iPTMnet", "id": "Q99KG3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99KG3" } ] } ] }, { "uniprot_canonical_ac": "Q99KG3-1", "start_pos": "738", "end_pos": "738", "site_lbl": "Ser738", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" }, { "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": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99KG3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99KG3" } ] } ] }, { "uniprot_canonical_ac": "Q99KG3-1", "start_pos": "781", "end_pos": "781", "site_lbl": "Ser781", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ] } ] }, { "uniprot_canonical_ac": "Q99KG3-1", "start_pos": "797", "end_pos": "797", "site_lbl": "Ser797", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99KG3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99KG3" } ] } ] }, { "uniprot_canonical_ac": "Q99KG3-1", "start_pos": "845", "end_pos": "845", "site_lbl": "Ser845", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ] } ] }, { "uniprot_canonical_ac": "Q99KG3-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ser89", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99KG3", "url": "https://www.uniprot.org/uniprotkb/Q99KG3" } ] } ] } ], "record_id": "Q99KG3-1" }, { "uniprot_canonical_ac": "Q99P51-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99P51", "url": "https://www.uniprot.org/uniprotkb/Q99P51" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 232, "chemical_mass": 26749.0, "gene_names": "Rassf3;Rassf3", "protein_name": "Ras association 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": "Q99P51", "url": "https://www.uniprot.org/uniprotkb/Q99P51" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99P51", "url": "https://www.uniprot.org/uniprotkb/Q99P51" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q99P51", "url": "https://www.uniprot.org/uniprotkb/Q99P51" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99P51", "url": "https://www.uniprot.org/uniprotkb/Q99P51" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q99P51", "url": "https://www.uniprot.org/uniprotkb/Q99P51" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q99P51", "url": "https://www.uniprot.org/uniprotkb/Q99P51" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q99P51-1" }, { "uniprot_canonical_ac": "Q9CYN9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 350, "chemical_mass": 39092.0, "gene_names": "Atp6ap2;(P)RR;5730403E06Rik;APT6M8-9;ATP6M8-9;Atp6ap2;Atp6ip2;M8-9;PRR", "protein_name": "Renin receptor", "disease": [ { "disease_id": "DOID:0051048", "name": "congenital disorder of glycosylation type IIr", "description": "A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0051048", "evidence": [ { "id": "0051048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051048" } ], "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:0060806", "name": "syndromic X-linked intellectual disability Hedera type", "description": "A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0060806", "evidence": [ { "id": "0060806", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060806" } ], "weight": 0.0 }, { "disease_id": "DOID:0112105", "name": "X-linked parkinsonism-spasticity syndrome", "description": "A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4.", "url": "https://disease-ontology.org/term/DOID:0112105", "evidence": [ { "id": "0112105", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112105" } ], "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:5212", "name": "congenital disorder of glycosylation", "description": "A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.", "url": "https://disease-ontology.org/term/DOID:5212", "evidence": [ { "id": "5212", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5212" } ], "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": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta1 production", "id": "GO:0032914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032914", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "rostrocaudal neural tube patterning", "id": "GO:0021903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021903", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "angiotensin maturation", "id": "GO:0002003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002003", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "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": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "lysosomal lumen acidification", "id": "GO:0007042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007042", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "regulation of MAPK cascade", "id": "GO:0043408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "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": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "synaptic vesicle lumen acidification", "id": "GO:0097401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097401", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "eye pigmentation", "id": "GO:0048069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048069", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "central nervous system maturation", "id": "GO:0021626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021626", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" } ], "cellular_component": [ { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "clathrin-coated vesicle membrane", "id": "GO:0030665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030665", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "vacuolar proton-transporting V-type ATPase complex", "id": "GO:0016471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016471", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "dendritic spine membrane", "id": "GO:0032591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032591", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" }, { "name": "vacuolar proton-transporting V-type ATPase, V0 domain", "id": "GO:0000220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000220", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q9CYN9", "url": "https://www.uniprot.org/uniprotkb/Q9CYN9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CYN9-1" }, { "uniprot_canonical_ac": "Q9D7T1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D7T1", "url": "https://www.uniprot.org/uniprotkb/Q9D7T1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 230, "chemical_mass": 25854.0, "gene_names": "Rep15;2210417D09Rik;Rep15", "protein_name": "Rab15 effector protein", "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": "Q9D7T1", "url": "https://www.uniprot.org/uniprotkb/Q9D7T1" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q9D7T1", "url": "https://www.uniprot.org/uniprotkb/Q9D7T1" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q9D7T1", "url": "https://www.uniprot.org/uniprotkb/Q9D7T1" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q9D7T1", "url": "https://www.uniprot.org/uniprotkb/Q9D7T1" } ], "pmid": "" } ], "biological_process": [ { "name": "receptor recycling", "id": "GO:0001881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001881", "evidence": [ { "database": "UniProtKB", "id": "Q9D7T1", "url": "https://www.uniprot.org/uniprotkb/Q9D7T1" } ], "pmid": "" }, { "name": "transferrin transport", "id": "GO:0033572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033572", "evidence": [ { "database": "UniProtKB", "id": "Q9D7T1", "url": "https://www.uniprot.org/uniprotkb/Q9D7T1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D7T1-1" }, { "uniprot_canonical_ac": "Q9JI20-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JI20", "url": "https://www.uniprot.org/uniprotkb/Q9JI20" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 745, "chemical_mass": 82187.0, "gene_names": "Adarb2;Adar3;Adarb2;RED2;Red2", "protein_name": "Inactive double-stranded RNA-specific editase B2", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q9JI20", "url": "https://www.uniprot.org/uniprotkb/Q9JI20" } ], "pmid": "" }, { "name": "tRNA-specific adenosine deaminase activity", "id": "GO:0008251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008251", "evidence": [ { "database": "UniProtKB", "id": "Q9JI20", "url": "https://www.uniprot.org/uniprotkb/Q9JI20" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9JI20", "url": "https://www.uniprot.org/uniprotkb/Q9JI20" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "Q9JI20", "url": "https://www.uniprot.org/uniprotkb/Q9JI20" } ], "pmid": "" }, { "name": "double-stranded RNA adenosine deaminase activity", "id": "GO:0003726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003726", "evidence": [ { "database": "UniProtKB", "id": "Q9JI20", "url": "https://www.uniprot.org/uniprotkb/Q9JI20" } ], "pmid": "" }, { "name": "RNA sequestering activity", "id": "GO:0140610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140610", "evidence": [ { "database": "UniProtKB", "id": "Q9JI20", "url": "https://www.uniprot.org/uniprotkb/Q9JI20" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JI20", "url": "https://www.uniprot.org/uniprotkb/Q9JI20" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9JI20", "url": "https://www.uniprot.org/uniprotkb/Q9JI20" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9JI20", "url": "https://www.uniprot.org/uniprotkb/Q9JI20" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JI20", "url": "https://www.uniprot.org/uniprotkb/Q9JI20" } ], "pmid": "" } ], "biological_process": [ { "name": "RNA processing", "id": "GO:0006396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006396", "evidence": [ { "database": "UniProtKB", "id": "Q9JI20", "url": "https://www.uniprot.org/uniprotkb/Q9JI20" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q9JI20", "url": "https://www.uniprot.org/uniprotkb/Q9JI20" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA stabilization", "id": "GO:0070935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070935", "evidence": [ { "database": "UniProtKB", "id": "Q9JI20", "url": "https://www.uniprot.org/uniprotkb/Q9JI20" } ], "pmid": "" }, { "name": "negative regulation of mRNA modification", "id": "GO:0090367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090367", "evidence": [ { "database": "UniProtKB", "id": "Q9JI20", "url": "https://www.uniprot.org/uniprotkb/Q9JI20" } ], "pmid": "" }, { "name": "adenosine to inosine editing", "id": "GO:0006382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006382", "evidence": [ { "database": "UniProtKB", "id": "Q9JI20", "url": "https://www.uniprot.org/uniprotkb/Q9JI20" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Met144", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8619947", "evidence": [ { "id": "rs3389269121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389269121" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Val145", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8619948", "evidence": [ { "id": "rs3404047158", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404047158" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Pro229", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8620201", "evidence": [ { "id": "rs3389269110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389269110" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Asn233", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8620213", "evidence": [ { "id": "rs251610595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251610595" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Gln373", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8722464", "evidence": [ { "id": "rs3549988878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549988878" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Lys378", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8722477", "evidence": [ { "id": "rs3389268439", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268439" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Ile38", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8609151", "evidence": [ { "id": "rs218362901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218362901" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "400", "end_pos": "400", "site_lbl": "Val400", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8722543", "evidence": [ { "id": "rs37814438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37814438" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Ala410", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8747673", "evidence": [ { "id": "rs3389253371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389253371" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Ser423", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8747714", "evidence": [ { "id": "rs3389265612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389265612" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "425", "end_pos": "425", "site_lbl": "Glu425", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8747718", "evidence": [ { "id": "rs3389267376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389267376" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Cys437", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8747755", "evidence": [ { "id": "rs3389284455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389284455" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Gln454", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8747806", "evidence": [ { "id": "rs3389269154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389269154" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Tyr48", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8609181", "evidence": [ { "id": "rs3389268471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268471" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "494", "end_pos": "494", "site_lbl": "Ser494", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8751717", "evidence": [ { "id": "rs3389227296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389227296" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Gly497", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8751726", "evidence": [ { "id": "rs3389276420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276420" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Asn512", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8763640", "evidence": [ { "id": "rs3389284398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389284398" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Ala543", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8763732", "evidence": [ { "id": "rs3410685162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410685162" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Thr558", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8763776", "evidence": [ { "id": "rs3389253437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389253437" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Cys561", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8763786", "evidence": [ { "id": "rs3389253360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389253360" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "601", "end_pos": "601", "site_lbl": "Leu601", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8781927", "evidence": [ { "id": "rs3389279491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389279491" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "610", "end_pos": "610", "site_lbl": "Glu610", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8781954", "evidence": [ { "id": "rs3403853391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3403853391" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "629", "end_pos": "629", "site_lbl": "Val629", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8802611", "evidence": [ { "id": "rs3412990673", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412990673" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "636", "end_pos": "636", "site_lbl": "Gln636", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8802634", "evidence": [ { "id": "rs3389276506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276506" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "641", "end_pos": "641", "site_lbl": "Pro641", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8802647", "evidence": [ { "id": "rs3389267359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389267359" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Ala645", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8802660", "evidence": [ { "id": "rs3389199216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389199216" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Ser66", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8619712", "evidence": [ { "id": "rs3389199195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389199195" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "694", "end_pos": "694", "site_lbl": "Ser694", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8807280", "evidence": [ { "id": "rs214131362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214131362" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "695", "end_pos": "695", "site_lbl": "His695", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8807284", "evidence": [ { "id": "rs3389263180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389263180" } ] } ] }, { "uniprot_canonical_ac": "Q9JI20-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Asn77", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, housekeeping gene.", "chr_id": "13", "chr_pos": "8619745", "evidence": [ { "id": "rs3389279455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389279455" } ] } ] } ], "record_id": "Q9JI20-1" }, { "uniprot_canonical_ac": "Q9JJT0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JJT0", "url": "https://www.uniprot.org/uniprotkb/Q9JJT0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 373, "chemical_mass": 40841.0, "gene_names": "Rcl1;2310040A02Rik;RPCL1;Rcl1;Rnac", "protein_name": "RNA 3'-terminal phosphate cyclase-like protein", "disease": [], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9JJT0", "url": "https://www.uniprot.org/uniprotkb/Q9JJT0" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "Q9JJT0", "url": "https://www.uniprot.org/uniprotkb/Q9JJT0" } ], "pmid": "" } ], "biological_process": [ { "name": "endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000447", "evidence": [ { "database": "UniProtKB", "id": "Q9JJT0", "url": "https://www.uniprot.org/uniprotkb/Q9JJT0" } ], "pmid": "" }, { "name": "endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000480", "evidence": [ { "database": "UniProtKB", "id": "Q9JJT0", "url": "https://www.uniprot.org/uniprotkb/Q9JJT0" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "Q9JJT0", "url": "https://www.uniprot.org/uniprotkb/Q9JJT0" } ], "pmid": "" }, { "name": "endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000479", "evidence": [ { "database": "UniProtKB", "id": "Q9JJT0", "url": "https://www.uniprot.org/uniprotkb/Q9JJT0" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "Q9JJT0", "url": "https://www.uniprot.org/uniprotkb/Q9JJT0" } ], "pmid": "" }, { "name": "RNA processing", "id": "GO:0006396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006396", "evidence": [ { "database": "UniProtKB", "id": "Q9JJT0", "url": "https://www.uniprot.org/uniprotkb/Q9JJT0" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA endonuclease activity", "id": "GO:0004521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004521", "evidence": [ { "database": "UniProtKB", "id": "Q9JJT0", "url": "https://www.uniprot.org/uniprotkb/Q9JJT0" } ], "pmid": "" }, { "name": "catalytic activity", "id": "GO:0003824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003824", "evidence": [ { "database": "UniProtKB", "id": "Q9JJT0", "url": "https://www.uniprot.org/uniprotkb/Q9JJT0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9JJT0-1" }, { "uniprot_canonical_ac": "Q9QWZ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QWZ1", "url": "https://www.uniprot.org/uniprotkb/Q9QWZ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 280, "chemical_mass": 31610.0, "gene_names": "Rad1;Rad1;Rec1;mRAD1", "protein_name": "Cell cycle checkpoint protein RAD1", "disease": [], "biological_process": [ { "name": "meiotic recombination checkpoint signaling", "id": "GO:0051598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051598", "evidence": [ { "database": "UniProtKB", "id": "Q9QWZ1", "url": "https://www.uniprot.org/uniprotkb/Q9QWZ1" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q9QWZ1", "url": "https://www.uniprot.org/uniprotkb/Q9QWZ1" } ], "pmid": "" }, { "name": "cellular response to ionizing radiation", "id": "GO:0071479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479", "evidence": [ { "database": "UniProtKB", "id": "Q9QWZ1", "url": "https://www.uniprot.org/uniprotkb/Q9QWZ1" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "Q9QWZ1", "url": "https://www.uniprot.org/uniprotkb/Q9QWZ1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9QWZ1", "url": "https://www.uniprot.org/uniprotkb/Q9QWZ1" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q9QWZ1", "url": "https://www.uniprot.org/uniprotkb/Q9QWZ1" } ], "pmid": "" }, { "name": "checkpoint clamp complex", "id": "GO:0030896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030896", "evidence": [ { "database": "UniProtKB", "id": "Q9QWZ1", "url": "https://www.uniprot.org/uniprotkb/Q9QWZ1" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9QWZ1", "url": "https://www.uniprot.org/uniprotkb/Q9QWZ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QWZ1-1", "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": "Q9QWZ1-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Thr232", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 232, "start_aa": "Thr", "end_pos": 232, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr232", "evidence": [ { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9QWZ1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9QWZ1" }, { "id": "Q9QWZ1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9QWZ1" } ] } ] } ], "record_id": "Q9QWZ1-1" }, { "uniprot_canonical_ac": "Q9Z129-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 648, "chemical_mass": 72484.0, "gene_names": "Recql;RecQ1;Recql1;Recql", "protein_name": "ATP-dependent DNA helicase Q1", "disease": [ { "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: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: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": "3'-5' DNA helicase activity", "id": "GO:0043138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043138", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "pmid": "" }, { "name": "DNA helicase activity", "id": "GO:0003678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003678", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "pmid": "" }, { "name": "four-way junction helicase activity", "id": "GO:0009378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009378", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "pmid": "" }, { "name": "double-stranded DNA helicase activity", "id": "GO:0036121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036121", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "pmid": "" }, { "name": "DNA/DNA annealing activity", "id": "GO:1990814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990814", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "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": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "pmid": "" }, { "name": "replication fork processing", "id": "GO:0031297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031297", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z129-1", "start_pos": "597", "end_pos": "597", "site_lbl": "Ser597", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ] } ] }, { "uniprot_canonical_ac": "Q9Z129-1", "start_pos": "633", "end_pos": "633", "site_lbl": "Ser633", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z129", "url": "https://www.uniprot.org/uniprotkb/Q9Z129" } ] } ] } ], "record_id": "Q9Z129-1" }, { "uniprot_canonical_ac": "Q9CQN7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQN7", "url": "https://www.uniprot.org/uniprotkb/Q9CQN7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 135, "chemical_mass": 15262.0, "gene_names": "Mrpl41;MRP-L27;Mrpl41;Rpml27", "protein_name": "Large ribosomal subunit protein mL41", "disease": [], "cellular_component": [ { "name": "mitochondrial large ribosomal subunit", "id": "GO:0005762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005762", "evidence": [ { "database": "UniProtKB", "id": "Q9CQN7", "url": "https://www.uniprot.org/uniprotkb/Q9CQN7" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CQN7", "url": "https://www.uniprot.org/uniprotkb/Q9CQN7" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9CQN7", "url": "https://www.uniprot.org/uniprotkb/Q9CQN7" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q9CQN7", "url": "https://www.uniprot.org/uniprotkb/Q9CQN7" } ], "pmid": "" } ], "biological_process": [ { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9CQN7", "url": "https://www.uniprot.org/uniprotkb/Q9CQN7" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q9CQN7", "url": "https://www.uniprot.org/uniprotkb/Q9CQN7" } ], "pmid": "" }, { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9CQN7", "url": "https://www.uniprot.org/uniprotkb/Q9CQN7" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q9CQN7", "url": "https://www.uniprot.org/uniprotkb/Q9CQN7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CQN7-1" }, { "uniprot_canonical_ac": "Q5QGU6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5QGU6", "url": "https://www.uniprot.org/uniprotkb/Q5QGU6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 474, "chemical_mass": 52220.0, "gene_names": "Rtp3;Rtp3;Tmem7", "protein_name": "Receptor-transporting protein 3", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5QGU6", "url": "https://www.uniprot.org/uniprotkb/Q5QGU6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q5QGU6", "url": "https://www.uniprot.org/uniprotkb/Q5QGU6" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q5QGU6", "url": "https://www.uniprot.org/uniprotkb/Q5QGU6" } ], "pmid": "" }, { "name": "olfactory receptor binding", "id": "GO:0031849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031849", "evidence": [ { "database": "UniProtKB", "id": "Q5QGU6", "url": "https://www.uniprot.org/uniprotkb/Q5QGU6" } ], "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": "Q5QGU6", "url": "https://www.uniprot.org/uniprotkb/Q5QGU6" } ], "pmid": "" }, { "name": "protein insertion into membrane", "id": "GO:0051205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051205", "evidence": [ { "database": "UniProtKB", "id": "Q5QGU6", "url": "https://www.uniprot.org/uniprotkb/Q5QGU6" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of bitter taste", "id": "GO:0001580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001580", "evidence": [ { "database": "UniProtKB", "id": "Q5QGU6", "url": "https://www.uniprot.org/uniprotkb/Q5QGU6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5QGU6-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Thr107", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 107, "start_aa": "Thr", "end_pos": 107, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr107", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5QGU6-1", "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": "Q5QGU6-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Thr365", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 365, "start_aa": "Thr", "end_pos": 365, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr365", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5QGU6-1", "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": "Q5QGU6-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Thr379", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 379, "start_aa": "Thr", "end_pos": 379, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr379", "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": "110815228", "evidence": [ { "id": "rs3547575864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547575864" } ] } ] }, { "uniprot_canonical_ac": "Q5QGU6-1", "start_pos": "386", "end_pos": "386", "site_lbl": "Thr386", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 386, "start_aa": "Thr", "end_pos": 386, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr386", "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": "110815207", "evidence": [ { "id": "rs223553610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223553610" } ] } ] }, { "uniprot_canonical_ac": "Q5QGU6-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Thr393", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 393, "start_aa": "Thr", "end_pos": 393, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr393", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q5QGU6-1" }, { "uniprot_canonical_ac": "P07091-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P07091", "url": "https://www.uniprot.org/uniprotkb/P07091" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 101, "chemical_mass": 11721.0, "gene_names": "S100a4;18A2;42a;Capl;FSp1;Mts1;PeL98;S100a4;metastasin;pk9a", "protein_name": "Protein S100-A4", "disease": [], "molecular_function": [ { "name": "RAGE receptor binding", "id": "GO:0050786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050786", "evidence": [ { "database": "UniProtKB", "id": "P07091", "url": "https://www.uniprot.org/uniprotkb/P07091" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P07091", "url": "https://www.uniprot.org/uniprotkb/P07091" } ], "pmid": "" }, { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "P07091", "url": "https://www.uniprot.org/uniprotkb/P07091" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P07091", "url": "https://www.uniprot.org/uniprotkb/P07091" } ], "pmid": "" }, { "name": "transition metal ion binding", "id": "GO:0046914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046914", "evidence": [ { "database": "UniProtKB", "id": "P07091", "url": "https://www.uniprot.org/uniprotkb/P07091" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "P07091", "url": "https://www.uniprot.org/uniprotkb/P07091" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P07091", "url": "https://www.uniprot.org/uniprotkb/P07091" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P07091", "url": "https://www.uniprot.org/uniprotkb/P07091" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P07091", "url": "https://www.uniprot.org/uniprotkb/P07091" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P07091", "url": "https://www.uniprot.org/uniprotkb/P07091" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P07091", "url": "https://www.uniprot.org/uniprotkb/P07091" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P07091", "url": "https://www.uniprot.org/uniprotkb/P07091" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P07091", "url": "https://www.uniprot.org/uniprotkb/P07091" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P07091", "url": "https://www.uniprot.org/uniprotkb/P07091" } ], "pmid": "" } ], "biological_process": [ { "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": "P07091", "url": "https://www.uniprot.org/uniprotkb/P07091" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P07091-1" }, { "uniprot_canonical_ac": "P27048-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 231, "chemical_mass": 23656.0, "gene_names": "Snrpb;SM-B;SM11;SMB;SNRNP-B;Snrpb", "protein_name": "Small nuclear ribonucleoprotein-associated protein B", "disease": [ { "disease_id": "DOID:0111248", "name": "cerebrocostomandibular syndrome", "description": "A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13.", "url": "https://disease-ontology.org/term/DOID:0111248", "evidence": [ { "id": "0111248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111248" } ], "weight": 0.0 }, { "disease_id": "DOID:3492", "name": "mixed connective tissue disease", "description": "A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.", "url": "https://disease-ontology.org/term/DOID:3492", "evidence": [ { "id": "3492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3492" } ], "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: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 } ], "molecular_function": [ { "name": "U1 snRNP binding", "id": "GO:1990446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990446", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "snRNP binding", "id": "GO:0070990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070990", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "telomerase RNA binding", "id": "GO:0070034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070034", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "histone pre-mRNA DCP binding", "id": "GO:0071208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071208", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "U2 snRNP binding", "id": "GO:1990447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990447", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" } ], "cellular_component": [ { "name": "U1 snRNP", "id": "GO:0005685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005685", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "histone pre-mRNA 3'end processing complex", "id": "GO:0071204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071204", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "methylosome", "id": "GO:0034709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034709", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "U2 snRNP", "id": "GO:0005686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005686", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "post-mRNA release spliceosomal complex", "id": "GO:0071014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071014", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "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": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "U4 snRNP", "id": "GO:0005687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005687", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "telomerase holoenzyme complex", "id": "GO:0005697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005697", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "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": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "U11/U12 snRNP", "id": "GO:0034693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034693", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "U5 snRNP", "id": "GO:0005682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005682", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "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": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "SMN-Sm protein complex", "id": "GO:0034719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034719", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "U2-type prespliceosome", "id": "GO:0071004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071004", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "U12-type spliceosomal complex", "id": "GO:0005689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005689", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "post-spliceosomal complex", "id": "GO:0071020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071020", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "U7 snRNP", "id": "GO:0005683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005683", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "U2-type spliceosomal complex", "id": "GO:0005684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005684", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "U2-type precatalytic spliceosome", "id": "GO:0071005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071005", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "U12-type precatalytic spliceosome", "id": "GO:0071016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071016", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "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": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" } ], "biological_process": [ { "name": "protein methylation", "id": "GO:0006479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006479", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "spliceosomal snRNP assembly", "id": "GO:0000387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000387", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "P27048", "url": "https://www.uniprot.org/uniprotkb/P27048" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P27048-1" }, { "uniprot_canonical_ac": "Q80T69-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80T69", "url": "https://www.uniprot.org/uniprotkb/Q80T69" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 795, "chemical_mass": 89251.0, "gene_names": "Rsbn1;C230004D03Rik;E330004N01;KDM9;Kiaa3002;Rosbin;Rsbn1;Rsbn;Rsbp;mKIAA3002", "protein_name": "Lysine-specific demethylase 9", "disease": [], "molecular_function": [ { "name": "histone H4K20 demethylase activity", "id": "GO:0035575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035575", "evidence": [ { "database": "UniProtKB", "id": "Q80T69", "url": "https://www.uniprot.org/uniprotkb/Q80T69" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q80T69", "url": "https://www.uniprot.org/uniprotkb/Q80T69" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q80T69", "url": "https://www.uniprot.org/uniprotkb/Q80T69" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q80T69", "url": "https://www.uniprot.org/uniprotkb/Q80T69" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q80T69", "url": "https://www.uniprot.org/uniprotkb/Q80T69" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q80T69", "url": "https://www.uniprot.org/uniprotkb/Q80T69" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q80T69", "url": "https://www.uniprot.org/uniprotkb/Q80T69" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80T69-1", "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": "Q80T69-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Ser80", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80T69", "url": "https://www.uniprot.org/uniprotkb/Q80T69" } ] } ] }, { "uniprot_canonical_ac": "Q80T69-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Lys405", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEK->NES).", "chr_id": "3", "chr_pos": "103836176_103836177insGTTCGTCCATGTATGCATGA", "evidence": [ { "id": "rs3393019862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393019862" } ] } ] } ], "record_id": "Q80T69-1" }, { "uniprot_canonical_ac": "Q9D7N3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D7N3", "url": "https://www.uniprot.org/uniprotkb/Q9D7N3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 390, "chemical_mass": 44929.0, "gene_names": "Mrps9;2310002A08Rik;Mrp-S9;Mrps9;S9mt;mg637", "protein_name": "Small ribosomal subunit protein uS9m", "disease": [], "cellular_component": [ { "name": "mitochondrial small ribosomal subunit", "id": "GO:0005763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005763", "evidence": [ { "database": "UniProtKB", "id": "Q9D7N3", "url": "https://www.uniprot.org/uniprotkb/Q9D7N3" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9D7N3", "url": "https://www.uniprot.org/uniprotkb/Q9D7N3" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9D7N3", "url": "https://www.uniprot.org/uniprotkb/Q9D7N3" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9D7N3", "url": "https://www.uniprot.org/uniprotkb/Q9D7N3" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9D7N3", "url": "https://www.uniprot.org/uniprotkb/Q9D7N3" } ], "pmid": "" }, { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q9D7N3", "url": "https://www.uniprot.org/uniprotkb/Q9D7N3" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9D7N3", "url": "https://www.uniprot.org/uniprotkb/Q9D7N3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D7N3-1" }, { "uniprot_canonical_ac": "O35427-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35427", "url": "https://www.uniprot.org/uniprotkb/O35427" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 148, "chemical_mass": 16683.0, "gene_names": "Crcp;Crcp", "protein_name": "DNA-directed RNA polymerase III subunit RPC9", "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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O35427", "url": "https://www.uniprot.org/uniprotkb/O35427" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "O35427", "url": "https://www.uniprot.org/uniprotkb/O35427" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "O35427", "url": "https://www.uniprot.org/uniprotkb/O35427" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O35427", "url": "https://www.uniprot.org/uniprotkb/O35427" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "O35427", "url": "https://www.uniprot.org/uniprotkb/O35427" } ], "pmid": "" }, { "name": "DNA polymerase III complex", "id": "GO:0009360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009360", "evidence": [ { "database": "UniProtKB", "id": "O35427", "url": "https://www.uniprot.org/uniprotkb/O35427" } ], "pmid": "" }, { "name": "RNA polymerase III complex", "id": "GO:0005666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005666", "evidence": [ { "database": "UniProtKB", "id": "O35427", "url": "https://www.uniprot.org/uniprotkb/O35427" } ], "pmid": "" } ], "biological_process": [ { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "O35427", "url": "https://www.uniprot.org/uniprotkb/O35427" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "O35427", "url": "https://www.uniprot.org/uniprotkb/O35427" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "O35427", "url": "https://www.uniprot.org/uniprotkb/O35427" } ], "pmid": "" }, { "name": "transcription by RNA polymerase III", "id": "GO:0006383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006383", "evidence": [ { "database": "UniProtKB", "id": "O35427", "url": "https://www.uniprot.org/uniprotkb/O35427" } ], "pmid": "" }, { "name": "termination of RNA polymerase III transcription", "id": "GO:0006386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006386", "evidence": [ { "database": "UniProtKB", "id": "O35427", "url": "https://www.uniprot.org/uniprotkb/O35427" } ], "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": "O35427", "url": "https://www.uniprot.org/uniprotkb/O35427" } ], "pmid": "" } ], "molecular_function": [ { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "O35427", "url": "https://www.uniprot.org/uniprotkb/O35427" } ], "pmid": "" }, { "name": "calcitonin gene-related peptide receptor activity", "id": "GO:0001635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001635", "evidence": [ { "database": "UniProtKB", "id": "O35427", "url": "https://www.uniprot.org/uniprotkb/O35427" } ], "pmid": "" }, { "name": "DNA-directed RNA polymerase activity", "id": "GO:0003899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003899", "evidence": [ { "database": "UniProtKB", "id": "O35427", "url": "https://www.uniprot.org/uniprotkb/O35427" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O35427-1" }, { "uniprot_canonical_ac": "Q8BJZ4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BJZ4", "url": "https://www.uniprot.org/uniprotkb/Q8BJZ4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 320, "chemical_mass": 35975.0, "gene_names": "Mrps35;MDSO23;MRP-S28;MRPS28;Mrps35", "protein_name": "Small ribosomal subunit protein mS35", "disease": [], "cellular_component": [ { "name": "mitochondrial small ribosomal subunit", "id": "GO:0005763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005763", "evidence": [ { "database": "UniProtKB", "id": "Q8BJZ4", "url": "https://www.uniprot.org/uniprotkb/Q8BJZ4" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BJZ4", "url": "https://www.uniprot.org/uniprotkb/Q8BJZ4" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8BJZ4", "url": "https://www.uniprot.org/uniprotkb/Q8BJZ4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BJZ4", "url": "https://www.uniprot.org/uniprotkb/Q8BJZ4" } ], "pmid": "" }, { "name": "sperm head-tail coupling apparatus", "id": "GO:0120212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120212", "evidence": [ { "database": "UniProtKB", "id": "Q8BJZ4", "url": "https://www.uniprot.org/uniprotkb/Q8BJZ4" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q8BJZ4", "url": "https://www.uniprot.org/uniprotkb/Q8BJZ4" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q8BJZ4", "url": "https://www.uniprot.org/uniprotkb/Q8BJZ4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BJZ4-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Thr69", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 69, "start_aa": "Thr", "end_pos": 69, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr69", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q8BJZ4-1" }, { "uniprot_canonical_ac": "Q9CR08-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CR08", "url": "https://www.uniprot.org/uniprotkb/Q9CR08" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 221, "chemical_mass": 25637.0, "gene_names": "Pop4;1110023P21Rik;Pop4;Rpp29", "protein_name": "Ribonuclease P protein subunit p29", "disease": [], "cellular_component": [ { "name": "nucleolar ribonuclease P complex", "id": "GO:0005655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005655", "evidence": [ { "database": "UniProtKB", "id": "Q9CR08", "url": "https://www.uniprot.org/uniprotkb/Q9CR08" } ], "pmid": "" }, { "name": "multimeric ribonuclease P complex", "id": "GO:0030681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030681", "evidence": [ { "database": "UniProtKB", "id": "Q9CR08", "url": "https://www.uniprot.org/uniprotkb/Q9CR08" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CR08", "url": "https://www.uniprot.org/uniprotkb/Q9CR08" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9CR08", "url": "https://www.uniprot.org/uniprotkb/Q9CR08" } ], "pmid": "" }, { "name": "ribonuclease MRP complex", "id": "GO:0000172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000172", "evidence": [ { "database": "UniProtKB", "id": "Q9CR08", "url": "https://www.uniprot.org/uniprotkb/Q9CR08" } ], "pmid": "" }, { "name": "ribonuclease P complex", "id": "GO:0030677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030677", "evidence": [ { "database": "UniProtKB", "id": "Q9CR08", "url": "https://www.uniprot.org/uniprotkb/Q9CR08" } ], "pmid": "" } ], "biological_process": [ { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "Q9CR08", "url": "https://www.uniprot.org/uniprotkb/Q9CR08" } ], "pmid": "" }, { "name": "tRNA 5'-leader removal", "id": "GO:0001682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001682", "evidence": [ { "database": "UniProtKB", "id": "Q9CR08", "url": "https://www.uniprot.org/uniprotkb/Q9CR08" } ], "pmid": "" } ], "molecular_function": [ { "name": "ribonuclease P activity", "id": "GO:0004526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004526", "evidence": [ { "database": "UniProtKB", "id": "Q9CR08", "url": "https://www.uniprot.org/uniprotkb/Q9CR08" } ], "pmid": "" }, { "name": "ribonuclease P RNA binding", "id": "GO:0033204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033204", "evidence": [ { "database": "UniProtKB", "id": "Q9CR08", "url": "https://www.uniprot.org/uniprotkb/Q9CR08" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CR08-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Ser10", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CR08", "url": "https://www.uniprot.org/uniprotkb/Q9CR08" } ] } ] } ], "record_id": "Q9CR08-1" }, { "uniprot_canonical_ac": "Q9CQL6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQL6", "url": "https://www.uniprot.org/uniprotkb/Q9CQL6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 188, "chemical_mass": 21501.0, "gene_names": "Mrpl35;1110066C01Rik;Mrpl35", "protein_name": "Large ribosomal subunit protein bL35m", "disease": [], "cellular_component": [ { "name": "mitochondrial large ribosomal subunit", "id": "GO:0005762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005762", "evidence": [ { "database": "UniProtKB", "id": "Q9CQL6", "url": "https://www.uniprot.org/uniprotkb/Q9CQL6" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CQL6", "url": "https://www.uniprot.org/uniprotkb/Q9CQL6" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9CQL6", "url": "https://www.uniprot.org/uniprotkb/Q9CQL6" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q9CQL6", "url": "https://www.uniprot.org/uniprotkb/Q9CQL6" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9CQL6", "url": "https://www.uniprot.org/uniprotkb/Q9CQL6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CQL6-1" }, { "uniprot_canonical_ac": "Q3UV31-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UV31", "url": "https://www.uniprot.org/uniprotkb/Q3UV31" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 285, "chemical_mass": 30532.0, "gene_names": "Rnf223", "protein_name": "RING finger protein 223", "disease": [], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q3UV31", "url": "https://www.uniprot.org/uniprotkb/Q3UV31" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q3UV31", "url": "https://www.uniprot.org/uniprotkb/Q3UV31" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q3UV31", "url": "https://www.uniprot.org/uniprotkb/Q3UV31" } ], "pmid": "" } ], "biological_process": [ { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q3UV31", "url": "https://www.uniprot.org/uniprotkb/Q3UV31" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UV31-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Thr69", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 69, "start_aa": "Thr", "end_pos": 69, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr69", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q3UV31-1" }, { "uniprot_canonical_ac": "P10833-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 218, "chemical_mass": 23764.0, "gene_names": "Rras;Rras1;Rras", "protein_name": "Ras-related protein R-Ras", "disease": [ { "disease_id": "DOID:0050469", "name": "Costello syndrome", "description": "A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.", "url": "https://disease-ontology.org/term/DOID:0050469", "evidence": [ { "id": "0050469", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050469" } ], "weight": 0.0 }, { "disease_id": "DOID:0080690", "name": "RASopathy", "description": "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.", "url": "https://disease-ontology.org/term/DOID:0080690", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ], "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 } ], "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": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "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": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" }, { "name": "positive regulation of vasculogenesis", "id": "GO:2001214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001214", "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "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": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "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": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" }, { "name": "leukocyte differentiation", "id": "GO:0002521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002521", "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell-matrix adhesion via fibronectin", "id": "GO:1904906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904906", "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" }, { "name": "GDP binding", "id": "GO:0019003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P10833", "url": "https://www.uniprot.org/uniprotkb/P10833" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P10833-1" }, { "uniprot_canonical_ac": "P62071-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P62071", "url": "https://www.uniprot.org/uniprotkb/P62071" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 204, "chemical_mass": 23400.0, "gene_names": "Rras2;2610016H24Rik;Rras2;TC21", "protein_name": "Ras-related protein R-Ras2", "disease": [ { "disease_id": "DOID:0050469", "name": "Costello syndrome", "description": "A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.", "url": "https://disease-ontology.org/term/DOID:0050469", "evidence": [ { "id": "0050469", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050469" } ], "weight": 0.0 }, { "disease_id": "DOID:0080690", "name": "RASopathy", "description": "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.", "url": "https://disease-ontology.org/term/DOID:0080690", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ], "weight": 0.0 }, { "disease_id": "DOID:0112170", "name": "Noonan syndrome 12", "description": "A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2.", "url": "https://disease-ontology.org/term/DOID:0112170", "evidence": [ { "id": "0112170", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112170" } ], "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 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P62071", "url": "https://www.uniprot.org/uniprotkb/P62071" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P62071", "url": "https://www.uniprot.org/uniprotkb/P62071" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P62071", "url": "https://www.uniprot.org/uniprotkb/P62071" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P62071", "url": "https://www.uniprot.org/uniprotkb/P62071" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "P62071", "url": "https://www.uniprot.org/uniprotkb/P62071" } ], "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": "P62071", "url": "https://www.uniprot.org/uniprotkb/P62071" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "P62071", "url": "https://www.uniprot.org/uniprotkb/P62071" } ], "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": "P62071", "url": "https://www.uniprot.org/uniprotkb/P62071" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P62071", "url": "https://www.uniprot.org/uniprotkb/P62071" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P62071-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Ser186", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62071", "url": "https://www.uniprot.org/uniprotkb/P62071" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PRO", "id": "P62071", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=P62071" }, { "database": "iPTMnet", "id": "P62071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62071" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] } ], "record_id": "P62071-1" }, { "uniprot_canonical_ac": "P59470-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1133, "chemical_mass": 127715.0, "gene_names": "Polr3b;2700078H01Rik;A330032P03Rik;C128;Polr3b;RPC2", "protein_name": "DNA-directed RNA polymerase III subunit RPC2", "disease": [ { "disease_id": "DOID:0060786", "name": "hypomyelinating leukodystrophy", "description": "A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging.", "url": "https://disease-ontology.org/term/DOID:0060786", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ], "weight": 0.0 }, { "disease_id": "DOID:0060797", "name": "hypomyelinating leukodystrophy 8", "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23.", "url": "https://disease-ontology.org/term/DOID:0060797", "evidence": [ { "id": "0060797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060797" } ], "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 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "pmid": "" }, { "name": "ribonucleoside binding", "id": "GO:0032549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032549", "evidence": [ { "database": "UniProtKB", "id": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "pmid": "" }, { "name": "DNA-directed RNA polymerase activity", "id": "GO:0003899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003899", "evidence": [ { "database": "UniProtKB", "id": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "pmid": "" }, { "name": "DNA/RNA hybrid binding", "id": "GO:0071667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071667", "evidence": [ { "database": "UniProtKB", "id": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "pmid": "" }, { "name": "RNA polymerase III complex", "id": "GO:0005666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005666", "evidence": [ { "database": "UniProtKB", "id": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "pmid": "" }, { "name": "DNA-directed RNA polymerase complex", "id": "GO:0000428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000428", "evidence": [ { "database": "UniProtKB", "id": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "pmid": "" }, { "name": "rRNA transcription", "id": "GO:0009303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009303", "evidence": [ { "database": "UniProtKB", "id": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "pmid": "" }, { "name": "transcription by RNA polymerase III", "id": "GO:0006383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006383", "evidence": [ { "database": "UniProtKB", "id": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "pmid": "" }, { "name": "termination of RNA polymerase III transcription", "id": "GO:0006386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006386", "evidence": [ { "database": "UniProtKB", "id": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "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": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "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": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "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": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "pmid": "" }, { "name": "DNA-templated transcription elongation", "id": "GO:0006354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006354", "evidence": [ { "database": "UniProtKB", "id": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "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": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P59470", "url": "https://www.uniprot.org/uniprotkb/P59470" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P59470-1" }, { "uniprot_canonical_ac": "P52592-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 352, "chemical_mass": 38829.0, "gene_names": "S1pr2;1100001A16Rik;Edg5;Gpcr13;H218;LPb2;Lpb2;S1P2;S1pr2", "protein_name": "Sphingosine 1-phosphate receptor 2", "disease": [ { "disease_id": "DOID:0060060", "name": "non-Hodgkin lymphoma", "description": "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.", "url": "https://disease-ontology.org/term/DOID:0060060", "evidence": [ { "id": "0060060", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060060" } ], "weight": 0.0 }, { "disease_id": "DOID:0110519", "name": "autosomal recessive nonsyndromic deafness 68", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0110519", "evidence": [ { "id": "0110519", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110519" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "pmid": "" } ], "biological_process": [ { "name": "sphingosine-1-phosphate receptor signaling pathway", "id": "GO:0003376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003376", "evidence": [ { "database": "UniProtKB", "id": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "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": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "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": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "pmid": "" }, { "name": "filopodium assembly", "id": "GO:0046847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046847", "evidence": [ { "database": "UniProtKB", "id": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "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": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "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": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "pmid": "" }, { "name": "negative regulation of excitatory postsynaptic potential", "id": "GO:0090394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090394", "evidence": [ { "database": "UniProtKB", "id": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "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": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "pmid": "" }, { "name": "regulation of postsynapse assembly", "id": "GO:0150052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150052", "evidence": [ { "database": "UniProtKB", "id": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "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": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "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": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "pmid": "" }, { "name": "sphingosine-1-phosphate receptor activity", "id": "GO:0038036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038036", "evidence": [ { "database": "UniProtKB", "id": "P52592", "url": "https://www.uniprot.org/uniprotkb/P52592" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P52592-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Ser122", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 122, "start_aa": "Ser", "end_pos": 122, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser122", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "P52592", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P52592" }, { "id": "P52592", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P52592" } ] } ] }, { "uniprot_canonical_ac": "P52592-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Asn19", "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": 19, "start_aa": "Asn", "end_pos": 19, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn19", "evidence": [ { "id": "P52592", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P52592#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] } ], "record_id": "P52592-1" }, { "uniprot_canonical_ac": "Q9CPV3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CPV3", "url": "https://www.uniprot.org/uniprotkb/Q9CPV3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 142, "chemical_mass": 16493.0, "gene_names": "Mrpl42;2700009F22Rik;2900055D03Rik;D10Ertd322e;HSPC204;L31mt;L42mt;MRP-L31;MRP-L42;MRP-S32;Mrpl42;Mrps32;PTD007;Rpml31;S32mt", "protein_name": "Large ribosomal subunit protein mL42", "disease": [], "cellular_component": [ { "name": "mitochondrial large ribosomal subunit", "id": "GO:0005762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005762", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV3", "url": "https://www.uniprot.org/uniprotkb/Q9CPV3" } ], "pmid": "" }, { "name": "mitochondrial small ribosomal subunit", "id": "GO:0005763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005763", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV3", "url": "https://www.uniprot.org/uniprotkb/Q9CPV3" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV3", "url": "https://www.uniprot.org/uniprotkb/Q9CPV3" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV3", "url": "https://www.uniprot.org/uniprotkb/Q9CPV3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV3", "url": "https://www.uniprot.org/uniprotkb/Q9CPV3" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV3", "url": "https://www.uniprot.org/uniprotkb/Q9CPV3" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV3", "url": "https://www.uniprot.org/uniprotkb/Q9CPV3" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV3", "url": "https://www.uniprot.org/uniprotkb/Q9CPV3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CPV3-1" }, { "uniprot_canonical_ac": "A2A825-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 258, "chemical_mass": 28422.0, "gene_names": "Cplane2;6330545A04Rik;Cplane2;Gm723;Rsg1;b2b2804Clo;b2b2827Clo", "protein_name": "Ciliogenesis and planar polarity effector 2", "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:14679", "name": "VACTERL association", "description": "A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.", "url": "https://disease-ontology.org/term/DOID:14679", "evidence": [ { "id": "14679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14679" } ], "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": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" }, { "name": "endocardial cushion fusion", "id": "GO:0003274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003274", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" }, { "name": "regulation of smoothened signaling pathway", "id": "GO:0008589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008589", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" }, { "name": "regulation of vesicle fusion", "id": "GO:0031338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031338", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" }, { "name": "axoneme assembly", "id": "GO:0035082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035082", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" }, { "name": "regulation of exocytosis", "id": "GO:0017157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017157", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" } ], "cellular_component": [ { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2A825-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Val169", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "In pxb (pixiebob phenotype); embryos show ciliopathy-like syndrome of defects that include polydactyly, loss of ventral neural cell types, craniofacial defects, and heart defects that are likely to be responsible for death before E12.5 of gestation. Mutant embryos have fewer primary cilia than wild-type embryos, but the cilia that form are of normal length and traffic Hedgehog pathway proteins within the cilium correctly. Although the early steps of cilia initiation proceed normally in mutant cells, mother centrioles fail to extend the microtubule axoneme and fail to move the ciliary vesicle to the cell surface efficiently. No effect on its localization to the cilium basal body or its interaction with FUZ.", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" }, { "database": "PubMed", "id": "29038301", "url": "https://glygen.org/publication/PubMed/29038301" }, { "database": "PubMed", "id": "35427153", "url": "https://glygen.org/publication/PubMed/35427153" } ] } ] }, { "uniprot_canonical_ac": "A2A825-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Thr69", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Loss of localization to the cilium basal body.", "evidence": [ { "database": "UniProtKB", "id": "A2A825", "url": "https://www.uniprot.org/uniprotkb/A2A825" }, { "database": "PubMed", "id": "29038301", "url": "https://glygen.org/publication/PubMed/29038301" } ] } ] } ], "record_id": "A2A825-1" }, { "uniprot_canonical_ac": "Q80UU2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80UU2", "url": "https://www.uniprot.org/uniprotkb/Q80UU2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 280, "chemical_mass": 31129.0, "gene_names": "Rpp38", "protein_name": "Ribonuclease P protein subunit p38", "disease": [], "cellular_component": [ { "name": "nucleolar ribonuclease P complex", "id": "GO:0005655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005655", "evidence": [ { "database": "UniProtKB", "id": "Q80UU2", "url": "https://www.uniprot.org/uniprotkb/Q80UU2" } ], "pmid": "" }, { "name": "multimeric ribonuclease P complex", "id": "GO:0030681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030681", "evidence": [ { "database": "UniProtKB", "id": "Q80UU2", "url": "https://www.uniprot.org/uniprotkb/Q80UU2" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q80UU2", "url": "https://www.uniprot.org/uniprotkb/Q80UU2" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q80UU2", "url": "https://www.uniprot.org/uniprotkb/Q80UU2" } ], "pmid": "" }, { "name": "ribonuclease MRP complex", "id": "GO:0000172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000172", "evidence": [ { "database": "UniProtKB", "id": "Q80UU2", "url": "https://www.uniprot.org/uniprotkb/Q80UU2" } ], "pmid": "" } ], "biological_process": [ { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "Q80UU2", "url": "https://www.uniprot.org/uniprotkb/Q80UU2" } ], "pmid": "" }, { "name": "tRNA 5'-leader removal", "id": "GO:0001682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001682", "evidence": [ { "database": "UniProtKB", "id": "Q80UU2", "url": "https://www.uniprot.org/uniprotkb/Q80UU2" } ], "pmid": "" } ], "molecular_function": [ { "name": "ribonuclease P RNA binding", "id": "GO:0033204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033204", "evidence": [ { "database": "UniProtKB", "id": "Q80UU2", "url": "https://www.uniprot.org/uniprotkb/Q80UU2" } ], "pmid": "" }, { "name": "ribonuclease P activity", "id": "GO:0004526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004526", "evidence": [ { "database": "UniProtKB", "id": "Q80UU2", "url": "https://www.uniprot.org/uniprotkb/Q80UU2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80UU2-1", "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": "Q80UU2-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80UU2", "url": "https://www.uniprot.org/uniprotkb/Q80UU2" } ] } ] }, { "uniprot_canonical_ac": "Q80UU2-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Ser221", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80UU2", "url": "https://www.uniprot.org/uniprotkb/Q80UU2" } ] } ] }, { "uniprot_canonical_ac": "Q80UU2-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Ser230", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80UU2", "url": "https://www.uniprot.org/uniprotkb/Q80UU2" } ] } ] } ], "record_id": "Q80UU2-1" }, { "uniprot_canonical_ac": "Q8VE22-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VE22", "url": "https://www.uniprot.org/uniprotkb/Q8VE22" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 177, "chemical_mass": 20348.0, "gene_names": "Mrps23;D11Bwg1153e;MRP-S23;Mrps23;Rpms23;S23mt", "protein_name": "Small ribosomal subunit protein mS23", "disease": [ { "disease_id": "DOID:0112115", "name": "combined oxidative phosphorylation deficiency 46", "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22.", "url": "https://disease-ontology.org/term/DOID:0112115", "evidence": [ { "id": "0112115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112115" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrial small ribosomal subunit", "id": "GO:0005763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005763", "evidence": [ { "database": "UniProtKB", "id": "Q8VE22", "url": "https://www.uniprot.org/uniprotkb/Q8VE22" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8VE22", "url": "https://www.uniprot.org/uniprotkb/Q8VE22" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8VE22", "url": "https://www.uniprot.org/uniprotkb/Q8VE22" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q8VE22", "url": "https://www.uniprot.org/uniprotkb/Q8VE22" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "Q8VE22", "url": "https://www.uniprot.org/uniprotkb/Q8VE22" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q8VE22", "url": "https://www.uniprot.org/uniprotkb/Q8VE22" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q8VE22", "url": "https://www.uniprot.org/uniprotkb/Q8VE22" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q8VE22", "url": "https://www.uniprot.org/uniprotkb/Q8VE22" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q8VE22", "url": "https://www.uniprot.org/uniprotkb/Q8VE22" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VE22-1" }, { "uniprot_canonical_ac": "B2RS91-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 656, "chemical_mass": 74518.0, "gene_names": "Rrn3;E130302O19Rik;Rrn3;TIF-1A;Tif1a", "protein_name": "RNA polymerase I-specific transcription initiation factor RRN3", "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": "nucleolus organization", "id": "GO:0007000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007000", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "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": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "pmid": "" }, { "name": "ribosome biogenesis", "id": "GO:0042254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042254", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "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": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "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": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "pmid": "" }, { "name": "DNA-templated transcription initiation", "id": "GO:0006352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006352", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "pmid": "" }, { "name": "cytoplasm organization", "id": "GO:0007028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007028", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "pmid": "" }, { "name": "homeostasis of number of cells", "id": "GO:0048872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048872", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription initiation", "id": "GO:2000142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000142", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "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": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase binding", "id": "GO:0070063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070063", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "pmid": "" }, { "name": "RNA polymerase I core promoter sequence-specific DNA binding", "id": "GO:0001164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001164", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "pmid": "" }, { "name": "RNA polymerase I general transcription initiation factor activity", "id": "GO:0001181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001181", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "pmid": "" }, { "name": "RNA polymerase I core binding", "id": "GO:0001042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001042", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B2RS91-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Ser168", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B2RS91", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RS91" } ] } ] }, { "uniprot_canonical_ac": "B2RS91-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ser170", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B2RS91", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RS91" } ] } ] }, { "uniprot_canonical_ac": "B2RS91-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Thr198", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ] } ] }, { "uniprot_canonical_ac": "B2RS91-1", "start_pos": "638", "end_pos": "638", "site_lbl": "Ser638", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RS91", "url": "https://www.uniprot.org/uniprotkb/B2RS91" } ] } ] } ], "record_id": "B2RS91-1" }, { "uniprot_canonical_ac": "P62843-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 145, "chemical_mass": 17040.0, "gene_names": "Rps15;Rig;Rps15;rig", "protein_name": "Small ribosomal subunit protein uS19", "disease": [ { "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:3892", "name": "insulinoma", "description": "A pancreatic cystadenoma that is characterized by the overproduction of insulin.", "url": "https://disease-ontology.org/term/DOID:3892", "evidence": [ { "id": "3892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3892" } ], "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": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "pmid": "" }, { "name": "MDM2/MDM4 family protein binding", "id": "GO:0097371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097371", "evidence": [ { "database": "UniProtKB", "id": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "pmid": "" }, { "name": "ubiquitin ligase inhibitor activity", "id": "GO:1990948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990948", "evidence": [ { "database": "UniProtKB", "id": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "pmid": "" }, { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "pmid": "" }, { "name": "cytosolic small ribosomal subunit", "id": "GO:0022627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022627", "evidence": [ { "database": "UniProtKB", "id": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "pmid": "" }, { "name": "small ribosomal subunit", "id": "GO:0015935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015935", "evidence": [ { "database": "UniProtKB", "id": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "pmid": "" } ], "biological_process": [ { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "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": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "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": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "pmid": "" }, { "name": "ribosomal small subunit assembly", "id": "GO:0000028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000028", "evidence": [ { "database": "UniProtKB", "id": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "P62843", "url": "https://www.uniprot.org/uniprotkb/P62843" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P62843-1" }, { "uniprot_canonical_ac": "P56565-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 94, "chemical_mass": 10505.0, "gene_names": "S100a1;S100a1;S100a;S100", "protein_name": "Protein S100-A1", "disease": [], "biological_process": [ { "name": "positive regulation of sprouting angiogenesis", "id": "GO:1903672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903672", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "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": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "regulation of catalytic activity", "id": "GO:0050790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050790", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "positive regulation of voltage-gated calcium channel activity", "id": "GO:1901387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901387", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "I band", "id": "GO:0031674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031674", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "M band", "id": "GO:0031430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031430", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "A band", "id": "GO:0031672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031672", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" }, { "name": "S100 protein binding", "id": "GO:0044548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044548", "evidence": [ { "database": "UniProtKB", "id": "P56565", "url": "https://www.uniprot.org/uniprotkb/P56565" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P56565-1" }, { "uniprot_canonical_ac": "D3YYI7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3YYI7", "url": "https://www.uniprot.org/uniprotkb/D3YYI7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 515, "chemical_mass": 56036.0, "gene_names": "Rnf217;Ibrdc1;Rnf217", "protein_name": "E3 ubiquitin-protein ligase RNF217", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D3YYI7", "url": "https://www.uniprot.org/uniprotkb/D3YYI7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "D3YYI7", "url": "https://www.uniprot.org/uniprotkb/D3YYI7" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "D3YYI7", "url": "https://www.uniprot.org/uniprotkb/D3YYI7" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "D3YYI7", "url": "https://www.uniprot.org/uniprotkb/D3YYI7" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "D3YYI7", "url": "https://www.uniprot.org/uniprotkb/D3YYI7" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme binding", "id": "GO:0031624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031624", "evidence": [ { "database": "UniProtKB", "id": "D3YYI7", "url": "https://www.uniprot.org/uniprotkb/D3YYI7" } ], "pmid": "" } ], "biological_process": [ { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "D3YYI7", "url": "https://www.uniprot.org/uniprotkb/D3YYI7" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "D3YYI7", "url": "https://www.uniprot.org/uniprotkb/D3YYI7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D3YYI7-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Cys236", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of SLC40A1 degradation; when associated with A-239.", "evidence": [ { "database": "UniProtKB", "id": "D3YYI7", "url": "https://www.uniprot.org/uniprotkb/D3YYI7" }, { "database": "PubMed", "id": "33895792", "url": "https://glygen.org/publication/PubMed/33895792" } ] } ] }, { "uniprot_canonical_ac": "D3YYI7-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Cys239", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of SLC40A1 degradation; when associated with A-236.", "evidence": [ { "database": "UniProtKB", "id": "D3YYI7", "url": "https://www.uniprot.org/uniprotkb/D3YYI7" }, { "database": "PubMed", "id": "33895792", "url": "https://glygen.org/publication/PubMed/33895792" } ] } ] }, { "uniprot_canonical_ac": "D3YYI7-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Cys409", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of SLC40A1 degradation.", "evidence": [ { "database": "UniProtKB", "id": "D3YYI7", "url": "https://www.uniprot.org/uniprotkb/D3YYI7" }, { "database": "PubMed", "id": "33895792", "url": "https://glygen.org/publication/PubMed/33895792" } ] } ] } ], "record_id": "D3YYI7-1" }, { "uniprot_canonical_ac": "Q8CBB9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 362, "chemical_mass": 41524.0, "gene_names": "Rsad2;2510004L01Rik;Rsad2;SAND;Vig1;cig5", "protein_name": "S-adenosylmethionine-dependent nucleotide dehydratase RSAD2", "disease": [ { "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 } ], "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": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "CD4-positive, alpha-beta T cell activation", "id": "GO:0035710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035710", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "negative regulation of protein secretion", "id": "GO:0050709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050709", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "negative regulation of viral genome replication", "id": "GO:0045071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045071", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "regulation of ossification", "id": "GO:0030278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030278", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "positive regulation of immune response", "id": "GO:0050778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050778", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "positive regulation of toll-like receptor 7 signaling pathway", "id": "GO:0034157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034157", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "positive regulation of toll-like receptor 9 signaling pathway", "id": "GO:0034165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034165", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "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": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "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": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "lyase activity", "id": "GO:0016829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016829", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" }, { "name": "catalytic activity", "id": "GO:0003824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003824", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB9", "url": "https://www.uniprot.org/uniprotkb/Q8CBB9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8CBB9-1" }, { "uniprot_canonical_ac": "Q9D6S7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D6S7", "url": "https://www.uniprot.org/uniprotkb/Q9D6S7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 262, "chemical_mass": 29051.0, "gene_names": "Mrrf;2400002D02Rik;MRFF;MTRRF;Mrrf;RRF", "protein_name": "Ribosome-recycling factor, mitochondrial", "disease": [], "biological_process": [ { "name": "ribosome disassembly", "id": "GO:0032790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032790", "evidence": [ { "database": "UniProtKB", "id": "Q9D6S7", "url": "https://www.uniprot.org/uniprotkb/Q9D6S7" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q9D6S7", "url": "https://www.uniprot.org/uniprotkb/Q9D6S7" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9D6S7", "url": "https://www.uniprot.org/uniprotkb/Q9D6S7" } ], "pmid": "" } ], "molecular_function": [ { "name": "ribosomal large subunit binding", "id": "GO:0043023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043023", "evidence": [ { "database": "UniProtKB", "id": "Q9D6S7", "url": "https://www.uniprot.org/uniprotkb/Q9D6S7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D6S7-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Asn104", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G87661QW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DNFNKTLNIR", "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" } ] } ] } ], "record_id": "Q9D6S7-1" }, { "uniprot_canonical_ac": "Q9D1B9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D1B9", "url": "https://www.uniprot.org/uniprotkb/Q9D1B9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 257, "chemical_mass": 30170.0, "gene_names": "Mrpl28;1110015G04Rik;L28mt;MAAT1;MRP-L28;Mrpl28;p15", "protein_name": "Large ribosomal subunit protein bL28m", "disease": [], "cellular_component": [ { "name": "mitochondrial large ribosomal subunit", "id": "GO:0005762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005762", "evidence": [ { "database": "UniProtKB", "id": "Q9D1B9", "url": "https://www.uniprot.org/uniprotkb/Q9D1B9" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9D1B9", "url": "https://www.uniprot.org/uniprotkb/Q9D1B9" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9D1B9", "url": "https://www.uniprot.org/uniprotkb/Q9D1B9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9D1B9", "url": "https://www.uniprot.org/uniprotkb/Q9D1B9" } ], "pmid": "" }, { "name": "mitochondrial ribosome", "id": "GO:0005761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005761", "evidence": [ { "database": "UniProtKB", "id": "Q9D1B9", "url": "https://www.uniprot.org/uniprotkb/Q9D1B9" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "Q9D1B9", "url": "https://www.uniprot.org/uniprotkb/Q9D1B9" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q9D1B9", "url": "https://www.uniprot.org/uniprotkb/Q9D1B9" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q9D1B9", "url": "https://www.uniprot.org/uniprotkb/Q9D1B9" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9D1B9", "url": "https://www.uniprot.org/uniprotkb/Q9D1B9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D1B9-1" }, { "uniprot_canonical_ac": "Q3TD16-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3TD16", "url": "https://www.uniprot.org/uniprotkb/Q3TD16" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 648, "chemical_mass": 72279.0, "gene_names": "Rubcnl;5031414D18Rik", "protein_name": "Protein associated with UVRAG as autophagy enhancer", "disease": [], "biological_process": [ { "name": "autophagosome maturation", "id": "GO:0097352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "evidence": [ { "database": "UniProtKB", "id": "Q3TD16", "url": "https://www.uniprot.org/uniprotkb/Q3TD16" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q3TD16", "url": "https://www.uniprot.org/uniprotkb/Q3TD16" } ], "pmid": "" }, { "name": "regulation of lipid metabolic process", "id": "GO:0019216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019216", "evidence": [ { "database": "UniProtKB", "id": "Q3TD16", "url": "https://www.uniprot.org/uniprotkb/Q3TD16" } ], "pmid": "" }, { "name": "autophagosome-lysosome fusion", "id": "GO:0061909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061909", "evidence": [ { "database": "UniProtKB", "id": "Q3TD16", "url": "https://www.uniprot.org/uniprotkb/Q3TD16" } ], "pmid": "" }, { "name": "autophagosome-endosome fusion", "id": "GO:0061910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061910", "evidence": [ { "database": "UniProtKB", "id": "Q3TD16", "url": "https://www.uniprot.org/uniprotkb/Q3TD16" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol-5-phosphate binding", "id": "GO:0010314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010314", "evidence": [ { "database": "UniProtKB", "id": "Q3TD16", "url": "https://www.uniprot.org/uniprotkb/Q3TD16" } ], "pmid": "" }, { "name": "phosphatidylinositol-4-phosphate binding", "id": "GO:0070273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070273", "evidence": [ { "database": "UniProtKB", "id": "Q3TD16", "url": "https://www.uniprot.org/uniprotkb/Q3TD16" } ], "pmid": "" }, { "name": "phosphatidylinositol phosphate binding", "id": "GO:1901981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901981", "evidence": [ { "database": "UniProtKB", "id": "Q3TD16", "url": "https://www.uniprot.org/uniprotkb/Q3TD16" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate binding", "id": "GO:0032266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032266", "evidence": [ { "database": "UniProtKB", "id": "Q3TD16", "url": "https://www.uniprot.org/uniprotkb/Q3TD16" } ], "pmid": "" } ], "cellular_component": [ { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "Q3TD16", "url": "https://www.uniprot.org/uniprotkb/Q3TD16" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q3TD16", "url": "https://www.uniprot.org/uniprotkb/Q3TD16" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3TD16-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Ser144", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TD16", "url": "https://www.uniprot.org/uniprotkb/Q3TD16" } ] } ] } ], "record_id": "Q3TD16-1" }, { "uniprot_canonical_ac": "Q6NTA4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 374, "chemical_mass": 43191.0, "gene_names": "Rragb;Rragb", "protein_name": "Ras-related GTP-binding protein B", "disease": [ { "disease_id": "DOID:0061140", "name": "ragopathy", "description": "A syndrome that has_material_basis_in mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates.", "url": "https://disease-ontology.org/term/DOID:0061140", "evidence": [ { "id": "0061140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061140" } ], "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": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "pmid": "" }, { "name": "positive regulation of TOR signaling", "id": "GO:0032008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "pmid": "" }, { "name": "regulation of TOR signaling", "id": "GO:0032006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032006", "evidence": [ { "database": "UniProtKB", "id": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "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": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "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": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "pmid": "" }, { "name": "cellular response to leucine starvation", "id": "GO:1990253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990253", "evidence": [ { "database": "UniProtKB", "id": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "pmid": "" }, { "name": "GTPase binding", "id": "GO:0051020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051020", "evidence": [ { "database": "UniProtKB", "id": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "pmid": "" }, { "name": "guanyl ribonucleotide binding", "id": "GO:0032561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032561", "evidence": [ { "database": "UniProtKB", "id": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "pmid": "" }, { "name": "Gtr1-Gtr2 GTPase complex", "id": "GO:1990131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990131", "evidence": [ { "database": "UniProtKB", "id": "Q6NTA4", "url": "https://www.uniprot.org/uniprotkb/Q6NTA4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6NTA4-1" }, { "uniprot_canonical_ac": "P62858-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 69, "chemical_mass": 7841.0, "gene_names": "Rps28;Rps28", "protein_name": "Small ribosomal subunit protein eS28", "disease": [ { "disease_id": "DOID:0111894", "name": "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis", "description": "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2.", "url": "https://disease-ontology.org/term/DOID:0111894", "evidence": [ { "id": "0111894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111894" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "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": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "cytosolic small ribosomal subunit", "id": "GO:0022627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022627", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "rough endoplasmic reticulum", "id": "GO:0005791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005791", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" } ], "biological_process": [ { "name": "ribosome biogenesis", "id": "GO:0042254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042254", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "maturation of SSU-rRNA", "id": "GO:0030490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030490", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "ribosomal small subunit assembly", "id": "GO:0000028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000028", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "translation at presynapse", "id": "GO:0140236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140236", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "translation at postsynapse", "id": "GO:0140242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140242", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P62858-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Ser41", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62858", "url": "https://www.uniprot.org/uniprotkb/P62858" } ] } ] } ], "record_id": "P62858-1" }, { "uniprot_canonical_ac": "G5E872-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "G5E872", "url": "https://www.uniprot.org/uniprotkb/G5E872" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 720, "chemical_mass": 79535.0, "gene_names": "Rnpepl1;1110014H17Rik;Rnpepl1", "protein_name": "Aminopeptidase RNPEPL1", "disease": [], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "G5E872", "url": "https://www.uniprot.org/uniprotkb/G5E872" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "G5E872", "url": "https://www.uniprot.org/uniprotkb/G5E872" } ], "pmid": "" }, { "name": "metalloaminopeptidase activity", "id": "GO:0070006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070006", "evidence": [ { "database": "UniProtKB", "id": "G5E872", "url": "https://www.uniprot.org/uniprotkb/G5E872" } ], "pmid": "" }, { "name": "initiator methionyl aminopeptidase activity", "id": "GO:0004239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004239", "evidence": [ { "database": "UniProtKB", "id": "G5E872", "url": "https://www.uniprot.org/uniprotkb/G5E872" } ], "pmid": "" }, { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "G5E872", "url": "https://www.uniprot.org/uniprotkb/G5E872" } ], "pmid": "" }, { "name": "aminopeptidase activity", "id": "GO:0004177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004177", "evidence": [ { "database": "UniProtKB", "id": "G5E872", "url": "https://www.uniprot.org/uniprotkb/G5E872" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G5E872-1" }, { "uniprot_canonical_ac": "P57784-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 255, "chemical_mass": 28357.0, "gene_names": "Snrpa1;1500015N06Rik;Snrpa1", "protein_name": "U2 small nuclear ribonucleoprotein A'", "disease": [ { "disease_id": "DOID:14227", "name": "azoospermia", "description": "A male infertility disease characterized by the absence of any measurable level of sperm in semen.", "url": "https://disease-ontology.org/term/DOID:14227", "evidence": [ { "id": "14227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14227" } ], "weight": 0.0 }, { "disease_id": "DOID:65", "name": "connective tissue disease", "description": "A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.", "url": "https://disease-ontology.org/term/DOID:65", "evidence": [ { "id": "65", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:65" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "U2 snRNA binding", "id": "GO:0030620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030620", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "pmid": "" }, { "name": "U2 snRNP", "id": "GO:0005686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005686", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "pmid": "" }, { "name": "post-mRNA release spliceosomal complex", "id": "GO:0071014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071014", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "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": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "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": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "pmid": "" }, { "name": "post-spliceosomal complex", "id": "GO:0071020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071020", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "pmid": "" }, { "name": "U2-type spliceosomal complex", "id": "GO:0005684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005684", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "pmid": "" }, { "name": "U2-type precatalytic spliceosome", "id": "GO:0071005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071005", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "pmid": "" }, { "name": "small nuclear ribonucleoprotein complex", "id": "GO:0030532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030532", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P57784-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Asn210", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G09406IK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NAIANASTLAEVER", "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" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAS->HAS).", "chr_id": "7", "chr_pos": "65720992", "evidence": [ { "id": "rs3388914619", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388914619" } ] } ] }, { "uniprot_canonical_ac": "P57784-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Ser178", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ] } ] }, { "uniprot_canonical_ac": "P57784-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Ser197", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ] } ] }, { "uniprot_canonical_ac": "P57784-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Ser236", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ] } ] }, { "uniprot_canonical_ac": "P57784-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Ser255", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P57784", "url": "https://www.uniprot.org/uniprotkb/P57784" } ] } ] } ], "record_id": "P57784-1" }, { "uniprot_canonical_ac": "O70577-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 553, "chemical_mass": 61831.0, "gene_names": "Slc22a2;Oct2;Orct2;Slc22a2;mOCT2", "protein_name": "Solute carrier family 22 member 2", "disease": [ { "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: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: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: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: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: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": "neurotransmitter transmembrane transporter activity", "id": "GO:0005326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005326", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "quaternary ammonium group transmembrane transporter activity", "id": "GO:0015651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015651", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "xenobiotic transmembrane transporter activity", "id": "GO:0042910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042910", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "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": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "toxin transmembrane transporter activity", "id": "GO:0019534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019534", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "steroid binding", "id": "GO:0005496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005496", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "efflux transmembrane transporter activity", "id": "GO:0015562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015562", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "amine transmembrane transporter activity", "id": "GO:0005275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005275", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "monoamine transmembrane transporter activity", "id": "GO:0008504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008504", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "choline transmembrane transporter activity", "id": "GO:0015220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015220", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "acetylcholine transmembrane transporter activity", "id": "GO:0005277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005277", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "prostaglandin transmembrane transporter activity", "id": "GO:0015132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015132", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "thiamine transmembrane transporter activity", "id": "GO:0015234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015234", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "putrescine transmembrane transporter activity", "id": "GO:0015489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015489", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "L-arginine transmembrane transporter activity", "id": "GO:0061459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061459", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "pyrimidine nucleoside transmembrane transporter activity", "id": "GO:0015214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015214", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" } ], "biological_process": [ { "name": "quaternary ammonium group transport", "id": "GO:0015697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015697", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "acetylcholine transport", "id": "GO:0015870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015870", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "organic cation transport", "id": "GO:0015695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015695", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "monoatomic cation transport", "id": "GO:0006812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006812", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "organic anion transport", "id": "GO:0015711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015711", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "dopamine transport", "id": "GO:0015872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015872", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "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": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "amine transport", "id": "GO:0015837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015837", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "choline transport", "id": "GO:0015871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015871", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "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": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "norepinephrine transport", "id": "GO:0015874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015874", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "histamine uptake", "id": "GO:0051615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051615", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "dopamine uptake", "id": "GO:0090494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090494", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "serotonin transport", "id": "GO:0006837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006837", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "serotonin uptake", "id": "GO:0051610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051610", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "epinephrine transport", "id": "GO:0048241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048241", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "histamine transport", "id": "GO:0051608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051608", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "putrescine transport", "id": "GO:0015847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015847", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "thiamine transmembrane transport", "id": "GO:0071934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071934", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "xenobiotic transport", "id": "GO:0042908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "neurotransmitter transport", "id": "GO:0006836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006836", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "prostaglandin transport", "id": "GO:0015732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015732", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "export across plasma membrane", "id": "GO:0140115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140115", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "cellular detoxification", "id": "GO:1990748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990748", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "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": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "norepinephrine uptake", "id": "GO:0051620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051620", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "transport across blood-brain barrier", "id": "GO:0150104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150104", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" }, { "name": "cholinergic synapse", "id": "GO:0098981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098981", "evidence": [ { "database": "UniProtKB", "id": "O70577", "url": "https://www.uniprot.org/uniprotkb/O70577" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O70577-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Asn71", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 71, "start_aa": "Asn", "end_pos": 71, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn71", "evidence": [ { "id": "O70577", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O70577#ptm_processing" } ] } ] } ], "record_id": "O70577-1" }, { "uniprot_canonical_ac": "P14131-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 146, "chemical_mass": 16445.0, "gene_names": "Rps16;Rps16", "protein_name": "Small ribosomal subunit protein uS9", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" }, { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" }, { "name": "small ribosomal subunit", "id": "GO:0015935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015935", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" }, { "name": "cytosolic small ribosomal subunit", "id": "GO:0022627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022627", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" }, { "name": "maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000462", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" }, { "name": "translation at presynapse", "id": "GO:0140236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140236", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" }, { "name": "translation at postsynapse", "id": "GO:0140242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140242", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P14131-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Ser3", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P14131", "url": "https://www.uniprot.org/uniprotkb/P14131" } ] } ] } ], "record_id": "P14131-1" }, { "uniprot_canonical_ac": "P31725-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 113, "chemical_mass": 13049.0, "gene_names": "S100a9;60B8Ag;BEE22;Cagb;GAGB;L1Ag;MRP14;Mrp14;S100a9;p14", "protein_name": "Protein S100-A9", "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: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: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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "intermediate filament cytoskeleton", "id": "GO:0045111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045111", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "cornified envelope", "id": "GO:0001533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001533", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "calprotectin complex", "id": "GO:1990660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990660", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "S100A9 complex", "id": "GO:1990662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990662", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "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": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "peptidyl-cysteine S-nitrosylation", "id": "GO:0018119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018119", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "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": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "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": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "positive regulation of peptide secretion", "id": "GO:0002793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002793", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "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": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "endothelial cell migration", "id": "GO:0043542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043542", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "positive regulation of blood coagulation", "id": "GO:0030194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030194", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "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": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "chronic inflammatory response", "id": "GO:0002544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002544", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "astrocyte development", "id": "GO:0014002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014002", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "peptidyl-cysteine S-trans-nitrosylation", "id": "GO:0035606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035606", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "neutrophil aggregation", "id": "GO:0070488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070488", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "leukocyte chemotaxis", "id": "GO:0030595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030595", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "regulation of integrin biosynthetic process", "id": "GO:0045113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045113", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "autocrine signaling", "id": "GO:0035425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035425", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "regulation of respiratory burst involved in inflammatory response", "id": "GO:0060264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060264", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "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": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" }, { "name": "antioxidant activity", "id": "GO:0016209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016209", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P31725-1", "start_pos": "105", "end_pos": "105", "site_lbl": "His105", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/calcuim-binding.", "chr_id": "3", "chr_pos": "90600081", "evidence": [ { "id": "rs3388636751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388636751" } ] } ], "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Reduced histidine methylation by METTL9.", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" }, { "database": "PubMed", "id": "33563959", "url": "https://glygen.org/publication/PubMed/33563959" } ] } ] }, { "uniprot_canonical_ac": "P31725-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Arg11", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/calcuim-binding.", "chr_id": "3", "chr_pos": "90602562", "evidence": [ { "id": "rs3388636791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388636791" } ] } ] }, { "uniprot_canonical_ac": "P31725-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Asp31", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/calcuim-binding.", "chr_id": "3", "chr_pos": "90602500", "evidence": [ { "id": "rs3388640247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388640247" } ] } ] }, { "uniprot_canonical_ac": "P31725-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Arg39", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/calcuim-binding.", "chr_id": "3", "chr_pos": "90602478", "evidence": [ { "id": "rs3388647793", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388647793" } ] } ] }, { "uniprot_canonical_ac": "P31725-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Asn3", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/calcuim-binding.", "chr_id": "3", "chr_pos": "90602585", "evidence": [ { "id": "rs3388635022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388635022" } ] } ] }, { "uniprot_canonical_ac": "P31725-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Thr48", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/calcuim-binding.", "chr_id": "3", "chr_pos": "90602450", "evidence": [ { "id": "rs3388638761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388638761" } ] } ] }, { "uniprot_canonical_ac": "P31725-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Phe49", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/calcuim-binding.", "chr_id": "3", "chr_pos": "90602447", "evidence": [ { "id": "rs3388635062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388635062" } ] } ] }, { "uniprot_canonical_ac": "P31725-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Lys4", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/calcuim-binding.", "chr_id": "3", "chr_pos": "90602582", "evidence": [ { "id": "rs234502231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234502231" } ] } ] }, { "uniprot_canonical_ac": "P31725-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Glu65", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/calcuim-binding.", "chr_id": "3", "chr_pos": "90600202", "evidence": [ { "id": "rs3388646907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388646907" } ] } ] }, { "uniprot_canonical_ac": "P31725-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Pro6", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/calcuim-binding.", "chr_id": "3", "chr_pos": "90602577", "evidence": [ { "id": "rs3388646873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388646873" } ] } ] }, { "uniprot_canonical_ac": "P31725-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Leu87", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/calcuim-binding.", "chr_id": "3", "chr_pos": "90600134", "evidence": [ { "id": "rs3393381554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393381554" } ] } ] }, { "uniprot_canonical_ac": "P31725-1", "start_pos": "103", "end_pos": "103", "site_lbl": "His103", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Reduced histidine methylation by METTL9.", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" }, { "database": "PubMed", "id": "33563959", "url": "https://glygen.org/publication/PubMed/33563959" } ] } ] }, { "uniprot_canonical_ac": "P31725-1", "start_pos": "107", "end_pos": "107", "site_lbl": "His107", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Reduced histidine methylation by METTL9.", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" }, { "database": "PubMed", "id": "34562450", "url": "https://glygen.org/publication/PubMed/34562450" }, { "database": "PubMed", "id": "33563959", "url": "https://glygen.org/publication/PubMed/33563959" } ] }, { "sequence_org": "H", "sequence_mut": "F", "comment": "Reduced histidine methylation by METTL9.", "evidence": [ { "database": "UniProtKB", "id": "P31725", "url": "https://www.uniprot.org/uniprotkb/P31725" }, { "database": "PubMed", "id": "34562450", "url": "https://glygen.org/publication/PubMed/34562450" }, { "database": "PubMed", "id": "33563959", "url": "https://glygen.org/publication/PubMed/33563959" } ] } ] } ], "record_id": "P31725-1" }, { "uniprot_canonical_ac": "P56183-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P56183", "url": "https://www.uniprot.org/uniprotkb/P56183" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 494, "chemical_mass": 54777.0, "gene_names": "Rrp1;NNP-1;Nnp1;Rrp1", "protein_name": "Ribosomal RNA processing protein 1 homolog A", "disease": [], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "P56183", "url": "https://www.uniprot.org/uniprotkb/P56183" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P56183", "url": "https://www.uniprot.org/uniprotkb/P56183" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P56183", "url": "https://www.uniprot.org/uniprotkb/P56183" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "P56183", "url": "https://www.uniprot.org/uniprotkb/P56183" } ], "pmid": "" }, { "name": "preribosome, small subunit precursor", "id": "GO:0030688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030688", "evidence": [ { "database": "UniProtKB", "id": "P56183", "url": "https://www.uniprot.org/uniprotkb/P56183" } ], "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": "P56183", "url": "https://www.uniprot.org/uniprotkb/P56183" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "P56183", "url": "https://www.uniprot.org/uniprotkb/P56183" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P56183-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Ser254", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P56183", "url": "https://www.uniprot.org/uniprotkb/P56183" } ] } ] }, { "uniprot_canonical_ac": "P56183-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Ser434", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P56183", "url": "https://www.uniprot.org/uniprotkb/P56183" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P56183", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P56183" } ] } ] }, { "uniprot_canonical_ac": "P56183-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Thr455", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P56183", "url": "https://www.uniprot.org/uniprotkb/P56183" } ] } ] } ], "record_id": "P56183-1" }, { "uniprot_canonical_ac": "P62274-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P62274", "url": "https://www.uniprot.org/uniprotkb/P62274" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 56, "chemical_mass": 6677.0, "gene_names": "Rps29;Rps29", "protein_name": "Small ribosomal subunit protein uS14", "disease": [ { "disease_id": "DOID:0111889", "name": "Diamond-Blackfan anemia 13", "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3.", "url": "https://disease-ontology.org/term/DOID:0111889", "evidence": [ { "id": "0111889", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111889" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P62274", "url": "https://www.uniprot.org/uniprotkb/P62274" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P62274", "url": "https://www.uniprot.org/uniprotkb/P62274" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P62274", "url": "https://www.uniprot.org/uniprotkb/P62274" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "P62274", "url": "https://www.uniprot.org/uniprotkb/P62274" } ], "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": "P62274", "url": "https://www.uniprot.org/uniprotkb/P62274" } ], "pmid": "" }, { "name": "cytosolic small ribosomal subunit", "id": "GO:0022627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022627", "evidence": [ { "database": "UniProtKB", "id": "P62274", "url": "https://www.uniprot.org/uniprotkb/P62274" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P62274", "url": "https://www.uniprot.org/uniprotkb/P62274" } ], "pmid": "" }, { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "P62274", "url": "https://www.uniprot.org/uniprotkb/P62274" } ], "pmid": "" } ], "biological_process": [ { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "P62274", "url": "https://www.uniprot.org/uniprotkb/P62274" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "P62274", "url": "https://www.uniprot.org/uniprotkb/P62274" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P62274-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Ser9", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62274", "url": "https://www.uniprot.org/uniprotkb/P62274" } ] } ] } ], "record_id": "P62274-1" }, { "uniprot_canonical_ac": "P62754-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 249, "chemical_mass": 28681.0, "gene_names": "Rps6;Rps6;S6R", "protein_name": "Small ribosomal subunit protein eS6", "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: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": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "small ribosomal subunit", "id": "GO:0015935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015935", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "cytosolic small ribosomal subunit", "id": "GO:0022627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022627", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of bicellular tight junction assembly", "id": "GO:1903347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903347", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "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": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "cellular response to ethanol", "id": "GO:0071361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071361", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "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": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "TOR signaling", "id": "GO:0031929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031929", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "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": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "erythrocyte development", "id": "GO:0048821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048821", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "mammalian oogenesis stage", "id": "GO:0022605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022605", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "T cell proliferation involved in immune response", "id": "GO:0002309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002309", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "ribosomal small subunit assembly", "id": "GO:0000028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000028", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" }, { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P62754-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Asn4", "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": "KLNISFPATGCQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 4, "start_aa": "Asn", "end_pos": 4, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn4", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "P62754-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Ser148", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ] } ] }, { "uniprot_canonical_ac": "P62754-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Ser235", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q8BSK8-1", "kinase_gene_name": "Rps6kb1", "evidence": [ { "database": "iPTMnet", "id": "P62754", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62754" }, { "database": "PubMed", "id": "15809305", "url": "https://glygen.org/publication/PubMed/15809305" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" }, { "database": "iPTMnet", "id": "P62754", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62754" }, { "database": "PubMed", "id": "16140937", "url": "https://glygen.org/publication/PubMed/16140937" }, { "database": "PubMed", "id": "19376132", "url": "https://glygen.org/publication/PubMed/19376132" }, { "database": "PubMed", "id": "20126553", "url": "https://glygen.org/publication/PubMed/20126553" }, { "database": "PubMed", "id": "20179101", "url": "https://glygen.org/publication/PubMed/20179101" }, { "database": "PubMed", "id": "21814187", "url": "https://glygen.org/publication/PubMed/21814187" }, { "database": "PubMed", "id": "22796106", "url": "https://glygen.org/publication/PubMed/22796106" }, { "database": "PubMed", "id": "24557881", "url": "https://glygen.org/publication/PubMed/24557881" }, { "database": "PubMed", "id": "24836906", "url": "https://glygen.org/publication/PubMed/24836906" }, { "database": "PubMed", "id": "24838000", "url": "https://glygen.org/publication/PubMed/24838000" }, { "database": "PubMed", "id": "25229342", "url": "https://glygen.org/publication/PubMed/25229342" }, { "database": "PubMed", "id": "25762659", "url": "https://glygen.org/publication/PubMed/25762659" } ] } ] }, { "uniprot_canonical_ac": "P62754-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Ser236", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q8BSK8-1", "kinase_gene_name": "Rps6kb1", "evidence": [ { "database": "iPTMnet", "id": "P62754", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62754" }, { "database": "PubMed", "id": "15809305", "url": "https://glygen.org/publication/PubMed/15809305" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" }, { "database": "iPTMnet", "id": "P62754", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62754" }, { "database": "PubMed", "id": "16140937", "url": "https://glygen.org/publication/PubMed/16140937" }, { "database": "PubMed", "id": "19376132", "url": "https://glygen.org/publication/PubMed/19376132" }, { "database": "PubMed", "id": "20126553", "url": "https://glygen.org/publication/PubMed/20126553" }, { "database": "PubMed", "id": "20179101", "url": "https://glygen.org/publication/PubMed/20179101" }, { "database": "PubMed", "id": "21814187", "url": "https://glygen.org/publication/PubMed/21814187" }, { "database": "PubMed", "id": "22796106", "url": "https://glygen.org/publication/PubMed/22796106" }, { "database": "PubMed", "id": "24557881", "url": "https://glygen.org/publication/PubMed/24557881" }, { "database": "PubMed", "id": "24836906", "url": "https://glygen.org/publication/PubMed/24836906" }, { "database": "PubMed", "id": "24838000", "url": "https://glygen.org/publication/PubMed/24838000" }, { "database": "PubMed", "id": "25229342", "url": "https://glygen.org/publication/PubMed/25229342" }, { "database": "PubMed", "id": "25762659", "url": "https://glygen.org/publication/PubMed/25762659" } ] } ] }, { "uniprot_canonical_ac": "P62754-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Ser240", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" }, { "database": "PubMed", "id": "8440735", "url": "https://glygen.org/publication/PubMed/8440735" }, { "database": "PubMed", "id": "1939282", "url": "https://glygen.org/publication/PubMed/1939282" }, { "database": "iPTMnet", "id": "P62754", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62754" }, { "database": "PubMed", "id": "24838000", "url": "https://glygen.org/publication/PubMed/24838000" }, { "database": "PubMed", "id": "25229342", "url": "https://glygen.org/publication/PubMed/25229342" }, { "database": "PubMed", "id": "27237224", "url": "https://glygen.org/publication/PubMed/27237224" }, { "database": "PubMed", "id": "29894511", "url": "https://glygen.org/publication/PubMed/29894511" } ] } ] }, { "uniprot_canonical_ac": "P62754-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Ser242", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" } ] } ] }, { "uniprot_canonical_ac": "P62754-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Ser244", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "1939282", "url": "https://glygen.org/publication/PubMed/1939282" }, { "database": "PubMed", "id": "8440735", "url": "https://glygen.org/publication/PubMed/8440735" }, { "database": "iPTMnet", "id": "P62754", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62754" }, { "database": "PubMed", "id": "24838000", "url": "https://glygen.org/publication/PubMed/24838000" }, { "database": "PubMed", "id": "25229342", "url": "https://glygen.org/publication/PubMed/25229342" }, { "database": "PubMed", "id": "27237224", "url": "https://glygen.org/publication/PubMed/27237224" }, { "database": "PubMed", "id": "29894511", "url": "https://glygen.org/publication/PubMed/29894511" } ] } ] }, { "uniprot_canonical_ac": "P62754-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ser247", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62754", "url": "https://www.uniprot.org/uniprotkb/P62754" }, { "database": "PubMed", "id": "8440735", "url": "https://glygen.org/publication/PubMed/8440735" }, { "database": "iPTMnet", "id": "P62754", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62754" } ] } ] }, { "uniprot_canonical_ac": "P62754-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P62754", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P62754" }, { "database": "PubMed", "id": "26563389", "url": "https://glygen.org/publication/PubMed/26563389" }, { "database": "PubMed", "id": "30044707", "url": "https://glygen.org/publication/PubMed/30044707" }, { "database": "PubMed", "id": "31517566", "url": "https://glygen.org/publication/PubMed/31517566" }, { "database": "PubMed", "id": "32487697", "url": "https://glygen.org/publication/PubMed/32487697" } ] } ] } ], "record_id": "P62754-1" }, { "uniprot_canonical_ac": "P62855-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 115, "chemical_mass": 13015.0, "gene_names": "Rps26;Rps26", "protein_name": "Small ribosomal subunit protein eS26", "disease": [ { "disease_id": "DOID:0111888", "name": "Diamond-Blackfan anemia 10", "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS26 gene on chromosome 12q13.2.", "url": "https://disease-ontology.org/term/DOID:0111888", "evidence": [ { "id": "0111888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111888" } ], "weight": 0.0 }, { "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 } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ], "pmid": "" }, { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ], "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": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ], "pmid": "" }, { "name": "cytosolic small ribosomal subunit", "id": "GO:0022627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022627", "evidence": [ { "database": "UniProtKB", "id": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of RNA splicing", "id": "GO:0033119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033119", "evidence": [ { "database": "UniProtKB", "id": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ], "pmid": "" }, { "name": "translation at presynapse", "id": "GO:0140236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140236", "evidence": [ { "database": "UniProtKB", "id": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ], "pmid": "" }, { "name": "translation at postsynapse", "id": "GO:0140242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140242", "evidence": [ { "database": "UniProtKB", "id": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P62855-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Asn86", "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": "VVRNRSR", "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": "P62855-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Ser54", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62855", "url": "https://www.uniprot.org/uniprotkb/P62855" } ] } ] } ], "record_id": "P62855-1" }, { "uniprot_canonical_ac": "P63084-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P63084", "url": "https://www.uniprot.org/uniprotkb/P63084" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 93, "chemical_mass": 10812.0, "gene_names": "S100a5;S100D9;S100a5;S100d", "protein_name": "Protein S100-A5", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P63084", "url": "https://www.uniprot.org/uniprotkb/P63084" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P63084", "url": "https://www.uniprot.org/uniprotkb/P63084" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P63084", "url": "https://www.uniprot.org/uniprotkb/P63084" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P63084", "url": "https://www.uniprot.org/uniprotkb/P63084" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "P63084", "url": "https://www.uniprot.org/uniprotkb/P63084" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P63084", "url": "https://www.uniprot.org/uniprotkb/P63084" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "P63084", "url": "https://www.uniprot.org/uniprotkb/P63084" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P63084-1" }, { "uniprot_canonical_ac": "Q32KG4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q32KG4", "url": "https://www.uniprot.org/uniprotkb/Q32KG4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1339, "chemical_mass": 138467.0, "gene_names": "Rtl9;Gm385;Kiaa1318;Mar9;Mart9;Rgag1;Rtl9", "protein_name": "Retrotransposon Gag-like protein 9", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q32KG4-1" }, { "uniprot_canonical_ac": "Q3TLD5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 531, "chemical_mass": 59084.0, "gene_names": "Uri1;NNX3;Nnx3;Ppp1r19;Rmp;Uri1;Uri", "protein_name": "Unconventional prefoldin RPB5 interactor", "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": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "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": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "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": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "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": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "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": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "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": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" }, { "name": "negative regulation of phosphatase activity", "id": "GO:0010923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010923", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" }, { "name": "phosphatase inhibitor activity", "id": "GO:0019212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019212", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" }, { "name": "RNA polymerase II complex binding", "id": "GO:0000993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000993", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" }, { "name": "protein phosphatase inhibitor activity", "id": "GO:0004864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004864", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" }, { "name": "RPAP3/R2TP/prefoldin-like complex", "id": "GO:1990062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990062", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3TLD5-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Ser369", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ] } ] }, { "uniprot_canonical_ac": "Q3TLD5-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Ser439", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TLD5", "url": "https://www.uniprot.org/uniprotkb/Q3TLD5" } ] } ] } ], "record_id": "Q3TLD5-1" }, { "uniprot_canonical_ac": "Q3TYX8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3TYX8", "url": "https://www.uniprot.org/uniprotkb/Q3TYX8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 563, "chemical_mass": 64036.0, "gene_names": "Rufy4;F930048N03Rik;Rufy4", "protein_name": "RUN and FYVE domain-containing protein 4", "disease": [], "biological_process": [ { "name": "multivesicular body-lysosome fusion", "id": "GO:0061763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061763", "evidence": [ { "database": "UniProtKB", "id": "Q3TYX8", "url": "https://www.uniprot.org/uniprotkb/Q3TYX8" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q3TYX8", "url": "https://www.uniprot.org/uniprotkb/Q3TYX8" } ], "pmid": "" }, { "name": "positive regulation of bone resorption", "id": "GO:0045780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045780", "evidence": [ { "database": "UniProtKB", "id": "Q3TYX8", "url": "https://www.uniprot.org/uniprotkb/Q3TYX8" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q3TYX8", "url": "https://www.uniprot.org/uniprotkb/Q3TYX8" } ], "pmid": "" }, { "name": "cellular response to interleukin-4", "id": "GO:0071353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071353", "evidence": [ { "database": "UniProtKB", "id": "Q3TYX8", "url": "https://www.uniprot.org/uniprotkb/Q3TYX8" } ], "pmid": "" }, { "name": "positive regulation of exocytosis", "id": "GO:0045921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045921", "evidence": [ { "database": "UniProtKB", "id": "Q3TYX8", "url": "https://www.uniprot.org/uniprotkb/Q3TYX8" } ], "pmid": "" }, { "name": "positive regulation of retrograde axon cargo transport", "id": "GO:2001019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001019", "evidence": [ { "database": "UniProtKB", "id": "Q3TYX8", "url": "https://www.uniprot.org/uniprotkb/Q3TYX8" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q3TYX8", "url": "https://www.uniprot.org/uniprotkb/Q3TYX8" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate binding", "id": "GO:0032266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032266", "evidence": [ { "database": "UniProtKB", "id": "Q3TYX8", "url": "https://www.uniprot.org/uniprotkb/Q3TYX8" } ], "pmid": "" }, { "name": "dynactin binding", "id": "GO:0034452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034452", "evidence": [ { "database": "UniProtKB", "id": "Q3TYX8", "url": "https://www.uniprot.org/uniprotkb/Q3TYX8" } ], "pmid": "" } ], "cellular_component": [ { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "Q3TYX8", "url": "https://www.uniprot.org/uniprotkb/Q3TYX8" } ], "pmid": "" }, { "name": "endolysosome", "id": "GO:0036019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036019", "evidence": [ { "database": "UniProtKB", "id": "Q3TYX8", "url": "https://www.uniprot.org/uniprotkb/Q3TYX8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3TYX8-1" }, { "uniprot_canonical_ac": "Q3TZX3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 320, "chemical_mass": 35064.0, "gene_names": "Slc25a33;5730438N18Rik;Pnc1;Slc25a33", "protein_name": "Solute carrier family 25 member 33", "disease": [ { "disease_id": "DOID:0081328", "name": "familial hyperinsulinemic hypoglycemia 8", "description": "A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23.", "url": "https://disease-ontology.org/term/DOID:0081328", "evidence": [ { "id": "0081328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081328" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "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": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane potential", "id": "GO:0051881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051881", "evidence": [ { "database": "UniProtKB", "id": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "pmid": "" }, { "name": "regulation of oxidative phosphorylation", "id": "GO:0002082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002082", "evidence": [ { "database": "UniProtKB", "id": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "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": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "pmid": "" }, { "name": "pyrimidine nucleotide transport", "id": "GO:0006864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006864", "evidence": [ { "database": "UniProtKB", "id": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "pmid": "" }, { "name": "mitochondria-nucleus signaling pathway", "id": "GO:0031930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031930", "evidence": [ { "database": "UniProtKB", "id": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "pmid": "" }, { "name": "pyrimidine nucleotide import into mitochondrion", "id": "GO:1990519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990519", "evidence": [ { "database": "UniProtKB", "id": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "pmid": "" }, { "name": "mitochondrial respiratory chain complex III assembly", "id": "GO:0034551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034551", "evidence": [ { "database": "UniProtKB", "id": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "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": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "pmid": "" }, { "name": "mitochondrial transcription", "id": "GO:0006390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006390", "evidence": [ { "database": "UniProtKB", "id": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "pmid": "" } ], "molecular_function": [ { "name": "pyrimidine nucleotide transmembrane transporter activity", "id": "GO:0015218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015218", "evidence": [ { "database": "UniProtKB", "id": "Q3TZX3", "url": "https://www.uniprot.org/uniprotkb/Q3TZX3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3TZX3-1", "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": "Q3TZX3-1" }, { "uniprot_canonical_ac": "Q5SUV1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5SUV1", "url": "https://www.uniprot.org/uniprotkb/Q5SUV1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 442, "chemical_mass": 48665.0, "gene_names": "Rsad1;B430319G23;Rsad1", "protein_name": "Radical S-adenosyl methionine domain-containing protein 1, mitochondrial", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5SUV1", "url": "https://www.uniprot.org/uniprotkb/Q5SUV1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q5SUV1", "url": "https://www.uniprot.org/uniprotkb/Q5SUV1" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q5SUV1", "url": "https://www.uniprot.org/uniprotkb/Q5SUV1" } ], "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": "Q5SUV1", "url": "https://www.uniprot.org/uniprotkb/Q5SUV1" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q5SUV1", "url": "https://www.uniprot.org/uniprotkb/Q5SUV1" } ], "pmid": "" }, { "name": "coproporphyrinogen oxidase activity", "id": "GO:0004109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004109", "evidence": [ { "database": "UniProtKB", "id": "Q5SUV1", "url": "https://www.uniprot.org/uniprotkb/Q5SUV1" } ], "pmid": "" } ], "biological_process": [ { "name": "porphyrin-containing compound biosynthetic process", "id": "GO:0006779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006779", "evidence": [ { "database": "UniProtKB", "id": "Q5SUV1", "url": "https://www.uniprot.org/uniprotkb/Q5SUV1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5SUV1-1" }, { "uniprot_canonical_ac": "Q6IMB1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6IMB1", "url": "https://www.uniprot.org/uniprotkb/Q6IMB1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 242, "chemical_mass": 27067.0, "gene_names": "Rasl11a;1110065D03Rik;Rasl11a", "protein_name": "Ras-like protein family member 11A", "disease": [], "molecular_function": [ { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q6IMB1", "url": "https://www.uniprot.org/uniprotkb/Q6IMB1" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "Q6IMB1", "url": "https://www.uniprot.org/uniprotkb/Q6IMB1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q6IMB1", "url": "https://www.uniprot.org/uniprotkb/Q6IMB1" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6IMB1", "url": "https://www.uniprot.org/uniprotkb/Q6IMB1" } ], "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": "Q6IMB1", "url": "https://www.uniprot.org/uniprotkb/Q6IMB1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IMB1-1" }, { "uniprot_canonical_ac": "Q6P5B0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6P5B0", "url": "https://www.uniprot.org/uniprotkb/Q6P5B0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1295, "chemical_mass": 143131.0, "gene_names": "Rrp12;Kiaa0690;Rrp12;mKIAA0690", "protein_name": "RRP12-like protein", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q6P5B0", "url": "https://www.uniprot.org/uniprotkb/Q6P5B0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q6P5B0", "url": "https://www.uniprot.org/uniprotkb/Q6P5B0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6P5B0", "url": "https://www.uniprot.org/uniprotkb/Q6P5B0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6P5B0", "url": "https://www.uniprot.org/uniprotkb/Q6P5B0" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q6P5B0", "url": "https://www.uniprot.org/uniprotkb/Q6P5B0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6P5B0-1", "start_pos": "1050", "end_pos": "1050", "site_lbl": "Ser1050", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P5B0", "url": "https://www.uniprot.org/uniprotkb/Q6P5B0" } ] } ] }, { "uniprot_canonical_ac": "Q6P5B0-1", "start_pos": "1073", "end_pos": "1073", "site_lbl": "Ser1073", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P5B0", "url": "https://www.uniprot.org/uniprotkb/Q6P5B0" } ] } ] }, { "uniprot_canonical_ac": "Q6P5B0-1", "start_pos": "1081", "end_pos": "1081", "site_lbl": "Ser1081", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P5B0", "url": "https://www.uniprot.org/uniprotkb/Q6P5B0" }, { "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": "Q6P5B0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P5B0" } ] } ] }, { "uniprot_canonical_ac": "Q6P5B0-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Ser49", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P5B0", "url": "https://www.uniprot.org/uniprotkb/Q6P5B0" } ] } ] }, { "uniprot_canonical_ac": "Q6P5B0-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Ser72", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P5B0", "url": "https://www.uniprot.org/uniprotkb/Q6P5B0" } ] } ] }, { "uniprot_canonical_ac": "Q6P5B0-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Thr77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P5B0", "url": "https://www.uniprot.org/uniprotkb/Q6P5B0" } ] } ] }, { "uniprot_canonical_ac": "Q6P5B0-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Thr88", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P5B0", "url": "https://www.uniprot.org/uniprotkb/Q6P5B0" } ] } ] }, { "uniprot_canonical_ac": "Q6P5B0-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Ser97", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6P5B0", "url": "https://www.uniprot.org/uniprotkb/Q6P5B0" } ] } ] } ], "record_id": "Q6P5B0-1" }, { "uniprot_canonical_ac": "Q76KJ5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q76KJ5", "url": "https://www.uniprot.org/uniprotkb/Q76KJ5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 399, "chemical_mass": 43082.0, "gene_names": "Polr1g;1190028F09;2610103M17Rik;ASE-1;Ase1;CAST;Cd3eap;PAF49;Paf49;Polr1g", "protein_name": "DNA-directed RNA polymerase I subunit RPA34", "disease": [ { "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 } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q76KJ5", "url": "https://www.uniprot.org/uniprotkb/Q76KJ5" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q76KJ5", "url": "https://www.uniprot.org/uniprotkb/Q76KJ5" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q76KJ5", "url": "https://www.uniprot.org/uniprotkb/Q76KJ5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q76KJ5", "url": "https://www.uniprot.org/uniprotkb/Q76KJ5" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q76KJ5", "url": "https://www.uniprot.org/uniprotkb/Q76KJ5" } ], "pmid": "" }, { "name": "RNA polymerase I complex", "id": "GO:0005736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005736", "evidence": [ { "database": "UniProtKB", "id": "Q76KJ5", "url": "https://www.uniprot.org/uniprotkb/Q76KJ5" } ], "pmid": "" } ], "biological_process": [ { "name": "rRNA transcription", "id": "GO:0009303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009303", "evidence": [ { "database": "UniProtKB", "id": "Q76KJ5", "url": "https://www.uniprot.org/uniprotkb/Q76KJ5" } ], "pmid": "" }, { "name": "transcription elongation by RNA polymerase I", "id": "GO:0006362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006362", "evidence": [ { "database": "UniProtKB", "id": "Q76KJ5", "url": "https://www.uniprot.org/uniprotkb/Q76KJ5" } ], "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": "Q76KJ5", "url": "https://www.uniprot.org/uniprotkb/Q76KJ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q76KJ5-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Ser137", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q76KJ5", "url": "https://www.uniprot.org/uniprotkb/Q76KJ5" } ] } ] }, { "uniprot_canonical_ac": "Q76KJ5-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Ser173", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q76KJ5", "url": "https://www.uniprot.org/uniprotkb/Q76KJ5" } ] } ] }, { "uniprot_canonical_ac": "Q76KJ5-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Thr277", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q76KJ5", "url": "https://www.uniprot.org/uniprotkb/Q76KJ5" } ] } ] }, { "uniprot_canonical_ac": "Q76KJ5-1", "start_pos": "299", "end_pos": "299", "site_lbl": "Ser299", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q76KJ5", "url": "https://www.uniprot.org/uniprotkb/Q76KJ5" } ] } ] }, { "uniprot_canonical_ac": "Q76KJ5-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Tyr80", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q76KJ5", "url": "https://www.uniprot.org/uniprotkb/Q76KJ5" } ] } ] } ], "record_id": "Q76KJ5-1" }, { "uniprot_canonical_ac": "Q7M732-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7M732", "url": "https://www.uniprot.org/uniprotkb/Q7M732" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1744, "chemical_mass": 199048.0, "gene_names": "Rtl1;6430411K18Rik;Mar1;Mart1;Mar;Mor1;Peg11;Rtl1", "protein_name": "Retrotransposon-like protein 1", "disease": [], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q7M732", "url": "https://www.uniprot.org/uniprotkb/Q7M732" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "Q7M732", "url": "https://www.uniprot.org/uniprotkb/Q7M732" } ], "pmid": "" }, { "name": "embryonic placenta development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "Q7M732", "url": "https://www.uniprot.org/uniprotkb/Q7M732" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "Q7M732", "url": "https://www.uniprot.org/uniprotkb/Q7M732" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q7M732", "url": "https://www.uniprot.org/uniprotkb/Q7M732" } ], "pmid": "" }, { "name": "labyrinthine layer development", "id": "GO:0060711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060711", "evidence": [ { "database": "UniProtKB", "id": "Q7M732", "url": "https://www.uniprot.org/uniprotkb/Q7M732" } ], "pmid": "" }, { "name": "skeletal muscle satellite cell proliferation", "id": "GO:0014841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014841", "evidence": [ { "database": "UniProtKB", "id": "Q7M732", "url": "https://www.uniprot.org/uniprotkb/Q7M732" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7M732", "url": "https://www.uniprot.org/uniprotkb/Q7M732" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q7M732", "url": "https://www.uniprot.org/uniprotkb/Q7M732" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7M732-1" }, { "uniprot_canonical_ac": "Q80X85-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80X85", "url": "https://www.uniprot.org/uniprotkb/Q80X85" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 242, "chemical_mass": 28063.0, "gene_names": "Mrps7;MRP-S7;Mrps7;Rpms7;S7mt", "protein_name": "Small ribosomal subunit protein uS7m", "disease": [ { "disease_id": "DOID:0111497", "name": "combined oxidative phosphorylation deficiency 34", "description": "A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1.", "url": "https://disease-ontology.org/term/DOID:0111497", "evidence": [ { "id": "0111497", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111497" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrial small ribosomal subunit", "id": "GO:0005763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005763", "evidence": [ { "database": "UniProtKB", "id": "Q80X85", "url": "https://www.uniprot.org/uniprotkb/Q80X85" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q80X85", "url": "https://www.uniprot.org/uniprotkb/Q80X85" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q80X85", "url": "https://www.uniprot.org/uniprotkb/Q80X85" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "Q80X85", "url": "https://www.uniprot.org/uniprotkb/Q80X85" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q80X85", "url": "https://www.uniprot.org/uniprotkb/Q80X85" } ], "pmid": "" }, { "name": "rRNA binding", "id": "GO:0019843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019843", "evidence": [ { "database": "UniProtKB", "id": "Q80X85", "url": "https://www.uniprot.org/uniprotkb/Q80X85" } ], "pmid": "" }, { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q80X85", "url": "https://www.uniprot.org/uniprotkb/Q80X85" } ], "pmid": "" } ], "biological_process": [ { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q80X85", "url": "https://www.uniprot.org/uniprotkb/Q80X85" } ], "pmid": "" }, { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q80X85", "url": "https://www.uniprot.org/uniprotkb/Q80X85" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q80X85-1" }, { "uniprot_canonical_ac": "Q80X95-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 313, "chemical_mass": 36566.0, "gene_names": "Rraga;1300010C19Rik;FIP-1;RAGA;Rraga", "protein_name": "Ras-related GTP-binding protein A", "disease": [ { "disease_id": "DOID:0061140", "name": "ragopathy", "description": "A syndrome that has_material_basis_in mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates.", "url": "https://disease-ontology.org/term/DOID:0061140", "evidence": [ { "id": "0061140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061140" } ], "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": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "regulation of cytolysis", "id": "GO:0042268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042268", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "positive regulation of TOR signaling", "id": "GO:0032008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "protein localization to membrane", "id": "GO:0072657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072657", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "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": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "response to amino acid", "id": "GO:0043200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043200", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "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": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "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": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "positive regulation of translational initiation", "id": "GO:0045948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045948", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "protein localization to lysosome", "id": "GO:0061462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061462", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "regulation of TORC1 signaling", "id": "GO:1903432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903432", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "cellular response to methionine", "id": "GO:0061431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061431", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "protein-membrane adaptor activity", "id": "GO:0043495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043495", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "GATOR1 complex", "id": "GO:1990130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990130", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "Gtr1-Gtr2 GTPase complex", "id": "GO:1990131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990131", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" }, { "name": "FNIP-folliculin RagC/D GAP", "id": "GO:1990877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990877", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80X95-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ser309", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" } ] } ] }, { "uniprot_canonical_ac": "Q80X95-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Gln66", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Maintains GTP-bound state, leading to activate mTORC1. Knockin mice develop normally, but die within 1 day postpartum because of constitutive activation of mTORC1 that prevents response to fasting. Inhibition of mTORC1 is required for neonatal autophagy and thus nutrient homeostasis.", "evidence": [ { "database": "UniProtKB", "id": "Q80X95", "url": "https://www.uniprot.org/uniprotkb/Q80X95" }, { "database": "PubMed", "id": "23263183", "url": "https://glygen.org/publication/PubMed/23263183" } ] } ] } ], "record_id": "Q80X95-1" }, { "uniprot_canonical_ac": "Q80Y81-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 831, "chemical_mass": 92719.0, "gene_names": "Elac2;1110017O07Rik;D11Wsu80e;Elac2;Hpc2", "protein_name": "Zinc phosphodiesterase ELAC protein 2", "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:0111496", "name": "combined oxidative phosphorylation deficiency 17", "description": "A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12.", "url": "https://disease-ontology.org/term/DOID:0111496", "evidence": [ { "id": "0111496", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111496" } ], "weight": 0.0 }, { "disease_id": "DOID:0111753", "name": "infantile hypertrophic cardiomyopathy", "description": "A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8.", "url": "https://disease-ontology.org/term/DOID:0111753", "evidence": [ { "id": "0111753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111753" } ], "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": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" } ], "pmid": "" }, { "name": "mitochondrial nucleoid", "id": "GO:0042645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042645", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" } ], "pmid": "" }, { "name": "endoribonuclease complex", "id": "GO:1902555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902555", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" } ], "pmid": "" }, { "name": "3'-tRNA processing endoribonuclease activity", "id": "GO:0042781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042781", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" } ], "pmid": "" }, { "name": "tRNA-specific ribonuclease activity", "id": "GO:0004549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004549", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" } ], "pmid": "" } ], "biological_process": [ { "name": "tRNA 3'-end processing", "id": "GO:0042780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042780", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" } ], "pmid": "" }, { "name": "mitochondrial tRNA 3'-end processing", "id": "GO:1990180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990180", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80Y81-1", "start_pos": "614", "end_pos": "614", "site_lbl": "Asn614", "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": "GAEVSNTTLER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 614, "start_aa": "Asn", "end_pos": 614, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn614", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q80Y81-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q80Y81", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80Y81" } ] } ] }, { "uniprot_canonical_ac": "Q80Y81-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Ser195", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q80Y81", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80Y81" } ] } ] }, { "uniprot_canonical_ac": "Q80Y81-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Ser200", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q80Y81", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80Y81" } ] } ] }, { "uniprot_canonical_ac": "Q80Y81-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Ser204", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" } ] } ] }, { "uniprot_canonical_ac": "Q80Y81-1", "start_pos": "732", "end_pos": "732", "site_lbl": "Ser732", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" } ] } ] }, { "uniprot_canonical_ac": "Q80Y81-1", "start_pos": "792", "end_pos": "792", "site_lbl": "Thr792", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "iPTMnet", "id": "Q80Y81", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80Y81" } ] } ] }, { "uniprot_canonical_ac": "Q80Y81-1", "start_pos": "797", "end_pos": "797", "site_lbl": "Ser797", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" }, { "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": "Q80Y81", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80Y81" } ] } ] }, { "uniprot_canonical_ac": "Q80Y81-1", "start_pos": "815", "end_pos": "815", "site_lbl": "Ser815", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80Y81", "url": "https://www.uniprot.org/uniprotkb/Q80Y81" } ] } ] } ], "record_id": "Q80Y81-1" }, { "uniprot_canonical_ac": "Q80ZI2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80ZI2", "url": "https://www.uniprot.org/uniprotkb/Q80ZI2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 223, "chemical_mass": 25900.0, "gene_names": "Rtp2;Gm605;Rtp2", "protein_name": "Receptor-transporting protein 2", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q80ZI2", "url": "https://www.uniprot.org/uniprotkb/Q80ZI2" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q80ZI2", "url": "https://www.uniprot.org/uniprotkb/Q80ZI2" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q80ZI2", "url": "https://www.uniprot.org/uniprotkb/Q80ZI2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q80ZI2", "url": "https://www.uniprot.org/uniprotkb/Q80ZI2" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q80ZI2", "url": "https://www.uniprot.org/uniprotkb/Q80ZI2" } ], "pmid": "" }, { "name": "olfactory receptor binding", "id": "GO:0031849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031849", "evidence": [ { "database": "UniProtKB", "id": "Q80ZI2", "url": "https://www.uniprot.org/uniprotkb/Q80ZI2" } ], "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": "Q80ZI2", "url": "https://www.uniprot.org/uniprotkb/Q80ZI2" } ], "pmid": "" }, { "name": "protein insertion into membrane", "id": "GO:0051205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051205", "evidence": [ { "database": "UniProtKB", "id": "Q80ZI2", "url": "https://www.uniprot.org/uniprotkb/Q80ZI2" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of bitter taste", "id": "GO:0001580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001580", "evidence": [ { "database": "UniProtKB", "id": "Q80ZI2", "url": "https://www.uniprot.org/uniprotkb/Q80ZI2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q80ZI2-1" }, { "uniprot_canonical_ac": "Q8BIV3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BIV3", "url": "https://www.uniprot.org/uniprotkb/Q8BIV3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1105, "chemical_mass": 124587.0, "gene_names": "Ranbp6;C630001B19;Ranbp6", "protein_name": "Ran-binding protein 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 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BIV3", "url": "https://www.uniprot.org/uniprotkb/Q8BIV3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BIV3", "url": "https://www.uniprot.org/uniprotkb/Q8BIV3" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8BIV3", "url": "https://www.uniprot.org/uniprotkb/Q8BIV3" } ], "pmid": "" } ], "molecular_function": [ { "name": "nuclear localization sequence binding", "id": "GO:0008139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008139", "evidence": [ { "database": "UniProtKB", "id": "Q8BIV3", "url": "https://www.uniprot.org/uniprotkb/Q8BIV3" } ], "pmid": "" }, { "name": "nuclear import signal receptor activity", "id": "GO:0061608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061608", "evidence": [ { "database": "UniProtKB", "id": "Q8BIV3", "url": "https://www.uniprot.org/uniprotkb/Q8BIV3" } ], "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": "Q8BIV3", "url": "https://www.uniprot.org/uniprotkb/Q8BIV3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BIV3-1" }, { "uniprot_canonical_ac": "Q8BJ73-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BJ73", "url": "https://www.uniprot.org/uniprotkb/Q8BJ73" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 228, "chemical_mass": 25866.0, "gene_names": "Rspo4;A730099F22;A930029K19Rik;Rspo4", "protein_name": "R-spondin-4", "disease": [ { "disease_id": "DOID:0080082", "name": "nonsyndromic congenital nail disorder 4", "description": "A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13.", "url": "https://disease-ontology.org/term/DOID:0080082", "evidence": [ { "id": "0080082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080082" } ], "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": "Q8BJ73", "url": "https://www.uniprot.org/uniprotkb/Q8BJ73" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ73", "url": "https://www.uniprot.org/uniprotkb/Q8BJ73" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ73", "url": "https://www.uniprot.org/uniprotkb/Q8BJ73" } ], "pmid": "" } ], "biological_process": [ { "name": "nail development", "id": "GO:0035878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035878", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ73", "url": "https://www.uniprot.org/uniprotkb/Q8BJ73" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ73", "url": "https://www.uniprot.org/uniprotkb/Q8BJ73" } ], "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": "Q8BJ73", "url": "https://www.uniprot.org/uniprotkb/Q8BJ73" } ], "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": "Q8BJ73", "url": "https://www.uniprot.org/uniprotkb/Q8BJ73" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BJ73-1", "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": "Q8BJ73", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BJ73#ptm_processing" } ] } ] } ], "record_id": "Q8BJ73-1" }, { "uniprot_canonical_ac": "Q8BK72-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BK72", "url": "https://www.uniprot.org/uniprotkb/Q8BK72" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 415, "chemical_mass": 47779.0, "gene_names": "Mrps27;2610028H14Rik;Mrps27", "protein_name": "Small ribosomal subunit protein mS27", "disease": [], "cellular_component": [ { "name": "mitochondrial small ribosomal subunit", "id": "GO:0005763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005763", "evidence": [ { "database": "UniProtKB", "id": "Q8BK72", "url": "https://www.uniprot.org/uniprotkb/Q8BK72" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8BK72", "url": "https://www.uniprot.org/uniprotkb/Q8BK72" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BK72", "url": "https://www.uniprot.org/uniprotkb/Q8BK72" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BK72", "url": "https://www.uniprot.org/uniprotkb/Q8BK72" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8BK72", "url": "https://www.uniprot.org/uniprotkb/Q8BK72" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q8BK72", "url": "https://www.uniprot.org/uniprotkb/Q8BK72" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q8BK72", "url": "https://www.uniprot.org/uniprotkb/Q8BK72" } ], "pmid": "" }, { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q8BK72", "url": "https://www.uniprot.org/uniprotkb/Q8BK72" } ], "pmid": "" } ], "molecular_function": [ { "name": "tRNA binding", "id": "GO:0000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000049", "evidence": [ { "database": "UniProtKB", "id": "Q8BK72", "url": "https://www.uniprot.org/uniprotkb/Q8BK72" } ], "pmid": "" }, { "name": "rRNA binding", "id": "GO:0019843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019843", "evidence": [ { "database": "UniProtKB", "id": "Q8BK72", "url": "https://www.uniprot.org/uniprotkb/Q8BK72" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BK72-1" }, { "uniprot_canonical_ac": "Q8BZG5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BZG5", "url": "https://www.uniprot.org/uniprotkb/Q8BZG5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 475, "chemical_mass": 53259.0, "gene_names": "Mettl25b;Mettl25b;Rrnad1", "protein_name": "Methyltransferase-like protein 25B", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BZG5", "url": "https://www.uniprot.org/uniprotkb/Q8BZG5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BZG5-1" }, { "uniprot_canonical_ac": "Q8CBB2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CBB2", "url": "https://www.uniprot.org/uniprotkb/Q8CBB2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 566, "chemical_mass": 62622.0, "gene_names": "Slc15a5;9830102E05Rik;Slc15a5", "protein_name": "Solute carrier family 15 member 5", "disease": [], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB2", "url": "https://www.uniprot.org/uniprotkb/Q8CBB2" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB2", "url": "https://www.uniprot.org/uniprotkb/Q8CBB2" } ], "pmid": "" }, { "name": "peptide transport", "id": "GO:0015833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015833", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB2", "url": "https://www.uniprot.org/uniprotkb/Q8CBB2" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB2", "url": "https://www.uniprot.org/uniprotkb/Q8CBB2" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB2", "url": "https://www.uniprot.org/uniprotkb/Q8CBB2" } ], "pmid": "" }, { "name": "symporter activity", "id": "GO:0015293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015293", "evidence": [ { "database": "UniProtKB", "id": "Q8CBB2", "url": "https://www.uniprot.org/uniprotkb/Q8CBB2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8CBB2-1" }, { "uniprot_canonical_ac": "Q8R1Z9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R1Z9", "url": "https://www.uniprot.org/uniprotkb/Q8R1Z9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 327, "chemical_mass": 37987.0, "gene_names": "Rnf121;4930544L10Rik;Rnf121", "protein_name": "E3 ubiquitin ligase Rnf121", "disease": [], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q8R1Z9", "url": "https://www.uniprot.org/uniprotkb/Q8R1Z9" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8R1Z9", "url": "https://www.uniprot.org/uniprotkb/Q8R1Z9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8R1Z9", "url": "https://www.uniprot.org/uniprotkb/Q8R1Z9" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8R1Z9", "url": "https://www.uniprot.org/uniprotkb/Q8R1Z9" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q8R1Z9", "url": "https://www.uniprot.org/uniprotkb/Q8R1Z9" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8R1Z9", "url": "https://www.uniprot.org/uniprotkb/Q8R1Z9" } ], "pmid": "" } ], "biological_process": [ { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q8R1Z9", "url": "https://www.uniprot.org/uniprotkb/Q8R1Z9" } ], "pmid": "" }, { "name": "ERAD pathway", "id": "GO:0036503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036503", "evidence": [ { "database": "UniProtKB", "id": "Q8R1Z9", "url": "https://www.uniprot.org/uniprotkb/Q8R1Z9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8R1Z9-1" }, { "uniprot_canonical_ac": "Q8R4Y8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R4Y8", "url": "https://www.uniprot.org/uniprotkb/Q8R4Y8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2226, "chemical_mass": 248489.0, "gene_names": "Rttn;4921538A15Rik;C530033I08Rik;D230040K24;Rttn", "protein_name": "Rotatin", "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 } ], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8R4Y8", "url": "https://www.uniprot.org/uniprotkb/Q8R4Y8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8R4Y8", "url": "https://www.uniprot.org/uniprotkb/Q8R4Y8" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q8R4Y8", "url": "https://www.uniprot.org/uniprotkb/Q8R4Y8" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8R4Y8", "url": "https://www.uniprot.org/uniprotkb/Q8R4Y8" } ], "pmid": "" } ], "biological_process": [ { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q8R4Y8", "url": "https://www.uniprot.org/uniprotkb/Q8R4Y8" } ], "pmid": "" }, { "name": "centriole-centriole cohesion", "id": "GO:0010457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010457", "evidence": [ { "database": "UniProtKB", "id": "Q8R4Y8", "url": "https://www.uniprot.org/uniprotkb/Q8R4Y8" } ], "pmid": "" }, { "name": "centriole replication", "id": "GO:0007099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007099", "evidence": [ { "database": "UniProtKB", "id": "Q8R4Y8", "url": "https://www.uniprot.org/uniprotkb/Q8R4Y8" } ], "pmid": "" }, { "name": "ciliary basal body organization", "id": "GO:0032053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032053", "evidence": [ { "database": "UniProtKB", "id": "Q8R4Y8", "url": "https://www.uniprot.org/uniprotkb/Q8R4Y8" } ], "pmid": "" }, { "name": "cilium organization", "id": "GO:0044782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044782", "evidence": [ { "database": "UniProtKB", "id": "Q8R4Y8", "url": "https://www.uniprot.org/uniprotkb/Q8R4Y8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R4Y8-1", "start_pos": "1611", "end_pos": "1611", "site_lbl": "Thr1611", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1611, "start_aa": "Thr", "end_pos": 1611, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1611", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R4Y8-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Asn191", "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": "HVLSSNESSLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 191, "start_aa": "Asn", "end_pos": 191, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn191", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8R4Y8-1", "start_pos": "2084", "end_pos": "2084", "site_lbl": "Asn2084", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80408KP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LLLNMSFGEDGQQMILR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2084, "start_aa": "Asn", "end_pos": 2084, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2084", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8R4Y8-1", "start_pos": "651", "end_pos": "651", "site_lbl": "Asn651", "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": "ECLGVQNVTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 651, "start_aa": "Asn", "end_pos": 651, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8R4Y8-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Ser311", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R4Y8", "url": "https://www.uniprot.org/uniprotkb/Q8R4Y8" } ] } ] }, { "uniprot_canonical_ac": "Q8R4Y8-1", "start_pos": "2007", "end_pos": "2007", "site_lbl": "Ser2007", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "18", "chr_pos": "89133635", "evidence": [ { "id": "rs222589136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222589136" } ] } ] } ], "record_id": "Q8R4Y8-1" }, { "uniprot_canonical_ac": "Q8VCL5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VCL5", "url": "https://www.uniprot.org/uniprotkb/Q8VCL5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 447, "chemical_mass": 48479.0, "gene_names": "Slc17a9;1700019H03Rik;Slc17a9;Vnut", "protein_name": "Voltage-gated purine nucleotide uniporter SLC17A9", "disease": [ { "disease_id": "DOID:3805", "name": "porokeratosis", "description": "", "url": "https://disease-ontology.org/term/DOID:3805", "evidence": [ { "id": "3805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3805" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "Q8VCL5", "url": "https://www.uniprot.org/uniprotkb/Q8VCL5" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q8VCL5", "url": "https://www.uniprot.org/uniprotkb/Q8VCL5" } ], "pmid": "" }, { "name": "transport vesicle membrane", "id": "GO:0030658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030658", "evidence": [ { "database": "UniProtKB", "id": "Q8VCL5", "url": "https://www.uniprot.org/uniprotkb/Q8VCL5" } ], "pmid": "" }, { "name": "chromaffin granule membrane", "id": "GO:0042584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042584", "evidence": [ { "database": "UniProtKB", "id": "Q8VCL5", "url": "https://www.uniprot.org/uniprotkb/Q8VCL5" } ], "pmid": "" }, { "name": "mucin granule", "id": "GO:0098594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098594", "evidence": [ { "database": "UniProtKB", "id": "Q8VCL5", "url": "https://www.uniprot.org/uniprotkb/Q8VCL5" } ], "pmid": "" } ], "biological_process": [ { "name": "ADP transport", "id": "GO:0015866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015866", "evidence": [ { "database": "UniProtKB", "id": "Q8VCL5", "url": "https://www.uniprot.org/uniprotkb/Q8VCL5" } ], "pmid": "" }, { "name": "lysosomal protein catabolic process", "id": "GO:1905146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905146", "evidence": [ { "database": "UniProtKB", "id": "Q8VCL5", "url": "https://www.uniprot.org/uniprotkb/Q8VCL5" } ], "pmid": "" }, { "name": "guanine nucleotide transmembrane transport", "id": "GO:1903790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903790", "evidence": [ { "database": "UniProtKB", "id": "Q8VCL5", "url": "https://www.uniprot.org/uniprotkb/Q8VCL5" } ], "pmid": "" }, { "name": "ATP transport", "id": "GO:0015867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015867", "evidence": [ { "database": "UniProtKB", "id": "Q8VCL5", "url": "https://www.uniprot.org/uniprotkb/Q8VCL5" } ], "pmid": "" }, { "name": "ATP export", "id": "GO:1904669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904669", "evidence": [ { "database": "UniProtKB", "id": "Q8VCL5", "url": "https://www.uniprot.org/uniprotkb/Q8VCL5" } ], "pmid": "" }, { "name": "purine nucleotide import into lysosome", "id": "GO:0141013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141013", "evidence": [ { "database": "UniProtKB", "id": "Q8VCL5", "url": "https://www.uniprot.org/uniprotkb/Q8VCL5" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP transmembrane transporter activity", "id": "GO:0005347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005347", "evidence": [ { "database": "UniProtKB", "id": "Q8VCL5", "url": "https://www.uniprot.org/uniprotkb/Q8VCL5" } ], "pmid": "" }, { "name": "ADP transmembrane transporter activity", "id": "GO:0015217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015217", "evidence": [ { "database": "UniProtKB", "id": "Q8VCL5", "url": "https://www.uniprot.org/uniprotkb/Q8VCL5" } ], "pmid": "" }, { "name": "guanine nucleotide transmembrane transporter activity", "id": "GO:0001409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001409", "evidence": [ { "database": "UniProtKB", "id": "Q8VCL5", "url": "https://www.uniprot.org/uniprotkb/Q8VCL5" } ], "pmid": "" }, { "name": "purine nucleotide uniporter activity", "id": "GO:0160042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160042", "evidence": [ { "database": "UniProtKB", "id": "Q8VCL5", "url": "https://www.uniprot.org/uniprotkb/Q8VCL5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VCL5-1" }, { "uniprot_canonical_ac": "Q8VCZ8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VCZ8", "url": "https://www.uniprot.org/uniprotkb/Q8VCZ8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 306, "chemical_mass": 34231.0, "gene_names": "Rpusd1;2310051D06Rik;Rlucl;Rpusd1", "protein_name": "Pseudouridylate synthase RPUSD1", "disease": [], "biological_process": [ { "name": "enzyme-directed rRNA pseudouridine synthesis", "id": "GO:0000455", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000455", "evidence": [ { "database": "UniProtKB", "id": "Q8VCZ8", "url": "https://www.uniprot.org/uniprotkb/Q8VCZ8" } ], "pmid": "" }, { "name": "pseudouridine synthesis", "id": "GO:0001522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001522", "evidence": [ { "database": "UniProtKB", "id": "Q8VCZ8", "url": "https://www.uniprot.org/uniprotkb/Q8VCZ8" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8VCZ8", "url": "https://www.uniprot.org/uniprotkb/Q8VCZ8" } ], "pmid": "" }, { "name": "pseudouridine synthase activity", "id": "GO:0009982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009982", "evidence": [ { "database": "UniProtKB", "id": "Q8VCZ8", "url": "https://www.uniprot.org/uniprotkb/Q8VCZ8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VCZ8-1" }, { "uniprot_canonical_ac": "Q8VDS4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VDS4", "url": "https://www.uniprot.org/uniprotkb/Q8VDS4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 312, "chemical_mass": 35701.0, "gene_names": "Rprd1a;Kiaa4077;P15rs;Rprd1a;mKIAA4077", "protein_name": "Regulation of nuclear pre-mRNA domain-containing protein 1A", "disease": [], "cellular_component": [ { "name": "transcription preinitiation complex", "id": "GO:0097550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097550", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS4", "url": "https://www.uniprot.org/uniprotkb/Q8VDS4" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS4", "url": "https://www.uniprot.org/uniprotkb/Q8VDS4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS4", "url": "https://www.uniprot.org/uniprotkb/Q8VDS4" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS4", "url": "https://www.uniprot.org/uniprotkb/Q8VDS4" } ], "pmid": "" }, { "name": "RNA polymerase II complex binding", "id": "GO:0000993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000993", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS4", "url": "https://www.uniprot.org/uniprotkb/Q8VDS4" } ], "pmid": "" }, { "name": "RNA polymerase II C-terminal domain binding", "id": "GO:0099122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099122", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS4", "url": "https://www.uniprot.org/uniprotkb/Q8VDS4" } ], "pmid": "" } ], "biological_process": [ { "name": "RNA polymerase II promoter clearance", "id": "GO:0001111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001111", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS4", "url": "https://www.uniprot.org/uniprotkb/Q8VDS4" } ], "pmid": "" }, { "name": "mRNA 3'-end processing", "id": "GO:0031124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031124", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS4", "url": "https://www.uniprot.org/uniprotkb/Q8VDS4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VDS4-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Ser153", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS4", "url": "https://www.uniprot.org/uniprotkb/Q8VDS4" } ] } ] }, { "uniprot_canonical_ac": "Q8VDS4-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Ser156", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS4", "url": "https://www.uniprot.org/uniprotkb/Q8VDS4" } ] } ] }, { "uniprot_canonical_ac": "Q8VDS4-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Ser285", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS4", "url": "https://www.uniprot.org/uniprotkb/Q8VDS4" } ] } ] } ], "record_id": "Q8VDS4-1" }, { "uniprot_canonical_ac": "Q922H7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q922H7", "url": "https://www.uniprot.org/uniprotkb/Q922H7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 247, "chemical_mass": 27362.0, "gene_names": "Rasl11b;1190017B18Rik;Rasl11b", "protein_name": "Ras-like protein family member 11B", "disease": [], "molecular_function": [ { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q922H7", "url": "https://www.uniprot.org/uniprotkb/Q922H7" } ], "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": "Q922H7", "url": "https://www.uniprot.org/uniprotkb/Q922H7" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "Q922H7", "url": "https://www.uniprot.org/uniprotkb/Q922H7" } ], "pmid": "" } ], "biological_process": [ { "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": "Q922H7", "url": "https://www.uniprot.org/uniprotkb/Q922H7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q922H7-1" }, { "uniprot_canonical_ac": "Q924T2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q924T2", "url": "https://www.uniprot.org/uniprotkb/Q924T2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 291, "chemical_mass": 32313.0, "gene_names": "Mrps2;1500019M10Rik;Mrps2", "protein_name": "Small ribosomal subunit protein uS2m", "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 }, { "disease_id": "DOID:0111482", "name": "combined oxidative phosphorylation deficiency 36", "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3.", "url": "https://disease-ontology.org/term/DOID:0111482", "evidence": [ { "id": "0111482", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111482" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrial small ribosomal subunit", "id": "GO:0005763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005763", "evidence": [ { "database": "UniProtKB", "id": "Q924T2", "url": "https://www.uniprot.org/uniprotkb/Q924T2" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q924T2", "url": "https://www.uniprot.org/uniprotkb/Q924T2" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q924T2", "url": "https://www.uniprot.org/uniprotkb/Q924T2" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q924T2", "url": "https://www.uniprot.org/uniprotkb/Q924T2" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q924T2", "url": "https://www.uniprot.org/uniprotkb/Q924T2" } ], "pmid": "" }, { "name": "mitochondrial ribosome assembly", "id": "GO:0061668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061668", "evidence": [ { "database": "UniProtKB", "id": "Q924T2", "url": "https://www.uniprot.org/uniprotkb/Q924T2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q924T2-1" }, { "uniprot_canonical_ac": "Q99JH1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99JH1", "url": "https://www.uniprot.org/uniprotkb/Q99JH1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 163, "chemical_mass": 17675.0, "gene_names": "Rpp25l;2810432D09Rik;Rpp25l;Rppl25", "protein_name": "Ribonuclease P protein subunit p25-like protein", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q99JH1", "url": "https://www.uniprot.org/uniprotkb/Q99JH1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99JH1", "url": "https://www.uniprot.org/uniprotkb/Q99JH1" } ], "pmid": "" }, { "name": "ribonuclease MRP complex", "id": "GO:0000172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000172", "evidence": [ { "database": "UniProtKB", "id": "Q99JH1", "url": "https://www.uniprot.org/uniprotkb/Q99JH1" } ], "pmid": "" } ], "biological_process": [ { "name": "tRNA 5'-leader removal", "id": "GO:0001682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001682", "evidence": [ { "database": "UniProtKB", "id": "Q99JH1", "url": "https://www.uniprot.org/uniprotkb/Q99JH1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99JH1-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Thr85", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 85, "start_aa": "Thr", "end_pos": 85, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr85", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q99JH1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99JH1" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" } ] } ] } ], "record_id": "Q99JH1-1" }, { "uniprot_canonical_ac": "Q99K95-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99K95", "url": "https://www.uniprot.org/uniprotkb/Q99K95" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 307, "chemical_mass": 33935.0, "gene_names": "Rtf2;1700067C04Rik;2410001C21Rik;5730427M17Rik;Rtf2;Rtfdc1", "protein_name": "Replication termination factor 2", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q99K95", "url": "https://www.uniprot.org/uniprotkb/Q99K95" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99K95", "url": "https://www.uniprot.org/uniprotkb/Q99K95" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99K95", "url": "https://www.uniprot.org/uniprotkb/Q99K95" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q99K95", "url": "https://www.uniprot.org/uniprotkb/Q99K95" } ], "pmid": "" }, { "name": "replication fork", "id": "GO:0005657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005657", "evidence": [ { "database": "UniProtKB", "id": "Q99K95", "url": "https://www.uniprot.org/uniprotkb/Q99K95" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of DNA stability", "id": "GO:0097752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097752", "evidence": [ { "database": "UniProtKB", "id": "Q99K95", "url": "https://www.uniprot.org/uniprotkb/Q99K95" } ], "pmid": "" }, { "name": "cellular response to hydroxyurea", "id": "GO:0072711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072711", "evidence": [ { "database": "UniProtKB", "id": "Q99K95", "url": "https://www.uniprot.org/uniprotkb/Q99K95" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "288", "end_pos": "288", "site_lbl": "Ser288", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99K95", "url": "https://www.uniprot.org/uniprotkb/Q99K95" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Gly101", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172288584", "evidence": [ { "id": "rs581863493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581863493" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Val124", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172288653", "evidence": [ { "id": "rs3388608764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388608764" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Gly125", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172288657", "evidence": [ { "id": "rs3388619295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388619295" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Arg138", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172288968", "evidence": [ { "id": "rs3388613773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388613773" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Gly141", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172288978", "evidence": [ { "id": "rs3388616860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388616860" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Gln165", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172305112", "evidence": [ { "id": "rs242928319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242928319" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ile170", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172305128", "evidence": [ { "id": "rs27596431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27596431" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Asn173", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172305137", "evidence": [ { "id": "rs3388605121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388605121" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Thr206", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172308218", "evidence": [ { "id": "rs237544741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237544741" } ] }, { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172308218", "evidence": [ { "id": "rs237544741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237544741" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172308218", "evidence": [ { "id": "rs237544741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237544741" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Ser241", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172308420", "evidence": [ { "id": "rs3388617078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388617078" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Pro243", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172308427", "evidence": [ { "id": "rs27596409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27596409" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Ala254", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172310530", "evidence": [ { "id": "rs243177639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243177639" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Pro262", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172310555", "evidence": [ { "id": "rs212566175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212566175" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Cys263", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172310558", "evidence": [ { "id": "rs260168455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260168455" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Arg268", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172310573", "evidence": [ { "id": "rs3388613739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388613739" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Lys26", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172286574", "evidence": [ { "id": "rs3388605052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388605052" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ser40", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172286617", "evidence": [ { "id": "rs3388607100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388607100" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "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, glycosyltransferase.", "chr_id": "2", "chr_pos": "172286622", "evidence": [ { "id": "rs3388612804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388612804" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Phe65", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172287275", "evidence": [ { "id": "rs3388600489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388600489" } ] } ] }, { "uniprot_canonical_ac": "Q99K95-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Thr89", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "172288549", "evidence": [ { "id": "rs3388615838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388615838" } ] } ] } ], "record_id": "Q99K95-1" }, { "uniprot_canonical_ac": "Q99LF4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 505, "chemical_mass": 55249.0, "gene_names": "Rtcb;D10Wsu52e;FAAP;HSPC117;Rtcb", "protein_name": "RNA-splicing ligase RTCB", "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": "mRNA splicing, via endonucleolytic cleavage and ligation", "id": "GO:0070054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070054", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" }, { "name": "IRE1-mediated unfolded protein response", "id": "GO:0036498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036498", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" }, { "name": "tRNA splicing, via endonucleolytic cleavage and ligation", "id": "GO:0006388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006388", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" }, { "name": "RNA splicing, via endonucleolytic cleavage and ligation", "id": "GO:0000394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000394", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" }, { "name": "tRNA exon ligation", "id": "GO:0000968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000968", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" }, { "name": "vinculin binding", "id": "GO:0017166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017166", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" }, { "name": "protein guanylyltransferase activity", "id": "GO:0044600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044600", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" }, { "name": "RNA ligase (GTP) activity", "id": "GO:0170057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0170057", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" }, { "name": "tRNA-splicing ligase complex", "id": "GO:0072669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072669", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" }, { "name": "catalytic complex", "id": "GO:1902494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902494", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99LF4-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Ser300", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LF4", "url": "https://www.uniprot.org/uniprotkb/Q99LF4" } ] } ] } ], "record_id": "Q99LF4-1" }, { "uniprot_canonical_ac": "Q99M03-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99M03", "url": "https://www.uniprot.org/uniprotkb/Q99M03" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 290, "chemical_mass": 32892.0, "gene_names": "Rwdd2b;ORF5;Rwdd2b", "protein_name": "RWD domain-containing protein 2B", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q99M03-1" }, { "uniprot_canonical_ac": "Q99M28-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99M28", "url": "https://www.uniprot.org/uniprotkb/Q99M28" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 305, "chemical_mass": 34208.0, "gene_names": "Rnps1;Rnps1", "protein_name": "RNA-binding protein with serine-rich domain 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99M28", "url": "https://www.uniprot.org/uniprotkb/Q99M28" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99M28", "url": "https://www.uniprot.org/uniprotkb/Q99M28" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99M28", "url": "https://www.uniprot.org/uniprotkb/Q99M28" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q99M28", "url": "https://www.uniprot.org/uniprotkb/Q99M28" } ], "pmid": "" }, { "name": "ASAP complex", "id": "GO:0061574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061574", "evidence": [ { "database": "UniProtKB", "id": "Q99M28", "url": "https://www.uniprot.org/uniprotkb/Q99M28" } ], "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": "Q99M28", "url": "https://www.uniprot.org/uniprotkb/Q99M28" } ], "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": "Q99M28", "url": "https://www.uniprot.org/uniprotkb/Q99M28" } ], "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": "Q99M28", "url": "https://www.uniprot.org/uniprotkb/Q99M28" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q99M28", "url": "https://www.uniprot.org/uniprotkb/Q99M28" } ], "pmid": "" }, { "name": "regulation of mRNA processing", "id": "GO:0050684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050684", "evidence": [ { "database": "UniProtKB", "id": "Q99M28", "url": "https://www.uniprot.org/uniprotkb/Q99M28" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "Q99M28", "url": "https://www.uniprot.org/uniprotkb/Q99M28" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "Q99M28", "url": "https://www.uniprot.org/uniprotkb/Q99M28" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99M28-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Asn302", "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": "SRSSSNSSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 302, "start_aa": "Asn", "end_pos": 302, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn302", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "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": "17", "chr_pos": "24644147", "evidence": [ { "id": "rs3389456167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389456167" } ] } ] }, { "uniprot_canonical_ac": "Q99M28-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Ser155", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99M28", "url": "https://www.uniprot.org/uniprotkb/Q99M28" } ] } ] }, { "uniprot_canonical_ac": "Q99M28-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Ser157", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99M28", "url": "https://www.uniprot.org/uniprotkb/Q99M28" } ] } ] }, { "uniprot_canonical_ac": "Q99M28-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Thr161", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99M28", "url": "https://www.uniprot.org/uniprotkb/Q99M28" } ] } ] }, { "uniprot_canonical_ac": "Q99M28-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Ser53", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99M28", "url": "https://www.uniprot.org/uniprotkb/Q99M28" } ] } ] }, { "uniprot_canonical_ac": "Q99M28-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Ser67", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SAS->NAS).", "chr_id": "17", "chr_pos": "24637559", "evidence": [ { "id": "rs3389433216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389433216" } ] } ] }, { "uniprot_canonical_ac": "Q99M28-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Ser80", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "17", "chr_pos": "24639191", "evidence": [ { "id": "rs3389450973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389450973" } ] } ] } ], "record_id": "Q99M28-1" }, { "uniprot_canonical_ac": "Q99N84-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99N84", "url": "https://www.uniprot.org/uniprotkb/Q99N84" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 254, "chemical_mass": 28703.0, "gene_names": "Mrps18b;2400002C15Rik;MRP-S18-2;Mrps18b;S18mt-b", "protein_name": "Small ribosomal subunit protein mS40", "disease": [], "cellular_component": [ { "name": "mitochondrial small ribosomal subunit", "id": "GO:0005763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005763", "evidence": [ { "database": "UniProtKB", "id": "Q99N84", "url": "https://www.uniprot.org/uniprotkb/Q99N84" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99N84", "url": "https://www.uniprot.org/uniprotkb/Q99N84" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99N84", "url": "https://www.uniprot.org/uniprotkb/Q99N84" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q99N84", "url": "https://www.uniprot.org/uniprotkb/Q99N84" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q99N84", "url": "https://www.uniprot.org/uniprotkb/Q99N84" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q99N84", "url": "https://www.uniprot.org/uniprotkb/Q99N84" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q99N84", "url": "https://www.uniprot.org/uniprotkb/Q99N84" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99N84-1", "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": "Q99N84-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ser47", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99N84", "url": "https://www.uniprot.org/uniprotkb/Q99N84" } ] } ] }, { "uniprot_canonical_ac": "Q99N84-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Thr29", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TLC->NLC).", "chr_id": "17", "chr_pos": "36225683", "evidence": [ { "id": "rs3552860839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552860839" } ] } ] } ], "record_id": "Q99N84-1" }, { "uniprot_canonical_ac": "Q99N89-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99N89", "url": "https://www.uniprot.org/uniprotkb/Q99N89" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 183, "chemical_mass": 20203.0, "gene_names": "Mrpl43", "protein_name": "Large ribosomal subunit protein mL43", "disease": [], "cellular_component": [ { "name": "mitochondrial large ribosomal subunit", "id": "GO:0005762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005762", "evidence": [ { "database": "UniProtKB", "id": "Q99N89", "url": "https://www.uniprot.org/uniprotkb/Q99N89" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99N89", "url": "https://www.uniprot.org/uniprotkb/Q99N89" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q99N89", "url": "https://www.uniprot.org/uniprotkb/Q99N89" } ], "pmid": "" } ], "biological_process": [ { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q99N89", "url": "https://www.uniprot.org/uniprotkb/Q99N89" } ], "pmid": "" }, { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q99N89", "url": "https://www.uniprot.org/uniprotkb/Q99N89" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q99N89", "url": "https://www.uniprot.org/uniprotkb/Q99N89" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q99N89-1" }, { "uniprot_canonical_ac": "Q99N91-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99N91", "url": "https://www.uniprot.org/uniprotkb/Q99N91" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 92, "chemical_mass": 10531.0, "gene_names": "Mrpl34;0610007O17Rik;D8Bwg1484e;Mrpl34", "protein_name": "Large ribosomal subunit protein bL34m", "disease": [], "cellular_component": [ { "name": "mitochondrial large ribosomal subunit", "id": "GO:0005762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005762", "evidence": [ { "database": "UniProtKB", "id": "Q99N91", "url": "https://www.uniprot.org/uniprotkb/Q99N91" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99N91", "url": "https://www.uniprot.org/uniprotkb/Q99N91" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q99N91", "url": "https://www.uniprot.org/uniprotkb/Q99N91" } ], "pmid": "" } ], "biological_process": [ { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q99N91", "url": "https://www.uniprot.org/uniprotkb/Q99N91" } ], "pmid": "" }, { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q99N91", "url": "https://www.uniprot.org/uniprotkb/Q99N91" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q99N91", "url": "https://www.uniprot.org/uniprotkb/Q99N91" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99N91-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Ser71", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99N91", "url": "https://www.uniprot.org/uniprotkb/Q99N91" } ] } ] } ], "record_id": "Q99N91-1" }, { "uniprot_canonical_ac": "Q99N94-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99N94", "url": "https://www.uniprot.org/uniprotkb/Q99N94" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 265, "chemical_mass": 30244.0, "gene_names": "Mrpl9;8030480E20Rik;C330013D18Rik;L9mt;Mrpl9", "protein_name": "Large ribosomal subunit protein bL9m", "disease": [], "cellular_component": [ { "name": "mitochondrial large ribosomal subunit", "id": "GO:0005762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005762", "evidence": [ { "database": "UniProtKB", "id": "Q99N94", "url": "https://www.uniprot.org/uniprotkb/Q99N94" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99N94", "url": "https://www.uniprot.org/uniprotkb/Q99N94" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q99N94", "url": "https://www.uniprot.org/uniprotkb/Q99N94" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q99N94", "url": "https://www.uniprot.org/uniprotkb/Q99N94" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q99N94", "url": "https://www.uniprot.org/uniprotkb/Q99N94" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q99N94-1" }, { "uniprot_canonical_ac": "Q9CQE0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 245, "chemical_mass": 28299.0, "gene_names": "Rnf138;2410015A17Rik;2810480D20Rik;Rnf138;STRIN;Trif-d;Trif", "protein_name": "E3 ubiquitin-protein ligase RNF138", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ], "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": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ], "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": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CQE0-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Thr142", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQE0", "url": "https://www.uniprot.org/uniprotkb/Q9CQE0" } ] } ] } ], "record_id": "Q9CQE0-1" }, { "uniprot_canonical_ac": "Q9CQF8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQF8", "url": "https://www.uniprot.org/uniprotkb/Q9CQF8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 102, "chemical_mass": 11952.0, "gene_names": "Mrpl57;2610025P17Rik;Mrp63;Mrpl57", "protein_name": "Large ribosomal subunit protein mL63", "disease": [], "cellular_component": [ { "name": "mitochondrial large ribosomal subunit", "id": "GO:0005762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005762", "evidence": [ { "database": "UniProtKB", "id": "Q9CQF8", "url": "https://www.uniprot.org/uniprotkb/Q9CQF8" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CQF8", "url": "https://www.uniprot.org/uniprotkb/Q9CQF8" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9CQF8", "url": "https://www.uniprot.org/uniprotkb/Q9CQF8" } ], "pmid": "" }, { "name": "mitochondrial ribosome", "id": "GO:0005761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005761", "evidence": [ { "database": "UniProtKB", "id": "Q9CQF8", "url": "https://www.uniprot.org/uniprotkb/Q9CQF8" } ], "pmid": "" } ], "biological_process": [ { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q9CQF8", "url": "https://www.uniprot.org/uniprotkb/Q9CQF8" } ], "pmid": "" }, { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9CQF8", "url": "https://www.uniprot.org/uniprotkb/Q9CQF8" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q9CQF8", "url": "https://www.uniprot.org/uniprotkb/Q9CQF8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CQF8-1" }, { "uniprot_canonical_ac": "Q9CQR2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQR2", "url": "https://www.uniprot.org/uniprotkb/Q9CQR2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 83, "chemical_mass": 9141.0, "gene_names": "Rps21;1810049N11Rik;2410030A14Rik;Rps21", "protein_name": "Small ribosomal subunit protein eS21", "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": "Q9CQR2", "url": "https://www.uniprot.org/uniprotkb/Q9CQR2" } ], "pmid": "" }, { "name": "endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000447", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR2", "url": "https://www.uniprot.org/uniprotkb/Q9CQR2" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR2", "url": "https://www.uniprot.org/uniprotkb/Q9CQR2" } ], "pmid": "" }, { "name": "endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000461", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR2", "url": "https://www.uniprot.org/uniprotkb/Q9CQR2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR2", "url": "https://www.uniprot.org/uniprotkb/Q9CQR2" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR2", "url": "https://www.uniprot.org/uniprotkb/Q9CQR2" } ], "pmid": "" }, { "name": "rough endoplasmic reticulum", "id": "GO:0005791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005791", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR2", "url": "https://www.uniprot.org/uniprotkb/Q9CQR2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR2", "url": "https://www.uniprot.org/uniprotkb/Q9CQR2" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR2", "url": "https://www.uniprot.org/uniprotkb/Q9CQR2" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR2", "url": "https://www.uniprot.org/uniprotkb/Q9CQR2" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR2", "url": "https://www.uniprot.org/uniprotkb/Q9CQR2" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR2", "url": "https://www.uniprot.org/uniprotkb/Q9CQR2" } ], "pmid": "" }, { "name": "cytosolic small ribosomal subunit", "id": "GO:0022627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022627", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR2", "url": "https://www.uniprot.org/uniprotkb/Q9CQR2" } ], "pmid": "" } ], "molecular_function": [ { "name": "ribosome binding", "id": "GO:0043022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043022", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR2", "url": "https://www.uniprot.org/uniprotkb/Q9CQR2" } ], "pmid": "" }, { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q9CQR2", "url": "https://www.uniprot.org/uniprotkb/Q9CQR2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CQR2-1" }, { "uniprot_canonical_ac": "Q9CQV5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQV5", "url": "https://www.uniprot.org/uniprotkb/Q9CQV5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 167, "chemical_mass": 18901.0, "gene_names": "Mrps24;3110030K20Rik;MRP-S24;Mrps24;Rpms24;S24mt", "protein_name": "Small ribosomal subunit protein uS3m", "disease": [], "cellular_component": [ { "name": "mitochondrial small ribosomal subunit", "id": "GO:0005763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005763", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV5", "url": "https://www.uniprot.org/uniprotkb/Q9CQV5" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV5", "url": "https://www.uniprot.org/uniprotkb/Q9CQV5" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV5", "url": "https://www.uniprot.org/uniprotkb/Q9CQV5" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV5", "url": "https://www.uniprot.org/uniprotkb/Q9CQV5" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9CQV5", "url": "https://www.uniprot.org/uniprotkb/Q9CQV5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CQV5-1" }, { "uniprot_canonical_ac": "Q9CSH3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 958, "chemical_mass": 108838.0, "gene_names": "Dis3;2810028N01Rik;Dis3;Kiaa1008;Rrp44", "protein_name": "Exosome complex exonuclease RRP44", "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 }, { "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 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" }, { "name": "endonuclease activity", "id": "GO:0004519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004519", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" }, { "name": "3'-5'-RNA exonuclease activity", "id": "GO:0000175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000175", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" }, { "name": "nuclear exosome (RNase complex)", "id": "GO:0000176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000176", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" }, { "name": "cytoplasmic exosome (RNase complex)", "id": "GO:0000177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000177", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" } ], "biological_process": [ { "name": "RNA processing", "id": "GO:0006396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006396", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" }, { "name": "rRNA catabolic process", "id": "GO:0016075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016075", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" }, { "name": "RNA catabolic process", "id": "GO:0006401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006401", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" }, { "name": "CUT catabolic process", "id": "GO:0071034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071034", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" }, { "name": "nuclear mRNA surveillance of mRNA 3'-end processing", "id": "GO:0071031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071031", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process", "id": "GO:0000956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000956", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CSH3-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Ser200", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 200, "start_aa": "Ser", "end_pos": 200, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser200", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9CSH3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9CSH3" } ] } ] }, { "uniprot_canonical_ac": "Q9CSH3-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Ser215", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSH3", "url": "https://www.uniprot.org/uniprotkb/Q9CSH3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CSH3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CSH3" } ] } ] }, { "uniprot_canonical_ac": "Q9CSH3-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Arg147", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDR->NDS).", "chr_id": "14", "chr_pos": "99335160", "evidence": [ { "id": "rs3389308783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389308783" } ] } ] }, { "uniprot_canonical_ac": "Q9CSH3-1", "start_pos": "910", "end_pos": "910", "site_lbl": "Lys910", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KIT->NIT).", "chr_id": "14", "chr_pos": "99315761", "evidence": [ { "id": "rs3389345209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389345209" } ] } ] }, { "uniprot_canonical_ac": "Q9CSH3-1", "start_pos": "938", "end_pos": "938", "site_lbl": "Pro938", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIP->NIS).", "chr_id": "14", "chr_pos": "99314883", "evidence": [ { "id": "rs223990697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223990697" } ] } ] } ], "record_id": "Q9CSH3-1" }, { "uniprot_canonical_ac": "Q9CXW2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CXW2", "url": "https://www.uniprot.org/uniprotkb/Q9CXW2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 359, "chemical_mass": 41192.0, "gene_names": "Mrps22;3100002P07Rik;Mrps22;Rpms22", "protein_name": "Small ribosomal subunit protein mS22", "disease": [ { "disease_id": "DOID:0080499", "name": "ovarian dysgenesis 7", "description": "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23.", "url": "https://disease-ontology.org/term/DOID:0080499", "evidence": [ { "id": "0080499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080499" } ], "weight": 0.0 }, { "disease_id": "DOID:0111473", "name": "combined oxidative phosphorylation deficiency 5", "description": "A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23.", "url": "https://disease-ontology.org/term/DOID:0111473", "evidence": [ { "id": "0111473", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111473" } ], "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": "mitochondrial small ribosomal subunit", "id": "GO:0005763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005763", "evidence": [ { "database": "UniProtKB", "id": "Q9CXW2", "url": "https://www.uniprot.org/uniprotkb/Q9CXW2" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CXW2", "url": "https://www.uniprot.org/uniprotkb/Q9CXW2" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9CXW2", "url": "https://www.uniprot.org/uniprotkb/Q9CXW2" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q9CXW2", "url": "https://www.uniprot.org/uniprotkb/Q9CXW2" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9CXW2", "url": "https://www.uniprot.org/uniprotkb/Q9CXW2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CXW2-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Ser54", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CXW2", "url": "https://www.uniprot.org/uniprotkb/Q9CXW2" } ] } ] } ], "record_id": "Q9CXW2-1" }, { "uniprot_canonical_ac": "Q9CYX7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CYX7", "url": "https://www.uniprot.org/uniprotkb/Q9CYX7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 281, "chemical_mass": 31058.0, "gene_names": "Rrp15;2810430M08Rik;5430437H21Rik;Rrp15", "protein_name": "RRP15-like protein", "disease": [], "cellular_component": [ { "name": "preribosome, large subunit precursor", "id": "GO:0030687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030687", "evidence": [ { "database": "UniProtKB", "id": "Q9CYX7", "url": "https://www.uniprot.org/uniprotkb/Q9CYX7" } ], "pmid": "" } ], "biological_process": [ { "name": "maturation of 5.8S rRNA", "id": "GO:0000460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000460", "evidence": [ { "database": "UniProtKB", "id": "Q9CYX7", "url": "https://www.uniprot.org/uniprotkb/Q9CYX7" } ], "pmid": "" }, { "name": "maturation of LSU-rRNA", "id": "GO:0000470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000470", "evidence": [ { "database": "UniProtKB", "id": "Q9CYX7", "url": "https://www.uniprot.org/uniprotkb/Q9CYX7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CYX7-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Thr104", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CYX7", "url": "https://www.uniprot.org/uniprotkb/Q9CYX7" } ] } ] }, { "uniprot_canonical_ac": "Q9CYX7-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CYX7", "url": "https://www.uniprot.org/uniprotkb/Q9CYX7" } ] } ] }, { "uniprot_canonical_ac": "Q9CYX7-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Ser206", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CYX7", "url": "https://www.uniprot.org/uniprotkb/Q9CYX7" } ] } ] }, { "uniprot_canonical_ac": "Q9CYX7-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Ser265", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CYX7", "url": "https://www.uniprot.org/uniprotkb/Q9CYX7" }, { "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": "Q9CYX7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CYX7" } ] } ] }, { "uniprot_canonical_ac": "Q9CYX7-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ser58", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CYX7", "url": "https://www.uniprot.org/uniprotkb/Q9CYX7" } ] } ] }, { "uniprot_canonical_ac": "Q9CYX7-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Ser67", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CYX7", "url": "https://www.uniprot.org/uniprotkb/Q9CYX7" } ] } ] } ], "record_id": "Q9CYX7-1" }, { "uniprot_canonical_ac": "Q9CZT4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CZT4", "url": "https://www.uniprot.org/uniprotkb/Q9CZT4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 710, "chemical_mass": 79854.0, "gene_names": "Polr3e;Polr3e;RPC5;Sin", "protein_name": "DNA-directed RNA polymerase III subunit RPC5", "disease": [ { "disease_id": "DOID:0060399", "name": "chromosome 16p12.1 deletion syndrome", "description": "A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects.", "url": "https://disease-ontology.org/term/DOID:0060399", "evidence": [ { "id": "0060399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060399" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CZT4", "url": "https://www.uniprot.org/uniprotkb/Q9CZT4" } ], "pmid": "" }, { "name": "RNA polymerase III complex", "id": "GO:0005666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005666", "evidence": [ { "database": "UniProtKB", "id": "Q9CZT4", "url": "https://www.uniprot.org/uniprotkb/Q9CZT4" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9CZT4", "url": "https://www.uniprot.org/uniprotkb/Q9CZT4" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q9CZT4", "url": "https://www.uniprot.org/uniprotkb/Q9CZT4" } ], "pmid": "" }, { "name": "transcription by RNA polymerase III", "id": "GO:0006383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006383", "evidence": [ { "database": "UniProtKB", "id": "Q9CZT4", "url": "https://www.uniprot.org/uniprotkb/Q9CZT4" } ], "pmid": "" }, { "name": "termination of RNA polymerase III transcription", "id": "GO:0006386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006386", "evidence": [ { "database": "UniProtKB", "id": "Q9CZT4", "url": "https://www.uniprot.org/uniprotkb/Q9CZT4" } ], "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": "Q9CZT4", "url": "https://www.uniprot.org/uniprotkb/Q9CZT4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CZT4-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Ser161", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZT4", "url": "https://www.uniprot.org/uniprotkb/Q9CZT4" }, { "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": "Q9CZT4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZT4" } ] } ] }, { "uniprot_canonical_ac": "Q9CZT4-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Ser162", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZT4", "url": "https://www.uniprot.org/uniprotkb/Q9CZT4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CZT4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZT4" } ] } ] }, { "uniprot_canonical_ac": "Q9CZT4-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Ser192", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZT4", "url": "https://www.uniprot.org/uniprotkb/Q9CZT4" } ] } ] }, { "uniprot_canonical_ac": "Q9CZT4-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Tyr224", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZT4", "url": "https://www.uniprot.org/uniprotkb/Q9CZT4" } ] } ] }, { "uniprot_canonical_ac": "Q9CZT4-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Ser503", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZT4", "url": "https://www.uniprot.org/uniprotkb/Q9CZT4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CZT4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZT4" } ] } ] } ], "record_id": "Q9CZT4-1" }, { "uniprot_canonical_ac": "Q9D1I6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D1I6", "url": "https://www.uniprot.org/uniprotkb/Q9D1I6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 145, "chemical_mass": 15874.0, "gene_names": "Mrpl14;1110006I11Rik;MRP-L32;Mrpl14;Rpml32", "protein_name": "Large ribosomal subunit protein uL14m", "disease": [], "cellular_component": [ { "name": "mitochondrial large ribosomal subunit", "id": "GO:0005762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005762", "evidence": [ { "database": "UniProtKB", "id": "Q9D1I6", "url": "https://www.uniprot.org/uniprotkb/Q9D1I6" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9D1I6", "url": "https://www.uniprot.org/uniprotkb/Q9D1I6" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9D1I6", "url": "https://www.uniprot.org/uniprotkb/Q9D1I6" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q9D1I6", "url": "https://www.uniprot.org/uniprotkb/Q9D1I6" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9D1I6", "url": "https://www.uniprot.org/uniprotkb/Q9D1I6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D1I6-1" }, { "uniprot_canonical_ac": "Q9D2R8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D2R8", "url": "https://www.uniprot.org/uniprotkb/Q9D2R8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 106, "chemical_mass": 12459.0, "gene_names": "Mrps33;CGI-139;Gdap3;MRP-S33;Mrps33;PTD003", "protein_name": "Small ribosomal subunit protein mS33", "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": "mitochondrial small ribosomal subunit", "id": "GO:0005763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005763", "evidence": [ { "database": "UniProtKB", "id": "Q9D2R8", "url": "https://www.uniprot.org/uniprotkb/Q9D2R8" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9D2R8", "url": "https://www.uniprot.org/uniprotkb/Q9D2R8" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9D2R8", "url": "https://www.uniprot.org/uniprotkb/Q9D2R8" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9D2R8", "url": "https://www.uniprot.org/uniprotkb/Q9D2R8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D2R8-1" }, { "uniprot_canonical_ac": "Q9D9R0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D9R0", "url": "https://www.uniprot.org/uniprotkb/Q9D9R0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 233, "chemical_mass": 26362.0, "gene_names": "Rnf125;4930553F04Rik;C730049O14Rik;Rnf125", "protein_name": "E3 ubiquitin-protein ligase RNF125", "disease": [], "cellular_component": [ { "name": "VCP-NPL4-UFD1 AAA ATPase complex", "id": "GO:0034098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034098", "evidence": [ { "database": "UniProtKB", "id": "Q9D9R0", "url": "https://www.uniprot.org/uniprotkb/Q9D9R0" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9D9R0", "url": "https://www.uniprot.org/uniprotkb/Q9D9R0" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9D9R0", "url": "https://www.uniprot.org/uniprotkb/Q9D9R0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9D9R0", "url": "https://www.uniprot.org/uniprotkb/Q9D9R0" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "Q9D9R0", "url": "https://www.uniprot.org/uniprotkb/Q9D9R0" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9D9R0", "url": "https://www.uniprot.org/uniprotkb/Q9D9R0" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9D9R0", "url": "https://www.uniprot.org/uniprotkb/Q9D9R0" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme binding", "id": "GO:0031624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031624", "evidence": [ { "database": "UniProtKB", "id": "Q9D9R0", "url": "https://www.uniprot.org/uniprotkb/Q9D9R0" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q9D9R0", "url": "https://www.uniprot.org/uniprotkb/Q9D9R0" } ], "pmid": "" }, { "name": "p53 binding", "id": "GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "Q9D9R0", "url": "https://www.uniprot.org/uniprotkb/Q9D9R0" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "Q9D9R0", "url": "https://www.uniprot.org/uniprotkb/Q9D9R0" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q9D9R0", "url": "https://www.uniprot.org/uniprotkb/Q9D9R0" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q9D9R0", "url": "https://www.uniprot.org/uniprotkb/Q9D9R0" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q9D9R0", "url": "https://www.uniprot.org/uniprotkb/Q9D9R0" } ], "pmid": "" }, { "name": "negative regulation of RIG-I signaling pathway", "id": "GO:0039536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039536", "evidence": [ { "database": "UniProtKB", "id": "Q9D9R0", "url": "https://www.uniprot.org/uniprotkb/Q9D9R0" } ], "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": "Q9D9R0", "url": "https://www.uniprot.org/uniprotkb/Q9D9R0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D9R0-1" }, { "uniprot_canonical_ac": "Q9DA80-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DA80", "url": "https://www.uniprot.org/uniprotkb/Q9DA80" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 389, "chemical_mass": 45168.0, "gene_names": "Rsph3b;Rshl2b;Rshl2;Rsph3b", "protein_name": "Radial spoke head protein 3 homolog B", "disease": [ { "disease_id": "DOID:0110603", "name": "primary ciliary dyskinesia 32", "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25.", "url": "https://disease-ontology.org/term/DOID:0110603", "evidence": [ { "id": "0110603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110603" } ], "weight": 0.0 } ], "biological_process": [ { "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": "Q9DA80", "url": "https://www.uniprot.org/uniprotkb/Q9DA80" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q9DA80", "url": "https://www.uniprot.org/uniprotkb/Q9DA80" } ], "pmid": "" }, { "name": "cilium movement", "id": "GO:0003341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003341", "evidence": [ { "database": "UniProtKB", "id": "Q9DA80", "url": "https://www.uniprot.org/uniprotkb/Q9DA80" } ], "pmid": "" }, { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "Q9DA80", "url": "https://www.uniprot.org/uniprotkb/Q9DA80" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9DA80", "url": "https://www.uniprot.org/uniprotkb/Q9DA80" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9DA80", "url": "https://www.uniprot.org/uniprotkb/Q9DA80" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q9DA80", "url": "https://www.uniprot.org/uniprotkb/Q9DA80" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q9DA80", "url": "https://www.uniprot.org/uniprotkb/Q9DA80" } ], "pmid": "" }, { "name": "9+2 motile cilium", "id": "GO:0097729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097729", "evidence": [ { "database": "UniProtKB", "id": "Q9DA80", "url": "https://www.uniprot.org/uniprotkb/Q9DA80" } ], "pmid": "" }, { "name": "radial spoke head", "id": "GO:0001535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001535", "evidence": [ { "database": "UniProtKB", "id": "Q9DA80", "url": "https://www.uniprot.org/uniprotkb/Q9DA80" } ], "pmid": "" }, { "name": "radial spoke head 1", "id": "GO:0120336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120336", "evidence": [ { "database": "UniProtKB", "id": "Q9DA80", "url": "https://www.uniprot.org/uniprotkb/Q9DA80" } ], "pmid": "" }, { "name": "radial spoke head 3", "id": "GO:0120338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120338", "evidence": [ { "database": "UniProtKB", "id": "Q9DA80", "url": "https://www.uniprot.org/uniprotkb/Q9DA80" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DA80-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Thr143", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DA80", "url": "https://www.uniprot.org/uniprotkb/Q9DA80" } ] } ] } ], "record_id": "Q9DA80-1" }, { "uniprot_canonical_ac": "Q9ES88-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ES88", "url": "https://www.uniprot.org/uniprotkb/Q9ES88" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 586, "chemical_mass": 64111.0, "gene_names": "Slc13a2;Nadc-1;Nadc1;Sdct1;Slc13a2;mNaDC-1", "protein_name": "Solute carrier family 13 member 2", "disease": [ { "disease_id": "DOID:0050667", "name": "alcohol-related neurodevelopmental disorder", "description": "A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure.", "url": "https://disease-ontology.org/term/DOID:0050667", "evidence": [ { "id": "0050667", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050667" } ], "weight": 0.0 }, { "disease_id": "DOID:0111668", "name": "Kohlschutter-Tonz syndrome", "description": "A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3.", "url": "https://disease-ontology.org/term/DOID:0111668", "evidence": [ { "id": "0111668", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111668" } ], "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 } ], "molecular_function": [ { "name": "alpha-ketoglutarate transmembrane transporter activity", "id": "GO:0015139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015139", "evidence": [ { "database": "UniProtKB", "id": "Q9ES88", "url": "https://www.uniprot.org/uniprotkb/Q9ES88" } ], "pmid": "" }, { "name": "sodium:dicarboxylate symporter activity", "id": "GO:0017153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017153", "evidence": [ { "database": "UniProtKB", "id": "Q9ES88", "url": "https://www.uniprot.org/uniprotkb/Q9ES88" } ], "pmid": "" }, { "name": "succinate transmembrane transporter activity", "id": "GO:0015141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015141", "evidence": [ { "database": "UniProtKB", "id": "Q9ES88", "url": "https://www.uniprot.org/uniprotkb/Q9ES88" } ], "pmid": "" }, { "name": "fumarate transmembrane transporter activity", "id": "GO:0015138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015138", "evidence": [ { "database": "UniProtKB", "id": "Q9ES88", "url": "https://www.uniprot.org/uniprotkb/Q9ES88" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9ES88", "url": "https://www.uniprot.org/uniprotkb/Q9ES88" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9ES88", "url": "https://www.uniprot.org/uniprotkb/Q9ES88" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to lithium ion", "id": "GO:0071285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071285", "evidence": [ { "database": "UniProtKB", "id": "Q9ES88", "url": "https://www.uniprot.org/uniprotkb/Q9ES88" } ], "pmid": "" }, { "name": "alpha-ketoglutarate transport", "id": "GO:0015742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015742", "evidence": [ { "database": "UniProtKB", "id": "Q9ES88", "url": "https://www.uniprot.org/uniprotkb/Q9ES88" } ], "pmid": "" }, { "name": "succinate transmembrane transport", "id": "GO:0071422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071422", "evidence": [ { "database": "UniProtKB", "id": "Q9ES88", "url": "https://www.uniprot.org/uniprotkb/Q9ES88" } ], "pmid": "" }, { "name": "fumarate transport", "id": "GO:0015741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015741", "evidence": [ { "database": "UniProtKB", "id": "Q9ES88", "url": "https://www.uniprot.org/uniprotkb/Q9ES88" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9ES88-1" }, { "uniprot_canonical_ac": "Q9JJ80-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JJ80", "url": "https://www.uniprot.org/uniprotkb/Q9JJ80" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 306, "chemical_mass": 35364.0, "gene_names": "Rpf2;2810470K21Rik;Bxdc1;MNCb-4285;Rpf2", "protein_name": "Ribosome production factor 2 homolog", "disease": [], "biological_process": [ { "name": "protein localization to nucleolus", "id": "GO:1902570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902570", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ80", "url": "https://www.uniprot.org/uniprotkb/Q9JJ80" } ], "pmid": "" }, { "name": "ribosomal large subunit biogenesis", "id": "GO:0042273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042273", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ80", "url": "https://www.uniprot.org/uniprotkb/Q9JJ80" } ], "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": "Q9JJ80", "url": "https://www.uniprot.org/uniprotkb/Q9JJ80" } ], "pmid": "" }, { "name": "ribosomal large subunit assembly", "id": "GO:0000027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000027", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ80", "url": "https://www.uniprot.org/uniprotkb/Q9JJ80" } ], "pmid": "" }, { "name": "maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000463", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ80", "url": "https://www.uniprot.org/uniprotkb/Q9JJ80" } ], "pmid": "" }, { "name": "maturation of LSU-rRNA", "id": "GO:0000470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000470", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ80", "url": "https://www.uniprot.org/uniprotkb/Q9JJ80" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ80", "url": "https://www.uniprot.org/uniprotkb/Q9JJ80" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ80", "url": "https://www.uniprot.org/uniprotkb/Q9JJ80" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ80", "url": "https://www.uniprot.org/uniprotkb/Q9JJ80" } ], "pmid": "" } ], "molecular_function": [ { "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": "Q9JJ80", "url": "https://www.uniprot.org/uniprotkb/Q9JJ80" } ], "pmid": "" }, { "name": "rRNA binding", "id": "GO:0019843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019843", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ80", "url": "https://www.uniprot.org/uniprotkb/Q9JJ80" } ], "pmid": "" }, { "name": "5S rRNA binding", "id": "GO:0008097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008097", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ80", "url": "https://www.uniprot.org/uniprotkb/Q9JJ80" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9JJ80-1" }, { "uniprot_canonical_ac": "Q3UQA7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UQA7", "url": "https://www.uniprot.org/uniprotkb/Q3UQA7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 116, "chemical_mass": 12974.0, "gene_names": "Selenoh;2700094K13Rik;Selenoh;Selh", "protein_name": "Selenoprotein H", "disease": [ { "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: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 } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q3UQA7", "url": "https://www.uniprot.org/uniprotkb/Q3UQA7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3UQA7-1" }, { "uniprot_canonical_ac": "Q8R139-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 528, "chemical_mass": 58099.0, "gene_names": "Slc29a4;ENT4;Ent4;PMAT;Slc29a4;mENT4;mPMAT;pmat", "protein_name": "Equilibrative nucleoside transporter 4", "disease": [], "molecular_function": [ { "name": "neurotransmitter transmembrane transporter activity", "id": "GO:0005326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005326", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "xenobiotic transmembrane transporter activity", "id": "GO:0042910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042910", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "monoatomic cation transmembrane transporter activity", "id": "GO:0008324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008324", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "efflux transmembrane transporter activity", "id": "GO:0015562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015562", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "nucleoside transmembrane transporter activity", "id": "GO:0005337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005337", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "monoamine transmembrane transporter activity", "id": "GO:0008504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008504", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" } ], "biological_process": [ { "name": "monoamine transport", "id": "GO:0015844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015844", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "organic cation transport", "id": "GO:0015695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015695", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "monoatomic cation transmembrane transport", "id": "GO:0098655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098655", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "dopamine transport", "id": "GO:0015872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015872", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "norepinephrine transport", "id": "GO:0015874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015874", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "histamine uptake", "id": "GO:0051615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051615", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "dopamine uptake", "id": "GO:0090494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090494", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "serotonin transport", "id": "GO:0006837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006837", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "serotonin uptake", "id": "GO:0051610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051610", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "epinephrine transport", "id": "GO:0048241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048241", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "histamine transport", "id": "GO:0051608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051608", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "xenobiotic transport", "id": "GO:0042908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "neurotransmitter transport", "id": "GO:0006836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006836", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "export across plasma membrane", "id": "GO:0140115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140115", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "cellular detoxification", "id": "GO:1990748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990748", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "norepinephrine uptake", "id": "GO:0051620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051620", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "epinephrine uptake", "id": "GO:0051625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051625", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "adenosine transport", "id": "GO:0032238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032238", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q8R139", "url": "https://www.uniprot.org/uniprotkb/Q8R139" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R139-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Asn521", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "Q8R139", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R139#ptm_processing" }, { "id": "16873718", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16873718" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDS->IDS).", "chr_id": "5", "chr_pos": "142707220", "evidence": [ { "id": "rs3388811807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388811807" } ] }, { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDS->TDS).", "chr_id": "5", "chr_pos": "142707220", "evidence": [ { "id": "rs3388811807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388811807" } ] } ] } ], "record_id": "Q8R139-1" }, { "uniprot_canonical_ac": "Q8K3D6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K3D6", "url": "https://www.uniprot.org/uniprotkb/Q8K3D6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 351, "chemical_mass": 37253.0, "gene_names": "Slc35e4;A330108F03Rik;Slc35e4", "protein_name": "Solute carrier family 35 member E4", "disease": [], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8K3D6", "url": "https://www.uniprot.org/uniprotkb/Q8K3D6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8K3D6", "url": "https://www.uniprot.org/uniprotkb/Q8K3D6" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q8K3D6", "url": "https://www.uniprot.org/uniprotkb/Q8K3D6" } ], "pmid": "" } ], "molecular_function": [ { "name": "antiporter activity", "id": "GO:0015297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "database": "UniProtKB", "id": "Q8K3D6", "url": "https://www.uniprot.org/uniprotkb/Q8K3D6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8K3D6-1" }, { "uniprot_canonical_ac": "Q14B98-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q14B98", "url": "https://www.uniprot.org/uniprotkb/Q14B98" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 259, "chemical_mass": 28707.0, "gene_names": "Pheta2;C920005C14Rik;Fam109b;IPIP27B;Pheta2;Ses2", "protein_name": "Sesquipedalian-2", "disease": [], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q14B98", "url": "https://www.uniprot.org/uniprotkb/Q14B98" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q14B98", "url": "https://www.uniprot.org/uniprotkb/Q14B98" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q14B98", "url": "https://www.uniprot.org/uniprotkb/Q14B98" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "Q14B98", "url": "https://www.uniprot.org/uniprotkb/Q14B98" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q14B98", "url": "https://www.uniprot.org/uniprotkb/Q14B98" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q14B98", "url": "https://www.uniprot.org/uniprotkb/Q14B98" } ], "pmid": "" } ], "biological_process": [ { "name": "endosome organization", "id": "GO:0007032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007032", "evidence": [ { "database": "UniProtKB", "id": "Q14B98", "url": "https://www.uniprot.org/uniprotkb/Q14B98" } ], "pmid": "" }, { "name": "receptor recycling", "id": "GO:0001881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001881", "evidence": [ { "database": "UniProtKB", "id": "Q14B98", "url": "https://www.uniprot.org/uniprotkb/Q14B98" } ], "pmid": "" }, { "name": "retrograde transport, endosome to Golgi", "id": "GO:0042147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042147", "evidence": [ { "database": "UniProtKB", "id": "Q14B98", "url": "https://www.uniprot.org/uniprotkb/Q14B98" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q14B98-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Thr35", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 35, "start_aa": "Thr", "end_pos": 35, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr35", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q14B98-1" }, { "uniprot_canonical_ac": "Q8BQB6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BQB6", "url": "https://www.uniprot.org/uniprotkb/Q8BQB6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 394, "chemical_mass": 45533.0, "gene_names": "Saxo2;1700129I04Rik;D030069K18;Fam154b;Saxo2", "protein_name": "Stabilizer of axonemal microtubules 2", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BQB6", "url": "https://www.uniprot.org/uniprotkb/Q8BQB6" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8BQB6", "url": "https://www.uniprot.org/uniprotkb/Q8BQB6" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q8BQB6", "url": "https://www.uniprot.org/uniprotkb/Q8BQB6" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q8BQB6", "url": "https://www.uniprot.org/uniprotkb/Q8BQB6" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8BQB6", "url": "https://www.uniprot.org/uniprotkb/Q8BQB6" } ], "pmid": "" }, { "name": "axonemal microtubule", "id": "GO:0005879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005879", "evidence": [ { "database": "UniProtKB", "id": "Q8BQB6", "url": "https://www.uniprot.org/uniprotkb/Q8BQB6" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q8BQB6", "url": "https://www.uniprot.org/uniprotkb/Q8BQB6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BQB6-1" }, { "uniprot_canonical_ac": "Q08535-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 133, "chemical_mass": 14914.0, "gene_names": "Sct;Sct", "protein_name": "Secretin", "disease": [], "biological_process": [ { "name": "positive regulation of somatostatin secretion", "id": "GO:0090274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090274", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "pmid": "" }, { "name": "negative regulation of gastrin-induced gastric acid secretion", "id": "GO:1903640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903640", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "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": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "pmid": "" }, { "name": "regulation of appetite", "id": "GO:0032098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032098", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "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": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "pmid": "" }, { "name": "diet induced thermogenesis", "id": "GO:0002024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002024", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "pmid": "" }, { "name": "intracellular water homeostasis", "id": "GO:0009992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009992", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "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": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "pmid": "" }, { "name": "neuronal stem cell population maintenance", "id": "GO:0097150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097150", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "pmid": "" }, { "name": "dentate gyrus development", "id": "GO:0021542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021542", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "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": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "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": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "pmid": "" }, { "name": "digestive hormone activity", "id": "GO:0046659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046659", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q08535-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Thr7", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 7, "start_aa": "Thr", "end_pos": 7, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr7", "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": "7", "chr_pos": "140858992", "evidence": [ { "id": "rs242974594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242974594" } ] }, { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->M).", "chr_id": "7", "chr_pos": "140858992", "evidence": [ { "id": "rs242974594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242974594" } ] } ] }, { "uniprot_canonical_ac": "Q08535-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Ser62", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q08535", "url": "https://www.uniprot.org/uniprotkb/Q08535" } ] } ] } ], "record_id": "Q08535-1" }, { "uniprot_canonical_ac": "P04918-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P04918", "url": "https://www.uniprot.org/uniprotkb/P04918" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 122, "chemical_mass": 13774.0, "gene_names": "Saa3;Saa-3;Saa3;l7R3", "protein_name": "Serum amyloid A-3 protein", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P04918", "url": "https://www.uniprot.org/uniprotkb/P04918" } ], "pmid": "" }, { "name": "high-density lipoprotein particle", "id": "GO:0034364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034364", "evidence": [ { "database": "UniProtKB", "id": "P04918", "url": "https://www.uniprot.org/uniprotkb/P04918" } ], "pmid": "" }, { "name": "cytoplasmic microtubule", "id": "GO:0005881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005881", "evidence": [ { "database": "UniProtKB", "id": "P04918", "url": "https://www.uniprot.org/uniprotkb/P04918" } ], "pmid": "" } ], "molecular_function": [ { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "P04918", "url": "https://www.uniprot.org/uniprotkb/P04918" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "P04918", "url": "https://www.uniprot.org/uniprotkb/P04918" } ], "pmid": "" }, { "name": "Toll-like receptor 4 binding", "id": "GO:0035662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035662", "evidence": [ { "database": "UniProtKB", "id": "P04918", "url": "https://www.uniprot.org/uniprotkb/P04918" } ], "pmid": "" } ], "biological_process": [ { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "P04918", "url": "https://www.uniprot.org/uniprotkb/P04918" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P04918", "url": "https://www.uniprot.org/uniprotkb/P04918" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P04918", "url": "https://www.uniprot.org/uniprotkb/P04918" } ], "pmid": "" }, { "name": "response to stilbenoid", "id": "GO:0035634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035634", "evidence": [ { "database": "UniProtKB", "id": "P04918", "url": "https://www.uniprot.org/uniprotkb/P04918" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "P04918", "url": "https://www.uniprot.org/uniprotkb/P04918" } ], "pmid": "" }, { "name": "I-kappaB phosphorylation", "id": "GO:0007252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007252", "evidence": [ { "database": "UniProtKB", "id": "P04918", "url": "https://www.uniprot.org/uniprotkb/P04918" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P04918-1" }, { "uniprot_canonical_ac": "Q8BWH0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BWH0", "url": "https://www.uniprot.org/uniprotkb/Q8BWH0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 463, "chemical_mass": 49913.0, "gene_names": "Slc38a7;D430050E18;Slc38a7;Snat7", "protein_name": "Sodium-coupled neutral amino acid transporter 7", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BWH0", "url": "https://www.uniprot.org/uniprotkb/Q8BWH0" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q8BWH0", "url": "https://www.uniprot.org/uniprotkb/Q8BWH0" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q8BWH0", "url": "https://www.uniprot.org/uniprotkb/Q8BWH0" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q8BWH0", "url": "https://www.uniprot.org/uniprotkb/Q8BWH0" } ], "pmid": "" } ], "biological_process": [ { "name": "glutamine transport", "id": "GO:0006868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006868", "evidence": [ { "database": "UniProtKB", "id": "Q8BWH0", "url": "https://www.uniprot.org/uniprotkb/Q8BWH0" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "Q8BWH0", "url": "https://www.uniprot.org/uniprotkb/Q8BWH0" } ], "pmid": "" }, { "name": "amino acid transmembrane transport", "id": "GO:0003333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003333", "evidence": [ { "database": "UniProtKB", "id": "Q8BWH0", "url": "https://www.uniprot.org/uniprotkb/Q8BWH0" } ], "pmid": "" }, { "name": "asparagine transport", "id": "GO:0006867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006867", "evidence": [ { "database": "UniProtKB", "id": "Q8BWH0", "url": "https://www.uniprot.org/uniprotkb/Q8BWH0" } ], "pmid": "" }, { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "Q8BWH0", "url": "https://www.uniprot.org/uniprotkb/Q8BWH0" } ], "pmid": "" } ], "molecular_function": [ { "name": "L-glutamine transmembrane transporter activity", "id": "GO:0015186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015186", "evidence": [ { "database": "UniProtKB", "id": "Q8BWH0", "url": "https://www.uniprot.org/uniprotkb/Q8BWH0" } ], "pmid": "" }, { "name": "L-asparagine transmembrane transporter activity", "id": "GO:0015182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015182", "evidence": [ { "database": "UniProtKB", "id": "Q8BWH0", "url": "https://www.uniprot.org/uniprotkb/Q8BWH0" } ], "pmid": "" }, { "name": "L-asparagine:sodium symporter activity", "id": "GO:0140901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140901", "evidence": [ { "database": "UniProtKB", "id": "Q8BWH0", "url": "https://www.uniprot.org/uniprotkb/Q8BWH0" } ], "pmid": "" }, { "name": "L-glutamine:sodium symporter activity", "id": "GO:0140902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140902", "evidence": [ { "database": "UniProtKB", "id": "Q8BWH0", "url": "https://www.uniprot.org/uniprotkb/Q8BWH0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BWH0-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Ser28", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BWH0", "url": "https://www.uniprot.org/uniprotkb/Q8BWH0" } ] } ] } ], "record_id": "Q8BWH0-1" }, { "uniprot_canonical_ac": "Q5NCM1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5NCM1", "url": "https://www.uniprot.org/uniprotkb/Q5NCM1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 492, "chemical_mass": 53668.0, "gene_names": "Slc17a4;9130214H05Rik;Slc17a4", "protein_name": "Probable small intestine urate exporter", "disease": [], "molecular_function": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q5NCM1", "url": "https://www.uniprot.org/uniprotkb/Q5NCM1" } ], "pmid": "" }, { "name": "symporter activity", "id": "GO:0015293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015293", "evidence": [ { "database": "UniProtKB", "id": "Q5NCM1", "url": "https://www.uniprot.org/uniprotkb/Q5NCM1" } ], "pmid": "" }, { "name": "thyroid hormone transmembrane transporter activity", "id": "GO:0015349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015349", "evidence": [ { "database": "UniProtKB", "id": "Q5NCM1", "url": "https://www.uniprot.org/uniprotkb/Q5NCM1" } ], "pmid": "" }, { "name": "urate transmembrane transporter activity", "id": "GO:0015143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015143", "evidence": [ { "database": "UniProtKB", "id": "Q5NCM1", "url": "https://www.uniprot.org/uniprotkb/Q5NCM1" } ], "pmid": "" } ], "cellular_component": [ { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q5NCM1", "url": "https://www.uniprot.org/uniprotkb/Q5NCM1" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "Q5NCM1", "url": "https://www.uniprot.org/uniprotkb/Q5NCM1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q5NCM1", "url": "https://www.uniprot.org/uniprotkb/Q5NCM1" } ], "pmid": "" } ], "biological_process": [ { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "Q5NCM1", "url": "https://www.uniprot.org/uniprotkb/Q5NCM1" } ], "pmid": "" }, { "name": "sodium-dependent phosphate transport", "id": "GO:0044341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044341", "evidence": [ { "database": "UniProtKB", "id": "Q5NCM1", "url": "https://www.uniprot.org/uniprotkb/Q5NCM1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5NCM1-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Asn18", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 18, "start_aa": "Asn", "end_pos": 18, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn18", "evidence": [ { "id": "Q5NCM1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5NCM1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q5NCM1-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Thr440", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 440, "start_aa": "Thr", "end_pos": 440, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr440", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5NCM1-1", "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": "Q5NCM1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5NCM1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q5NCM1-1", "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": "Q5NCM1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5NCM1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q5NCM1-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Asn63", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q5NCM1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5NCM1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q5NCM1-1", "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": "Q5NCM1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5NCM1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q5NCM1-1", "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": "Q5NCM1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5NCM1#ptm_processing" } ] } ] } ], "record_id": "Q5NCM1-1" }, { "uniprot_canonical_ac": "Q3TMH2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3TMH2", "url": "https://www.uniprot.org/uniprotkb/Q3TMH2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 418, "chemical_mass": 47661.0, "gene_names": "Scrn3;4833415E20Rik;Scrn3;Ses3", "protein_name": "Secernin-3", "disease": [], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q3TMH2", "url": "https://www.uniprot.org/uniprotkb/Q3TMH2" } ], "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": "Q3TMH2", "url": "https://www.uniprot.org/uniprotkb/Q3TMH2" } ], "pmid": "" } ], "molecular_function": [ { "name": "dipeptidase activity", "id": "GO:0016805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016805", "evidence": [ { "database": "UniProtKB", "id": "Q3TMH2", "url": "https://www.uniprot.org/uniprotkb/Q3TMH2" } ], "pmid": "" }, { "name": "cysteine-type exopeptidase activity", "id": "GO:0070004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070004", "evidence": [ { "database": "UniProtKB", "id": "Q3TMH2", "url": "https://www.uniprot.org/uniprotkb/Q3TMH2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3TMH2-1", "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": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "Q3TMH2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3TMH2" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ] }, { "uniprot_canonical_ac": "Q3TMH2-1", "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": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "Q3TMH2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3TMH2" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ] }, { "uniprot_canonical_ac": "Q3TMH2-1", "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": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "Q3TMH2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3TMH2" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ] }, { "uniprot_canonical_ac": "Q3TMH2-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Ala144", "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": "73149735", "evidence": [ { "id": "rs257387787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257387787" } ] } ] } ], "record_id": "Q3TMH2-1" }, { "uniprot_canonical_ac": "A8Y5H7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A8Y5H7", "url": "https://www.uniprot.org/uniprotkb/A8Y5H7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 715, "chemical_mass": 81216.0, "gene_names": "Sec14l1;1200017E04Rik;2810012L19Rik;Kiaa4251;Naa-35;Sec14l1", "protein_name": "SEC14-like protein 1", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A8Y5H7", "url": "https://www.uniprot.org/uniprotkb/A8Y5H7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A8Y5H7", "url": "https://www.uniprot.org/uniprotkb/A8Y5H7" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "A8Y5H7", "url": "https://www.uniprot.org/uniprotkb/A8Y5H7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A8Y5H7", "url": "https://www.uniprot.org/uniprotkb/A8Y5H7" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "A8Y5H7", "url": "https://www.uniprot.org/uniprotkb/A8Y5H7" } ], "pmid": "" }, { "name": "choline transport", "id": "GO:0015871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015871", "evidence": [ { "database": "UniProtKB", "id": "A8Y5H7", "url": "https://www.uniprot.org/uniprotkb/A8Y5H7" } ], "pmid": "" }, { "name": "negative regulation of RIG-I signaling pathway", "id": "GO:0039536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039536", "evidence": [ { "database": "UniProtKB", "id": "A8Y5H7", "url": "https://www.uniprot.org/uniprotkb/A8Y5H7" } ], "pmid": "" }, { "name": "negative regulation of cytoplasmic pattern recognition receptor signaling pathway", "id": "GO:0039532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039532", "evidence": [ { "database": "UniProtKB", "id": "A8Y5H7", "url": "https://www.uniprot.org/uniprotkb/A8Y5H7" } ], "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": "A8Y5H7", "url": "https://www.uniprot.org/uniprotkb/A8Y5H7" } ], "pmid": "" } ], "molecular_function": [ { "name": "RIG-I binding", "id": "GO:0039552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039552", "evidence": [ { "database": "UniProtKB", "id": "A8Y5H7", "url": "https://www.uniprot.org/uniprotkb/A8Y5H7" } ], "pmid": "" }, { "name": "protein sequestering activity", "id": "GO:0140311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140311", "evidence": [ { "database": "UniProtKB", "id": "A8Y5H7", "url": "https://www.uniprot.org/uniprotkb/A8Y5H7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A8Y5H7-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Thr351", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 351, "start_aa": "Thr", "end_pos": 351, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr351", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "A8Y5H7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A8Y5H7" } ] } ] }, { "uniprot_canonical_ac": "A8Y5H7-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Thr234", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A8Y5H7", "url": "https://www.uniprot.org/uniprotkb/A8Y5H7" } ] } ] }, { "uniprot_canonical_ac": "A8Y5H7-1", "start_pos": "586", "end_pos": "586", "site_lbl": "Ser586", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A8Y5H7", "url": "https://www.uniprot.org/uniprotkb/A8Y5H7" } ] } ] }, { "uniprot_canonical_ac": "A8Y5H7-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Ile134", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IKS->NKS).", "chr_id": "11", "chr_pos": "117034168", "evidence": [ { "id": "rs3389189674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389189674" } ] } ] } ], "record_id": "A8Y5H7-1" }, { "uniprot_canonical_ac": "Q64519-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 442, "chemical_mass": 46002.0, "gene_names": "Sdc3;Kiaa0468;Sdc3;Synd3;mKIAA0468;syn-3", "protein_name": "Syndecan-3", "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": "microspike", "id": "GO:0044393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044393", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ], "pmid": "" }, { "name": "Golgi lumen", "id": "GO:0005796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005796", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q64519-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Thr107", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 107, "start_aa": "Thr", "end_pos": 107, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr107", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Ser161", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc) serine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 161, "start_aa": "Ser", "end_pos": 161, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser161", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Thr162", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 162, "start_aa": "Thr", "end_pos": 162, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr162", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Thr163", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 163, "start_aa": "Thr", "end_pos": 163, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr163", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Thr170", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 170, "start_aa": "Thr", "end_pos": 170, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr170", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Thr172", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 172, "start_aa": "Thr", "end_pos": 172, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr172", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "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": "Q64519-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Thr287", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 287, "start_aa": "Thr", "end_pos": 287, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr287", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->M); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546502", "evidence": [ { "id": "rs3542854210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542854210" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Ser315", "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...) (glycosaminoglycan) serine", "icn3d_view": {}, "start_pos": 315, "start_aa": "Ser", "end_pos": 315, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser315", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Ser367", "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...) (glycosaminoglycan) serine", "icn3d_view": {}, "start_pos": 367, "start_aa": "Ser", "end_pos": 367, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser367", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Ser78", "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...) (glycosaminoglycan) serine", "icn3d_view": {}, "start_pos": 78, "start_aa": "Ser", "end_pos": 78, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser78", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Ser80", "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...) (glycosaminoglycan) serine", "icn3d_view": {}, "start_pos": 80, "start_aa": "Ser", "end_pos": 80, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser80", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Ser82", "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...) (glycosaminoglycan) serine", "icn3d_view": {}, "start_pos": 82, "start_aa": "Ser", "end_pos": 82, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser82", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ser89", "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...) (glycosaminoglycan) serine", "icn3d_view": {}, "start_pos": 89, "start_aa": "Ser", "end_pos": 89, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser89", "evidence": [ { "id": "Q64519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64519#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Tyr409", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ] } ], "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130550017", "evidence": [ { "id": "rs3388718779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388718779" } ] }, { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130550016", "evidence": [ { "id": "rs3388713739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388713739" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Tyr419", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Tyr431", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Tyr441", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64519", "url": "https://www.uniprot.org/uniprotkb/Q64519" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Ala105", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130545956", "evidence": [ { "id": "rs3542794325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542794325" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ala11", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130545956", "evidence": [ { "id": "rs3542794325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542794325" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Asp121", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546005", "evidence": [ { "id": "rs3388718822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388718822" } ] }, { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546003", "evidence": [ { "id": "rs3388718511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388718511" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Thr122", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546006", "evidence": [ { "id": "rs3388713733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388713733" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Pro123", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546009", "evidence": [ { "id": "rs3388711578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388711578" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Glu130", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546030", "evidence": [ { "id": "rs3542811072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542811072" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Val143", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546069", "evidence": [ { "id": "rs3542813777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542813777" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Ser165", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546136", "evidence": [ { "id": "rs3388718507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388718507" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Ala178", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546175", "evidence": [ { "id": "rs3542794114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542794114" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Pro181", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546183", "evidence": [ { "id": "rs3542854391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542854391" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Ser255", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546406", "evidence": [ { "id": "rs3542859547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542859547" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Arg258", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546415", "evidence": [ { "id": "rs3388711181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388711181" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Arg262", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546426", "evidence": [ { "id": "rs3542883476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542883476" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Val271", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546454", "evidence": [ { "id": "rs3388716894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388716894" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "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, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130546457", "evidence": [ { "id": "rs3542793106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542793106" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Glu296", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130548692", "evidence": [ { "id": "rs3542859041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542859041" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Val308", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130548727", "evidence": [ { "id": "rs3388718780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388718780" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Asp317", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130548755", "evidence": [ { "id": "rs3394873360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394873360" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Gln376", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130548932", "evidence": [ { "id": "rs3388718797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388718797" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Leu403", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130549998", "evidence": [ { "id": "rs3388718462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388718462" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Glu51", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130544176", "evidence": [ { "id": "rs3388713671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388713671" } ] } ] }, { "uniprot_canonical_ac": "Q64519-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Thr93", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "130545919", "evidence": [ { "id": "rs3388711240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388711240" } ] } ] } ], "record_id": "Q64519-1" }, { "uniprot_canonical_ac": "D3Z2R5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 557, "chemical_mass": 62492.0, "gene_names": "Selenon;1110019I12Rik;SelN;Selenon;Seln;Sepn1", "protein_name": "Selenoprotein N", "disease": [ { "disease_id": "DOID:0081337", "name": "congenital myopathy", "description": "A myopathy that is characterized by hypotonia and weakness, usually present from birth.", "url": "https://disease-ontology.org/term/DOID:0081337", "evidence": [ { "id": "0081337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081337" } ], "weight": 0.0 }, { "disease_id": "DOID:0110633", "name": "rigid spine muscular dystrophy 1", "description": "A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0110633", "evidence": [ { "id": "0110633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110633" } ], "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": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "L-ascorbic acid transmembrane transport", "id": "GO:0015882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015882", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "skeletal muscle satellite cell differentiation", "id": "GO:0014816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014816", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle cell proliferation", "id": "GO:0014858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014858", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "membrane to membrane docking", "id": "GO:0022614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022614", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "respiratory system process", "id": "GO:0003016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003016", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "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": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "membrane organization", "id": "GO:0061024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061024", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "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": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "skeletal muscle fiber development", "id": "GO:0048741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048741", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "positive regulation of response to oxidative stress", "id": "GO:1902884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902884", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "energy reserve metabolic process", "id": "GO:0006112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006112", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "cell redox homeostasis", "id": "GO:0045454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045454", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "mitochondrial calcium ion transmembrane transport", "id": "GO:0006851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006851", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "response to muscle activity involved in regulation of muscle adaptation", "id": "GO:0014873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014873", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "regulation of ryanodine-sensitive calcium-release channel activity", "id": "GO:0060314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060314", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration", "id": "GO:0014834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014834", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "calcium ion import", "id": "GO:0070509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070509", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "diaphragm contraction", "id": "GO:0002086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002086", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "muscle structure development", "id": "GO:0061061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061061", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "cellular response to caffeine", "id": "GO:0071313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071313", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "L-ascorbic acid metabolic process", "id": "GO:0019852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019852", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "membrane biogenesis", "id": "GO:0044091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044091", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "multicellular organismal response to stress", "id": "GO:0033555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033555", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "mitochondrion-endoplasmic reticulum membrane tethering", "id": "GO:1990456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990456", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "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": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "D3Z2R5", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D3Z2R5-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Asn156", "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": "NWTTAASPSAAFAAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 156, "start_aa": "Asn", "end_pos": 156, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn156", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 156, "start_aa": "Asn", "end_pos": 156, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn156", "evidence": [ { "id": "D3Z2R5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "D3Z2R5-1", "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": "D3Z2R5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "D3Z2R5-1", "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": "D3Z2R5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/D3Z2R5#ptm_processing" } ] } ] } ], "record_id": "D3Z2R5-1" }, { "uniprot_canonical_ac": "Q0VG18-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q0VG18", "url": "https://www.uniprot.org/uniprotkb/Q0VG18" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 120, "chemical_mass": 13547.0, "gene_names": "Smim24;2210404O07Rik;Smim24", "protein_name": "Small integral membrane protein 24", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q0VG18", "url": "https://www.uniprot.org/uniprotkb/Q0VG18" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q0VG18-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Ser109", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q0VG18", "url": "https://www.uniprot.org/uniprotkb/Q0VG18" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q0VG18", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0VG18" } ] } ] }, { "uniprot_canonical_ac": "Q0VG18-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Ser110", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q0VG18", "url": "https://www.uniprot.org/uniprotkb/Q0VG18" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q0VG18", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0VG18" } ] } ] } ], "record_id": "Q0VG18-1" }, { "uniprot_canonical_ac": "D3Z5L6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3Z5L6", "url": "https://www.uniprot.org/uniprotkb/D3Z5L6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 459, "chemical_mass": 49009.0, "gene_names": "Slc18b1;1110021L09Rik", "protein_name": "MFS-type transporter SLC18B1", "disease": [], "biological_process": [ { "name": "spermine transport", "id": "GO:0000296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000296", "evidence": [ { "database": "UniProtKB", "id": "D3Z5L6", "url": "https://www.uniprot.org/uniprotkb/D3Z5L6" } ], "pmid": "" }, { "name": "serotonin uptake", "id": "GO:0051610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051610", "evidence": [ { "database": "UniProtKB", "id": "D3Z5L6", "url": "https://www.uniprot.org/uniprotkb/D3Z5L6" } ], "pmid": "" }, { "name": "spermidine transport", "id": "GO:0015848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015848", "evidence": [ { "database": "UniProtKB", "id": "D3Z5L6", "url": "https://www.uniprot.org/uniprotkb/D3Z5L6" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "D3Z5L6", "url": "https://www.uniprot.org/uniprotkb/D3Z5L6" } ], "pmid": "" }, { "name": "monoamine:proton antiporter activity", "id": "GO:0015311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015311", "evidence": [ { "database": "UniProtKB", "id": "D3Z5L6", "url": "https://www.uniprot.org/uniprotkb/D3Z5L6" } ], "pmid": "" }, { "name": "polyamine:proton antiporter activity", "id": "GO:0015312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015312", "evidence": [ { "database": "UniProtKB", "id": "D3Z5L6", "url": "https://www.uniprot.org/uniprotkb/D3Z5L6" } ], "pmid": "" } ], "cellular_component": [ { "name": "secretory granule membrane", "id": "GO:0030667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030667", "evidence": [ { "database": "UniProtKB", "id": "D3Z5L6", "url": "https://www.uniprot.org/uniprotkb/D3Z5L6" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "D3Z5L6", "url": "https://www.uniprot.org/uniprotkb/D3Z5L6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D3Z5L6-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ser21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "D3Z5L6", "url": "https://www.uniprot.org/uniprotkb/D3Z5L6" } ] } ] } ], "record_id": "D3Z5L6-1" }, { "uniprot_canonical_ac": "Q8R043-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R043", "url": "https://www.uniprot.org/uniprotkb/Q8R043" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 102, "chemical_mass": 11553.0, "gene_names": "Smim29;AI413582;Smim29", "protein_name": "Small integral membrane protein 29", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8R043", "url": "https://www.uniprot.org/uniprotkb/Q8R043" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R043-1", "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": "Q8R043", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R043#ptm_processing" } ] } ] } ], "record_id": "Q8R043-1" }, { "uniprot_canonical_ac": "Q6GQS1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 467, "chemical_mass": 52497.0, "gene_names": "Slc25a23;2310067G05Rik;SCaMC-3;Scamc3;Slc25a23", "protein_name": "Mitochondrial adenyl nucleotide antiporter SLC25A23", "disease": [], "biological_process": [ { "name": "regulation of cellular respiration", "id": "GO:0043457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043457", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" }, { "name": "mitochondrial calcium ion transmembrane transport", "id": "GO:0006851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006851", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" }, { "name": "ADP transport", "id": "GO:0015866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015866", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" }, { "name": "calcium import into the mitochondrion", "id": "GO:0036444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036444", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" }, { "name": "renal system process", "id": "GO:0003014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003014", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" }, { "name": "regulation of oxidative phosphorylation", "id": "GO:0002082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002082", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "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": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" }, { "name": "ATP transport", "id": "GO:0015867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015867", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" }, { "name": "adenine nucleotide transport", "id": "GO:0051503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051503", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" }, { "name": "regulation of cellular hyperosmotic salinity response", "id": "GO:1900069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900069", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "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": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" }, { "name": "mitochondrial ATP transmembrane transport", "id": "GO:1990544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990544", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" }, { "name": "adenine nucleotide transmembrane transporter activity", "id": "GO:0000295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000295", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" }, { "name": "ATP transmembrane transporter activity", "id": "GO:0005347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005347", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" }, { "name": "ATP:phosphate antiporter activity", "id": "GO:0140987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140987", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" }, { "name": "ADP:phosphate antiporter activity", "id": "GO:0140988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140988", "evidence": [ { "database": "UniProtKB", "id": "Q6GQS1", "url": "https://www.uniprot.org/uniprotkb/Q6GQS1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6GQS1-1" }, { "uniprot_canonical_ac": "F6XZJ7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "F6XZJ7", "url": "https://www.uniprot.org/uniprotkb/F6XZJ7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 620, "chemical_mass": 70457.0, "gene_names": "Samd15;Gm263;Samd15", "protein_name": "Sterile alpha motif domain-containing protein 15", "disease": [], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "F6XZJ7", "url": "https://www.uniprot.org/uniprotkb/F6XZJ7" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine kinase activator activity", "id": "GO:0043539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043539", "evidence": [ { "database": "UniProtKB", "id": "F6XZJ7", "url": "https://www.uniprot.org/uniprotkb/F6XZJ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F6XZJ7-1" }, { "uniprot_canonical_ac": "Q4LDG0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 689, "chemical_mass": 76203.0, "gene_names": "Slc27a5;Acsb;Acsvl6;FACVL3;FATP5;Fatp5;Slc27a5;VLCS-H2;VLCSH2;Vlacsr", "protein_name": "Long-chain fatty acid transport protein 5", "disease": [], "molecular_function": [ { "name": "fatty acid transmembrane transporter activity", "id": "GO:0015245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015245", "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "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": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "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": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "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": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" }, { "name": "cholate-CoA ligase activity", "id": "GO:0047747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047747", "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" }, { "name": "ligase activity", "id": "GO:0016874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016874", "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" } ], "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": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "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": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" }, { "name": "bile acid biosynthetic process", "id": "GO:0006699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006699", "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" }, { "name": "ketone body biosynthetic process", "id": "GO:0046951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046951", "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" }, { "name": "fatty acid transport", "id": "GO:0015908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015908", "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "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": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" }, { "name": "bile acid metabolic process", "id": "GO:0008206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008206", "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" }, { "name": "triglyceride mobilization", "id": "GO:0006642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006642", "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "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": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q4LDG0", "url": "https://www.uniprot.org/uniprotkb/Q4LDG0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q4LDG0-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Thr257", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 257, "start_aa": "Thr", "end_pos": 257, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr257", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q4LDG0-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Arg171", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTR->NTT).", "chr_id": "7", "chr_pos": "12731478", "evidence": [ { "id": "rs3388841095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388841095" } ] } ] } ], "record_id": "Q4LDG0-1" }, { "uniprot_canonical_ac": "O54926-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54926", "url": "https://www.uniprot.org/uniprotkb/O54926" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 175, "chemical_mass": 18770.0, "gene_names": "Siva1;CD27bp;Siva1;Siva", "protein_name": "Apoptosis regulatory protein Siva", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O54926", "url": "https://www.uniprot.org/uniprotkb/O54926" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O54926", "url": "https://www.uniprot.org/uniprotkb/O54926" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O54926", "url": "https://www.uniprot.org/uniprotkb/O54926" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O54926", "url": "https://www.uniprot.org/uniprotkb/O54926" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "O54926", "url": "https://www.uniprot.org/uniprotkb/O54926" } ], "pmid": "" }, { "name": "CD27 receptor binding", "id": "GO:0005175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005175", "evidence": [ { "database": "UniProtKB", "id": "O54926", "url": "https://www.uniprot.org/uniprotkb/O54926" } ], "pmid": "" }, { "name": "tumor necrosis factor receptor binding", "id": "GO:0005164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005164", "evidence": [ { "database": "UniProtKB", "id": "O54926", "url": "https://www.uniprot.org/uniprotkb/O54926" } ], "pmid": "" } ], "biological_process": [ { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "O54926", "url": "https://www.uniprot.org/uniprotkb/O54926" } ], "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": "O54926", "url": "https://www.uniprot.org/uniprotkb/O54926" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "O54926", "url": "https://www.uniprot.org/uniprotkb/O54926" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "O54926", "url": "https://www.uniprot.org/uniprotkb/O54926" } ], "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": "O54926", "url": "https://www.uniprot.org/uniprotkb/O54926" } ], "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": "O54926", "url": "https://www.uniprot.org/uniprotkb/O54926" } ], "pmid": "" }, { "name": "T cell apoptotic process", "id": "GO:0070231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070231", "evidence": [ { "database": "UniProtKB", "id": "O54926", "url": "https://www.uniprot.org/uniprotkb/O54926" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O54926-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Tyr34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54926", "url": "https://www.uniprot.org/uniprotkb/O54926" } ] } ] }, { "uniprot_canonical_ac": "O54926-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Ser70", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54926", "url": "https://www.uniprot.org/uniprotkb/O54926" } ] } ] } ], "record_id": "O54926-1" }, { "uniprot_canonical_ac": "O55192-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 617, "chemical_mass": 69255.0, "gene_names": "Slc6a2;NE-T;NET;Slc6a2;Slc6a5", "protein_name": "Sodium-dependent noradrenaline transporter", "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: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:0070489", "name": "classic dopamine transporter deficiency syndrome", "description": "A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid.", "url": "https://disease-ontology.org/term/DOID:0070489", "evidence": [ { "id": "0070489", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070489" } ], "weight": 0.0 }, { "disease_id": "DOID:0090145", "name": "dopamine beta-hydroxylase deficiency", "description": "An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34.", "url": "https://disease-ontology.org/term/DOID:0090145", "evidence": [ { "id": "0090145", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090145" } ], "weight": 0.0 }, { "disease_id": "DOID:10273", "name": "heart conduction disease", "description": "A cardiovascular system disease that involves the heart's electrical conduction system.", "url": "https://disease-ontology.org/term/DOID:10273", "evidence": [ { "id": "10273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10273" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11569", "name": "neurocirculatory asthenia", "description": "A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities.", "url": "https://disease-ontology.org/term/DOID:11569", "evidence": [ { "id": "11569", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11569" } ], "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: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 } ], "molecular_function": [ { "name": "neurotransmitter transmembrane transporter activity", "id": "GO:0005326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005326", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "neurotransmitter:sodium symporter activity", "id": "GO:0005328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005328", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "norepinephrine:sodium symporter activity", "id": "GO:0005334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005334", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "alpha-tubulin binding", "id": "GO:0043014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043014", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "monoamine transmembrane transporter activity", "id": "GO:0008504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008504", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "dopamine:sodium symporter activity", "id": "GO:0005330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005330", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" } ], "biological_process": [ { "name": "monoamine transport", "id": "GO:0015844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015844", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "response to pain", "id": "GO:0048265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048265", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "norepinephrine transport", "id": "GO:0015874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015874", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "neurotransmitter transport", "id": "GO:0006836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006836", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "dopamine uptake involved in synaptic transmission", "id": "GO:0051583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051583", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "neurotransmitter reuptake", "id": "GO:0098810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098810", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "norepinephrine uptake", "id": "GO:0051620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051620", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "neuronal cell body membrane", "id": "GO:0032809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032809", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O55192-1", "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": "O55192", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O55192#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O55192-1", "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": "LLNASVLGDHTK", "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": "", "type": "N-linked", "subtype": "", "prediction_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": "O55192", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O55192#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O55192-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Thr30", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "O55192", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O55192" }, { "database": "PubMed", "id": "25724654", "url": "https://glygen.org/publication/PubMed/25724654" } ] } ] }, { "uniprot_canonical_ac": "O55192-1", "start_pos": "451", "end_pos": "451", "site_lbl": "Ile451", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IST->NST).", "chr_id": "8", "chr_pos": "93720736", "evidence": [ { "id": "rs3388998862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388998862" } ] } ] }, { "uniprot_canonical_ac": "O55192-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Ala457", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Heterozygous knockin mice have tachycardia without a change in blood pressure or baroreceptor sensitivity, reduced brain and sympathetic norepinephrine transport, elevated plasma and urine norepinephrine levels, reduced 3,4-dihydroxyphenylglycol levels and 3,4-dihydroxyphenylglycol:norepinephrine ratios compared with wild-type mice, consistent with a decrease in sympathetic nerve terminal norepinephrine reuptake.", "evidence": [ { "database": "UniProtKB", "id": "O55192", "url": "https://www.uniprot.org/uniprotkb/O55192" }, { "database": "PubMed", "id": "23580201", "url": "https://glygen.org/publication/PubMed/23580201" } ] } ] } ], "record_id": "O55192-1" }, { "uniprot_canonical_ac": "O88520-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 582, "chemical_mass": 64893.0, "gene_names": "Shoc2;Shoc2;Sur8;mKIAA0862", "protein_name": "Leucine-rich repeat protein SHOC-2", "disease": [ { "disease_id": "DOID:0080690", "name": "RASopathy", "description": "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.", "url": "https://disease-ontology.org/term/DOID:0080690", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ], "weight": 0.0 }, { "disease_id": "DOID:0080691", "name": "Noonan syndrome-like disorder with loose anagen hair", "description": "A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay.", "url": "https://disease-ontology.org/term/DOID:0080691", "evidence": [ { "id": "0080691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080691" } ], "weight": 0.0 }, { "disease_id": "DOID:0080692", "name": "Noonan syndrome-like disorder with loose anagen hair 1", "description": "A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25.", "url": "https://disease-ontology.org/term/DOID:0080692", "evidence": [ { "id": "0080692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080692" } ], "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 } ], "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": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "pmid": "" }, { "name": "cellular response to growth hormone stimulus", "id": "GO:0071378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071378", "evidence": [ { "database": "UniProtKB", "id": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "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": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "pmid": "" }, { "name": "regulation of MAPK cascade", "id": "GO:0043408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "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": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "pmid": "" }, { "name": "nerve growth factor signaling pathway", "id": "GO:0038180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038180", "evidence": [ { "database": "UniProtKB", "id": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "pmid": "" }, { "name": "cyclic-GMP-AMP transmembrane import across plasma membrane", "id": "GO:0140361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140361", "evidence": [ { "database": "UniProtKB", "id": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "pmid": "" } ], "cellular_component": [ { "name": "protein phosphatase type 1 complex", "id": "GO:0000164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000164", "evidence": [ { "database": "UniProtKB", "id": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "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": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "O88520", "url": "https://www.uniprot.org/uniprotkb/O88520" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O88520-1" }, { "uniprot_canonical_ac": "O88909-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88909", "url": "https://www.uniprot.org/uniprotkb/O88909" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 537, "chemical_mass": 59246.0, "gene_names": "Slc22a8;Oat3;Roct;Slc22a8", "protein_name": "Organic anion transporter 3", "disease": [], "molecular_function": [ { "name": "quaternary ammonium group transmembrane transporter activity", "id": "GO:0015651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015651", "evidence": [ { "database": "UniProtKB", "id": "O88909", "url": "https://www.uniprot.org/uniprotkb/O88909" } ], "pmid": "" }, { "name": "xenobiotic transmembrane transporter activity", "id": "GO:0042910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042910", "evidence": [ { "database": "UniProtKB", "id": "O88909", "url": "https://www.uniprot.org/uniprotkb/O88909" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "O88909", "url": "https://www.uniprot.org/uniprotkb/O88909" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "O88909", "url": "https://www.uniprot.org/uniprotkb/O88909" } ], "pmid": "" }, { "name": "antiporter activity", "id": "GO:0015297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "database": "UniProtKB", "id": "O88909", "url": "https://www.uniprot.org/uniprotkb/O88909" } ], "pmid": "" }, { "name": "solute:inorganic anion antiporter activity", "id": "GO:0005452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005452", "evidence": [ { "database": "UniProtKB", "id": "O88909", "url": "https://www.uniprot.org/uniprotkb/O88909" } ], "pmid": "" }, { "name": "prostaglandin transmembrane transporter activity", "id": "GO:0015132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015132", "evidence": [ { "database": "UniProtKB", "id": "O88909", "url": "https://www.uniprot.org/uniprotkb/O88909" } ], "pmid": "" } ], "biological_process": [ { "name": "quaternary ammonium group transport", "id": "GO:0015697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015697", "evidence": [ { "database": "UniProtKB", "id": "O88909", "url": "https://www.uniprot.org/uniprotkb/O88909" } ], "pmid": "" }, { "name": "glutathione transport", "id": "GO:0034635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034635", "evidence": [ { "database": "UniProtKB", "id": "O88909", "url": "https://www.uniprot.org/uniprotkb/O88909" } ], "pmid": "" }, { "name": "monoatomic ion transport", "id": "GO:0006811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "evidence": [ { "database": "UniProtKB", "id": "O88909", "url": "https://www.uniprot.org/uniprotkb/O88909" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "O88909", "url": "https://www.uniprot.org/uniprotkb/O88909" } ], "pmid": "" }, { "name": "organic anion transport", "id": "GO:0015711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015711", "evidence": [ { "database": "UniProtKB", "id": "O88909", "url": "https://www.uniprot.org/uniprotkb/O88909" } ], "pmid": "" }, { "name": "prostaglandin transport", "id": "GO:0015732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015732", "evidence": [ { "database": "UniProtKB", "id": "O88909", "url": "https://www.uniprot.org/uniprotkb/O88909" } ], "pmid": "" } ], "cellular_component": [ { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "O88909", "url": "https://www.uniprot.org/uniprotkb/O88909" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O88909", "url": "https://www.uniprot.org/uniprotkb/O88909" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88909-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Asn81", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "O88909", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O88909#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O88909-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Ser4", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88909", "url": "https://www.uniprot.org/uniprotkb/O88909" } ] } ] } ], "record_id": "O88909-1" }, { "uniprot_canonical_ac": "P70178-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 719, "chemical_mass": 73717.0, "gene_names": "Six5;Dmahp;MDMAHP;Six5;TrexBF", "protein_name": "Homeobox protein SIX5", "disease": [ { "disease_id": "DOID:0111424", "name": "branchiootorenal syndrome 2", "description": "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32.", "url": "https://disease-ontology.org/term/DOID:0111424", "evidence": [ { "id": "0111424", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111424" } ], "weight": 0.0 }, { "disease_id": "DOID:11722", "name": "myotonic dystrophy type 1", "description": "A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.", "url": "https://disease-ontology.org/term/DOID:11722", "evidence": [ { "id": "11722", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11722" } ], "weight": 0.0 }, { "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 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "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": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "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": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "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": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "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": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "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": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "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": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "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": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "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": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "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": "P70178", "url": "https://www.uniprot.org/uniprotkb/P70178" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P70178-1" }, { "uniprot_canonical_ac": "P70390-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 331, "chemical_mass": 34905.0, "gene_names": "Shox2;6330543G17Rik;OG12;Og12x;Prx3;SHOT;Shox2", "protein_name": "Short stature homeobox protein 2", "disease": [ { "disease_id": "DOID:0060847", "name": "Leri-Weill dyschondrosteosis", "description": "An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain.", "url": "https://disease-ontology.org/term/DOID:0060847", "evidence": [ { "id": "0060847", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060847" } ], "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 } ], "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": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "heart valve development", "id": "GO:0003170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003170", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "sinoatrial node cell development", "id": "GO:0060931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060931", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "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": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "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": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "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": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "embryonic morphogenesis", "id": "GO:0048598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048598", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "positive regulation of axonogenesis", "id": "GO:0050772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050772", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "regulation of chondrocyte differentiation", "id": "GO:0032330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032330", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "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": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle fiber development", "id": "GO:0048743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048743", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "chondrocyte development", "id": "GO:0002063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002063", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "embryonic skeletal joint morphogenesis", "id": "GO:0060272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060272", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "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": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "cardiac atrium morphogenesis", "id": "GO:0003209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003209", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "embryonic digestive tract morphogenesis", "id": "GO:0048557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048557", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "regulation of branching morphogenesis of a nerve", "id": "GO:2000172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000172", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "muscle tissue morphogenesis", "id": "GO:0060415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060415", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "cardiac right atrium morphogenesis", "id": "GO:0003213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003213", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "sinoatrial node development", "id": "GO:0003163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003163", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "cardiac pacemaker cell differentiation", "id": "GO:0060920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060920", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "sinoatrial valve development", "id": "GO:0003172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003172", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" } ], "molecular_function": [ { "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": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "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": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "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": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P70390", "url": "https://www.uniprot.org/uniprotkb/P70390" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P70390-1" }, { "uniprot_canonical_ac": "Q05A13-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q05A13", "url": "https://www.uniprot.org/uniprotkb/Q05A13" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 316, "chemical_mass": 35158.0, "gene_names": "Sdr16c6;4833413O15Rik;Gm423;Sdr16c6", "protein_name": "Short-chain dehydrogenase/reductase family 16C member 6", "disease": [], "cellular_component": [ { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q05A13", "url": "https://www.uniprot.org/uniprotkb/Q05A13" } ], "pmid": "" } ], "molecular_function": [ { "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": "Q05A13", "url": "https://www.uniprot.org/uniprotkb/Q05A13" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q05A13-1" }, { "uniprot_canonical_ac": "Q3TAA7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3TAA7", "url": "https://www.uniprot.org/uniprotkb/Q3TAA7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1072, "chemical_mass": 118005.0, "gene_names": "Stk11ip;1200014D22Rik;LIP1;LKB1IP;Lip1;Lkb1ip;Stk11ip", "protein_name": "Serine/threonine-protein kinase 11-interacting protein", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3TAA7", "url": "https://www.uniprot.org/uniprotkb/Q3TAA7" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q3TAA7", "url": "https://www.uniprot.org/uniprotkb/Q3TAA7" } ], "pmid": "" }, { "name": "protein sequestering activity", "id": "GO:0140311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140311", "evidence": [ { "database": "UniProtKB", "id": "Q3TAA7", "url": "https://www.uniprot.org/uniprotkb/Q3TAA7" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q3TAA7", "url": "https://www.uniprot.org/uniprotkb/Q3TAA7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3TAA7-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Ser388", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TAA7", "url": "https://www.uniprot.org/uniprotkb/Q3TAA7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3TAA7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3TAA7" } ] } ] }, { "uniprot_canonical_ac": "Q3TAA7-1", "start_pos": "390", "end_pos": "390", "site_lbl": "Ser390", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TAA7", "url": "https://www.uniprot.org/uniprotkb/Q3TAA7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3TAA7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3TAA7" } ] } ] }, { "uniprot_canonical_ac": "Q3TAA7-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Ser393", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TAA7", "url": "https://www.uniprot.org/uniprotkb/Q3TAA7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3TAA7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3TAA7" } ] } ] }, { "uniprot_canonical_ac": "Q3TAA7-1", "start_pos": "757", "end_pos": "757", "site_lbl": "Ser757", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TAA7", "url": "https://www.uniprot.org/uniprotkb/Q3TAA7" } ] } ] }, { "uniprot_canonical_ac": "Q3TAA7-1", "start_pos": "761", "end_pos": "761", "site_lbl": "Ser761", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TAA7", "url": "https://www.uniprot.org/uniprotkb/Q3TAA7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3TAA7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3TAA7" } ] } ] }, { "uniprot_canonical_ac": "Q3TAA7-1", "start_pos": "763", "end_pos": "763", "site_lbl": "Ser763", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TAA7", "url": "https://www.uniprot.org/uniprotkb/Q3TAA7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3TAA7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3TAA7" } ] } ] } ], "record_id": "Q3TAA7-1" }, { "uniprot_canonical_ac": "Q3U276-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U276", "url": "https://www.uniprot.org/uniprotkb/Q3U276" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 118, "chemical_mass": 13142.0, "gene_names": "Sdhaf1;0610010E21Rik;Lyrm8;Sdhaf1", "protein_name": "Succinate dehydrogenase assembly factor 1, mitochondrial", "disease": [ { "disease_id": "DOID:0060537", "name": "mitochondrial complex II deficiency", "description": "A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0060537", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3U276", "url": "https://www.uniprot.org/uniprotkb/Q3U276" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q3U276", "url": "https://www.uniprot.org/uniprotkb/Q3U276" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q3U276", "url": "https://www.uniprot.org/uniprotkb/Q3U276" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial respiratory chain complex II assembly", "id": "GO:0034553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034553", "evidence": [ { "database": "UniProtKB", "id": "Q3U276", "url": "https://www.uniprot.org/uniprotkb/Q3U276" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3U276-1" }, { "uniprot_canonical_ac": "Q3UHH2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UHH2", "url": "https://www.uniprot.org/uniprotkb/Q3UHH2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 689, "chemical_mass": 74325.0, "gene_names": "Slc22a23;3110004L20Rik;Slc22a23", "protein_name": "Solute carrier family 22 member 23", "disease": [], "biological_process": [ { "name": "monoatomic ion transport", "id": "GO:0006811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "evidence": [ { "database": "UniProtKB", "id": "Q3UHH2", "url": "https://www.uniprot.org/uniprotkb/Q3UHH2" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q3UHH2", "url": "https://www.uniprot.org/uniprotkb/Q3UHH2" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q3UHH2", "url": "https://www.uniprot.org/uniprotkb/Q3UHH2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UHH2-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Asn173", "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": "SNSSDTPPLPSPPGK", "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": "Q3UHH2-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Asn189", "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": "GNNDSNCDCHAWDYGIR", "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": "Q3UHH2-1", "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": "Q3UHH2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UHH2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3UHH2-1", "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": "Q3UHH2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UHH2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3UHH2-1", "start_pos": "628", "end_pos": "628", "site_lbl": "Asn628", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQN->NQS).", "chr_id": "13", "chr_pos": "34367124", "evidence": [ { "id": "rs36533715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36533715" } ] } ] } ], "record_id": "Q3UHH2-1" }, { "uniprot_canonical_ac": "Q3UPR0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UPR0", "url": "https://www.uniprot.org/uniprotkb/Q3UPR0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 238, "chemical_mass": 25602.0, "gene_names": "Shisa3;D830007B15Rik;Shisa3", "protein_name": "Protein shisa-3 homolog", "disease": [], "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": "Q3UPR0", "url": "https://www.uniprot.org/uniprotkb/Q3UPR0" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q3UPR0", "url": "https://www.uniprot.org/uniprotkb/Q3UPR0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q3UPR0", "url": "https://www.uniprot.org/uniprotkb/Q3UPR0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3UPR0-1" }, { "uniprot_canonical_ac": "Q504N2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q504N2", "url": "https://www.uniprot.org/uniprotkb/Q504N2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 544, "chemical_mass": 60286.0, "gene_names": "Slc22a15;2610034P21Rik;4930477M19;A530052I06Rik;Slc22a15", "protein_name": "Solute carrier family 22 member 15", "disease": [], "molecular_function": [ { "name": "amino-acid betaine transmembrane transporter activity", "id": "GO:0015199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015199", "evidence": [ { "database": "UniProtKB", "id": "Q504N2", "url": "https://www.uniprot.org/uniprotkb/Q504N2" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q504N2", "url": "https://www.uniprot.org/uniprotkb/Q504N2" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q504N2", "url": "https://www.uniprot.org/uniprotkb/Q504N2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q504N2", "url": "https://www.uniprot.org/uniprotkb/Q504N2" } ], "pmid": "" } ], "biological_process": [ { "name": "monoatomic ion transport", "id": "GO:0006811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "evidence": [ { "database": "UniProtKB", "id": "Q504N2", "url": "https://www.uniprot.org/uniprotkb/Q504N2" } ], "pmid": "" }, { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "Q504N2", "url": "https://www.uniprot.org/uniprotkb/Q504N2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q504N2-1", "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": "Q504N2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q504N2#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRS->SRS).", "chr_id": "3", "chr_pos": "101805369", "evidence": [ { "id": "rs5526195720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526195720" } ] } ] }, { "uniprot_canonical_ac": "Q504N2-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Asn286", "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": "CTFSLTHPANR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 286, "start_aa": "Asn", "end_pos": 286, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn286", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 286, "start_aa": "Asn", "end_pos": 286, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn286", "evidence": [ { "id": "Q504N2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q504N2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q504N2-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Thr45", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 45, "start_aa": "Thr", "end_pos": 45, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr45", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q504N2-1", "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": "Q504N2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q504N2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q504N2-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Asn63", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q504N2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q504N2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q504N2-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Asn80", "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": "GQAFGDWLLTANGSEIHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 80, "start_aa": "Asn", "end_pos": 80, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn80", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 80, "start_aa": "Asn", "end_pos": 80, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn80", "evidence": [ { "id": "Q504N2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q504N2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q504N2-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Ser60", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SHS->NHS); n-glyco-sequon-loss (NQS->NQN).", "chr_id": "3", "chr_pos": "101822742", "evidence": [ { "id": "rs3388653715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388653715" } ] } ] }, { "uniprot_canonical_ac": "Q504N2-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Ser115", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "3", "chr_pos": "101805342", "evidence": [ { "id": "rs3388641091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388641091" } ] } ] } ], "record_id": "Q504N2-1" }, { "uniprot_canonical_ac": "Q61079-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 657, "chemical_mass": 72513.0, "gene_names": "Sim2;Sim2;bHLHe15", "protein_name": "Single-minded homolog 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": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "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": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "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": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "pmid": "" }, { "name": "tube development", "id": "GO:0035295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035295", "evidence": [ { "database": "UniProtKB", "id": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "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": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "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": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "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": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q61079", "url": "https://www.uniprot.org/uniprotkb/Q61079" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q61079-1" }, { "uniprot_canonical_ac": "Q61672-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 456, "chemical_mass": 50255.0, "gene_names": "Slc29a2;Der12;Ent2;Hnp36;Slc29a2;mENT2", "protein_name": "Equilibrative nucleoside transporter 2", "disease": [], "molecular_function": [ { "name": "neurotransmitter transmembrane transporter activity", "id": "GO:0005326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005326", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "nucleobase transmembrane transporter activity", "id": "GO:0015205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015205", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "cytidine transmembrane transporter activity", "id": "GO:0015212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015212", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "uridine transmembrane transporter activity", "id": "GO:0015213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015213", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "purine nucleoside transmembrane transporter activity", "id": "GO:0015211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015211", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "adenine transmembrane transporter activity", "id": "GO:0015207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015207", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "nucleoside transmembrane transporter activity", "id": "GO:0005337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005337", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "guanine transmembrane transporter activity", "id": "GO:0015208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015208", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "uracil transmembrane transporter activity", "id": "GO:0015210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015210", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" } ], "biological_process": [ { "name": "nucleobase transport", "id": "GO:0015851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015851", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "cytidine transport", "id": "GO:0015861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015861", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "nucleoside transport", "id": "GO:0015858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015858", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "purine nucleoside transmembrane transport", "id": "GO:0015860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015860", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "uridine transmembrane transport", "id": "GO:0015862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015862", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "neurotransmitter uptake", "id": "GO:0001504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001504", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "adenine transport", "id": "GO:0015853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015853", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "neurotransmitter transport", "id": "GO:0006836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006836", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "guanine transport", "id": "GO:0015854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015854", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "hypoxanthine transport", "id": "GO:0035344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035344", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "thymine transport", "id": "GO:0035364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035364", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "nucleoside transmembrane transport", "id": "GO:1901642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901642", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "purine nucleobase transmembrane transport", "id": "GO:1904823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904823", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "adenosine transport", "id": "GO:0032238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032238", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "pyrimidine-containing compound transmembrane transport", "id": "GO:0072531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072531", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "inosine transport", "id": "GO:0035340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035340", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "guanine transmembrane transport", "id": "GO:1903716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903716", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "uracil transmembrane transport", "id": "GO:1903791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903791", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61672-1", "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": "Q61672", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61672#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61672-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Ser252", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61672", "url": "https://www.uniprot.org/uniprotkb/Q61672" } ] } ] } ], "record_id": "Q61672-1" }, { "uniprot_canonical_ac": "Q64689-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q64689", "url": "https://www.uniprot.org/uniprotkb/Q64689" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 380, "chemical_mass": 43942.0, "gene_names": "St8sia3;ST8SiaIII;Siat8c;St8sia3", "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "disease": [], "molecular_function": [ { "name": "alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity", "id": "GO:0003828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003828", "evidence": [ { "database": "UniProtKB", "id": "Q64689", "url": "https://www.uniprot.org/uniprotkb/Q64689" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q64689", "url": "https://www.uniprot.org/uniprotkb/Q64689" } ], "pmid": "" }, { "name": "sialyltransferase activity", "id": "GO:0008373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008373", "evidence": [ { "database": "UniProtKB", "id": "Q64689", "url": "https://www.uniprot.org/uniprotkb/Q64689" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q64689", "url": "https://www.uniprot.org/uniprotkb/Q64689" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q64689", "url": "https://www.uniprot.org/uniprotkb/Q64689" } ], "pmid": "" } ], "biological_process": [ { "name": "glycoprotein biosynthetic process", "id": "GO:0009101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009101", "evidence": [ { "database": "UniProtKB", "id": "Q64689", "url": "https://www.uniprot.org/uniprotkb/Q64689" } ], "pmid": "" }, { "name": "oligosaccharide metabolic process", "id": "GO:0009311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009311", "evidence": [ { "database": "UniProtKB", "id": "Q64689", "url": "https://www.uniprot.org/uniprotkb/Q64689" } ], "pmid": "" }, { "name": "glycoprotein metabolic process", "id": "GO:0009100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009100", "evidence": [ { "database": "UniProtKB", "id": "Q64689", "url": "https://www.uniprot.org/uniprotkb/Q64689" } ], "pmid": "" }, { "name": "N-glycan processing", "id": "GO:0006491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006491", "evidence": [ { "database": "UniProtKB", "id": "Q64689", "url": "https://www.uniprot.org/uniprotkb/Q64689" } ], "pmid": "" }, { "name": "sialylation", "id": "GO:0097503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097503", "evidence": [ { "database": "UniProtKB", "id": "Q64689", "url": "https://www.uniprot.org/uniprotkb/Q64689" } ], "pmid": "" }, { "name": "ganglioside biosynthetic process", "id": "GO:0001574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001574", "evidence": [ { "database": "UniProtKB", "id": "Q64689", "url": "https://www.uniprot.org/uniprotkb/Q64689" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q64689-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Asn113", "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": 113, "start_aa": "Asn", "end_pos": 113, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn113", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2707", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2707" } ] }, { "glytoucan_ac": "G31986NC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QEILQHVDVIKNFSLTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 113, "start_aa": "Asn", "end_pos": 113, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn113", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 113, "start_aa": "Asn", "end_pos": 113, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn113", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2707", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2707" } ] }, { "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": 113, "start_aa": "Asn", "end_pos": 113, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn113", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2707", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2707" } ] }, { "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": 113, "start_aa": "Asn", "end_pos": 113, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn113", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2707", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2707" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "Q64689", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64689#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64689-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Asn206", "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": 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": "2707", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2707" } ] }, { "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": "2707", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2707" } ] }, { "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": 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": "2707", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2707" } ] }, { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KTNLTTFNPSILEK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_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": "Q64689", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64689#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64689-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Asn93", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 93, "start_aa": "Asn", "end_pos": 93, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn93", "evidence": [ { "id": "Q64689", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64689#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64689-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Thr208", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLT->NLI); glycogene of type=glycogene, glycosyltransferase.", "chr_id": "18", "chr_pos": "64402817", "evidence": [ { "id": "rs3389519141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389519141" } ] } ] }, { "uniprot_canonical_ac": "Q64689-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Ile123", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "18", "chr_pos": "64402562", "evidence": [ { "id": "rs3389500792", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389500792" } ] } ] }, { "uniprot_canonical_ac": "Q64689-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Val12", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "18", "chr_pos": "64398576", "evidence": [ { "id": "rs3389473229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389473229" } ] } ] }, { "uniprot_canonical_ac": "Q64689-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Gln178", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "18", "chr_pos": "64402726", "evidence": [ { "id": "rs3389519147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389519147" } ] } ] }, { "uniprot_canonical_ac": "Q64689-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Glu195", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "18", "chr_pos": "64402777", "evidence": [ { "id": "rs3389508196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389508196" } ] } ] }, { "uniprot_canonical_ac": "Q64689-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Tyr218", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "18", "chr_pos": "64402847", "evidence": [ { "id": "rs3389500207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389500207" } ] } ] }, { "uniprot_canonical_ac": "Q64689-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Lys237", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "18", "chr_pos": "64402904", "evidence": [ { "id": "rs3389516207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389516207" } ] } ] }, { "uniprot_canonical_ac": "Q64689-1", "start_pos": "291", "end_pos": "291", "site_lbl": "Asn291", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "18", "chr_pos": "64404596", "evidence": [ { "id": "rs3389516186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389516186" } ] } ] }, { "uniprot_canonical_ac": "Q64689-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Thr307", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "18", "chr_pos": "64404644", "evidence": [ { "id": "rs3389522201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389522201" } ] } ] }, { "uniprot_canonical_ac": "Q64689-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Leu362", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "18", "chr_pos": "64404808", "evidence": [ { "id": "rs3389486740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389486740" } ] } ] }, { "uniprot_canonical_ac": "Q64689-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Gln62", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "18", "chr_pos": "64400024", "evidence": [ { "id": "rs3389500710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389500710" } ] } ] }, { "uniprot_canonical_ac": "Q64689-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Thr80", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "18", "chr_pos": "64400077", "evidence": [ { "id": "rs3389511700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389511700" } ] } ] }, { "uniprot_canonical_ac": "Q64689-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Glu82", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "18", "chr_pos": "64400082", "evidence": [ { "id": "rs3389454357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389454357" } ] }, { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "18", "chr_pos": "64400083", "evidence": [ { "id": "rs3389500762", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389500762" } ] } ] }, { "uniprot_canonical_ac": "Q64689-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Trp90", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "18", "chr_pos": "64400108", "evidence": [ { "id": "rs3408838909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408838909" } ] } ] }, { "uniprot_canonical_ac": "Q64689-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Thr91", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "18", "chr_pos": "64400109", "evidence": [ { "id": "rs3408564891", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408564891" } ] } ] } ], "record_id": "Q64689-1" }, { "uniprot_canonical_ac": "Q6A4L0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6A4L0", "url": "https://www.uniprot.org/uniprotkb/Q6A4L0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 551, "chemical_mass": 60724.0, "gene_names": "Slc22a13;OAT10;OCTL1;OCTL3;ORCTL3;Orctl3;Slc22a13", "protein_name": "Solute carrier family 22 member 13", "disease": [], "biological_process": [ { "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": "Q6A4L0", "url": "https://www.uniprot.org/uniprotkb/Q6A4L0" } ], "pmid": "" }, { "name": "nicotinate transport", "id": "GO:2001142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001142", "evidence": [ { "database": "UniProtKB", "id": "Q6A4L0", "url": "https://www.uniprot.org/uniprotkb/Q6A4L0" } ], "pmid": "" }, { "name": "urate transport", "id": "GO:0015747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015747", "evidence": [ { "database": "UniProtKB", "id": "Q6A4L0", "url": "https://www.uniprot.org/uniprotkb/Q6A4L0" } ], "pmid": "" }, { "name": "positive regulation of T cell mediated cytotoxicity directed against tumor cell target", "id": "GO:0002854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002854", "evidence": [ { "database": "UniProtKB", "id": "Q6A4L0", "url": "https://www.uniprot.org/uniprotkb/Q6A4L0" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q6A4L0", "url": "https://www.uniprot.org/uniprotkb/Q6A4L0" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q6A4L0", "url": "https://www.uniprot.org/uniprotkb/Q6A4L0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6A4L0", "url": "https://www.uniprot.org/uniprotkb/Q6A4L0" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q6A4L0", "url": "https://www.uniprot.org/uniprotkb/Q6A4L0" } ], "pmid": "" } ], "molecular_function": [ { "name": "urate transmembrane transporter activity", "id": "GO:0015143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015143", "evidence": [ { "database": "UniProtKB", "id": "Q6A4L0", "url": "https://www.uniprot.org/uniprotkb/Q6A4L0" } ], "pmid": "" }, { "name": "nicotinate transmembrane transporter activity", "id": "GO:0090416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090416", "evidence": [ { "database": "UniProtKB", "id": "Q6A4L0", "url": "https://www.uniprot.org/uniprotkb/Q6A4L0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6A4L0-1", "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": "Q6A4L0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6A4L0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6A4L0-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Asn57", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q6A4L0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6A4L0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6A4L0-1", "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": "Q6A4L0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6A4L0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6A4L0-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Asn74", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "Q6A4L0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6A4L0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6A4L0-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Thr76", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDT->NDA).", "chr_id": "9", "chr_pos": "119037901", "evidence": [ { "id": "rs3547577959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547577959" } ] } ] } ], "record_id": "Q6A4L0-1" }, { "uniprot_canonical_ac": "Q6S5I3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6S5I3", "url": "https://www.uniprot.org/uniprotkb/Q6S5I3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 108, "chemical_mass": 12870.0, "gene_names": "S100a15a;Gm1020;S100A7L1;S100A7f;S100a15a;S100a15;S100a17l1;S100a7a;S100a7", "protein_name": "Protein S100-A15A", "disease": [ { "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 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6S5I3", "url": "https://www.uniprot.org/uniprotkb/Q6S5I3" } ], "pmid": "" } ], "molecular_function": [ { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "Q6S5I3", "url": "https://www.uniprot.org/uniprotkb/Q6S5I3" } ], "pmid": "" }, { "name": "transition metal ion binding", "id": "GO:0046914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046914", "evidence": [ { "database": "UniProtKB", "id": "Q6S5I3", "url": "https://www.uniprot.org/uniprotkb/Q6S5I3" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "Q6S5I3", "url": "https://www.uniprot.org/uniprotkb/Q6S5I3" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q6S5I3", "url": "https://www.uniprot.org/uniprotkb/Q6S5I3" } ], "pmid": "" } ], "biological_process": [ { "name": "endothelial cell migration", "id": "GO:0043542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043542", "evidence": [ { "database": "UniProtKB", "id": "Q6S5I3", "url": "https://www.uniprot.org/uniprotkb/Q6S5I3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6S5I3-1" }, { "uniprot_canonical_ac": "Q7M747-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7M747", "url": "https://www.uniprot.org/uniprotkb/Q7M747" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 112, "chemical_mass": 12535.0, "gene_names": "Scgb2b24;Abpbg24;Abpz;C2b;Scgb2b24;Scgb2b3", "protein_name": "Secretoglobin family 2B member 24", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q7M747", "url": "https://www.uniprot.org/uniprotkb/Q7M747" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7M747-1" }, { "uniprot_canonical_ac": "Q7TSK2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 991, "chemical_mass": 107433.0, "gene_names": "Sez6;BSRP-C;D11Bhm177e;Kiaa4158;Sez6;sez-6", "protein_name": "Seizure protein 6", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "pmid": "" }, { "name": "apical dendrite", "id": "GO:0097440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097440", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "pmid": "" } ], "biological_process": [ { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "pmid": "" }, { "name": "activation of protein kinase C activity", "id": "GO:1990051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990051", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "pmid": "" }, { "name": "cerebellar Purkinje cell layer development", "id": "GO:0021680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021680", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "pmid": "" }, { "name": "negative regulation of dendrite development", "id": "GO:2000171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000171", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "pmid": "" }, { "name": "positive regulation of dendrite development", "id": "GO:1900006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900006", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "pmid": "" }, { "name": "synapse maturation", "id": "GO:0060074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060074", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "pmid": "" }, { "name": "regulation of dendrite development", "id": "GO:0050773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050773", "evidence": [ { "database": "UniProtKB", "id": "Q7TSK2", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TSK2-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Thr122", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 122, "start_aa": "Thr", "end_pos": 122, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr122", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q7TSK2-1", "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": "Q7TSK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q7TSK2-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Asn396", "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": 396, "start_aa": "Asn", "end_pos": 396, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn396", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2693", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2693" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "Q7TSK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q7TSK2-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Asn433", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 433, "start_aa": "Asn", "end_pos": 433, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn433", "evidence": [ { "id": "Q7TSK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q7TSK2-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Thr47", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 47, "start_aa": "Thr", "end_pos": 47, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr47", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q7TSK2-1", "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": "Q7TSK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7TSK2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q7TSK2-1", "start_pos": "704", "end_pos": "704", "site_lbl": "Asn704", "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": "NDTCPELPEIPNGWK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 704, "start_aa": "Asn", "end_pos": 704, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn704", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q7TSK2-1", "start_pos": "674", "end_pos": "674", "site_lbl": "Asp674", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "11", "chr_pos": "77865384", "evidence": [ { "id": "rs3402441807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402441807" } ] } ] }, { "uniprot_canonical_ac": "Q7TSK2-1", "start_pos": "720", "end_pos": "720", "site_lbl": "Pro720", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "11", "chr_pos": "77866032", "evidence": [ { "id": "rs3389176976", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389176976" } ] } ] } ], "record_id": "Q7TSK2-1" }, { "uniprot_canonical_ac": "Q7TST3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TST3", "url": "https://www.uniprot.org/uniprotkb/Q7TST3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 202, "chemical_mass": 22761.0, "gene_names": "Samd10;D930033N23Rik;E130318E08;Samd10", "protein_name": "Sterile alpha motif domain-containing protein 10", "disease": [], "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": "Q7TST3", "url": "https://www.uniprot.org/uniprotkb/Q7TST3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "Q7TST3", "url": "https://www.uniprot.org/uniprotkb/Q7TST3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7TST3-1" }, { "uniprot_canonical_ac": "Q80VA5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80VA5", "url": "https://www.uniprot.org/uniprotkb/Q80VA5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1289, "chemical_mass": 145144.0, "gene_names": "Sh3tc2;D430044G18Rik;Kiaa1985;Sh3tc2", "protein_name": "SH3 domain and tetratricopeptide repeat-containing protein 2", "disease": [ { "disease_id": "DOID:0110183", "name": "Charcot-Marie-Tooth disease type 4C", "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene.", "url": "https://disease-ontology.org/term/DOID:0110183", "evidence": [ { "id": "0110183", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110183" } ], "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": "Q80VA5", "url": "https://www.uniprot.org/uniprotkb/Q80VA5" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q80VA5", "url": "https://www.uniprot.org/uniprotkb/Q80VA5" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q80VA5", "url": "https://www.uniprot.org/uniprotkb/Q80VA5" } ], "pmid": "" } ], "biological_process": [ { "name": "myelination in peripheral nervous system", "id": "GO:0022011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022011", "evidence": [ { "database": "UniProtKB", "id": "Q80VA5", "url": "https://www.uniprot.org/uniprotkb/Q80VA5" } ], "pmid": "" }, { "name": "peripheral nervous system myelin maintenance", "id": "GO:0032287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032287", "evidence": [ { "database": "UniProtKB", "id": "Q80VA5", "url": "https://www.uniprot.org/uniprotkb/Q80VA5" } ], "pmid": "" }, { "name": "regulation of intracellular protein transport", "id": "GO:0033157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033157", "evidence": [ { "database": "UniProtKB", "id": "Q80VA5", "url": "https://www.uniprot.org/uniprotkb/Q80VA5" } ], "pmid": "" }, { "name": "regulation of ERBB signaling pathway", "id": "GO:1901184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901184", "evidence": [ { "database": "UniProtKB", "id": "Q80VA5", "url": "https://www.uniprot.org/uniprotkb/Q80VA5" } ], "pmid": "" }, { "name": "regulation of endocytic recycling", "id": "GO:2001135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001135", "evidence": [ { "database": "UniProtKB", "id": "Q80VA5", "url": "https://www.uniprot.org/uniprotkb/Q80VA5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80VA5-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Gly2", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Loss of myristoylation. The mutant does not localize to the cell membrane.", "evidence": [ { "database": "UniProtKB", "id": "Q80VA5", "url": "https://www.uniprot.org/uniprotkb/Q80VA5" }, { "database": "PubMed", "id": "19805030", "url": "https://glygen.org/publication/PubMed/19805030" } ] } ] } ], "record_id": "Q80VA5-1" }, { "uniprot_canonical_ac": "Q8BGF8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGF8", "url": "https://www.uniprot.org/uniprotkb/Q8BGF8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 422, "chemical_mass": 44917.0, "gene_names": "Slc35d3;6230421J19Rik;Frcl1;Slc35d3", "protein_name": "Solute carrier family 35 member D3", "disease": [], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q8BGF8", "url": "https://www.uniprot.org/uniprotkb/Q8BGF8" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8BGF8", "url": "https://www.uniprot.org/uniprotkb/Q8BGF8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8BGF8", "url": "https://www.uniprot.org/uniprotkb/Q8BGF8" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8BGF8", "url": "https://www.uniprot.org/uniprotkb/Q8BGF8" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q8BGF8", "url": "https://www.uniprot.org/uniprotkb/Q8BGF8" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q8BGF8", "url": "https://www.uniprot.org/uniprotkb/Q8BGF8" } ], "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": "Q8BGF8", "url": "https://www.uniprot.org/uniprotkb/Q8BGF8" } ], "pmid": "" }, { "name": "antiporter activity", "id": "GO:0015297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "database": "UniProtKB", "id": "Q8BGF8", "url": "https://www.uniprot.org/uniprotkb/Q8BGF8" } ], "pmid": "" }, { "name": "UDP-glucose transmembrane transporter activity", "id": "GO:0005460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005460", "evidence": [ { "database": "UniProtKB", "id": "Q8BGF8", "url": "https://www.uniprot.org/uniprotkb/Q8BGF8" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q8BGF8", "url": "https://www.uniprot.org/uniprotkb/Q8BGF8" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "Q8BGF8", "url": "https://www.uniprot.org/uniprotkb/Q8BGF8" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q8BGF8", "url": "https://www.uniprot.org/uniprotkb/Q8BGF8" } ], "pmid": "" }, { "name": "platelet dense granule organization", "id": "GO:0060155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060155", "evidence": [ { "database": "UniProtKB", "id": "Q8BGF8", "url": "https://www.uniprot.org/uniprotkb/Q8BGF8" } ], "pmid": "" }, { "name": "positive regulation of protein exit from endoplasmic reticulum", "id": "GO:0070863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070863", "evidence": [ { "database": "UniProtKB", "id": "Q8BGF8", "url": "https://www.uniprot.org/uniprotkb/Q8BGF8" } ], "pmid": "" }, { "name": "UDP-glucose transmembrane transport", "id": "GO:0015786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015786", "evidence": [ { "database": "UniProtKB", "id": "Q8BGF8", "url": "https://www.uniprot.org/uniprotkb/Q8BGF8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BGF8-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Gly219", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "10", "chr_pos": "19725200", "evidence": [ { "id": "rs3389100582", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389100582" } ] } ] }, { "uniprot_canonical_ac": "Q8BGF8-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Lys340", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "10", "chr_pos": "19724837", "evidence": [ { "id": "rs229636375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229636375" } ] } ] }, { "uniprot_canonical_ac": "Q8BGF8-1", "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: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "10", "chr_pos": "19724833", "evidence": [ { "id": "rs3547699302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547699302" } ] } ] }, { "uniprot_canonical_ac": "Q8BGF8-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Gly342", "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": "10", "chr_pos": "19724831", "evidence": [ { "id": "rs3389090519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389090519" } ] } ] }, { "uniprot_canonical_ac": "Q8BGF8-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Asn343", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "10", "chr_pos": "19724827", "evidence": [ { "id": "rs264929496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264929496" } ] } ] }, { "uniprot_canonical_ac": "Q8BGF8-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Ser348", "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": "10", "chr_pos": "19724813_19724814insACCTCAACCATCAC", "evidence": [ { "id": "rs3410289524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410289524" } ] } ] }, { "uniprot_canonical_ac": "Q8BGF8-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Ala349", "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": "10", "chr_pos": "19724809", "evidence": [ { "id": "rs3389090581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389090581" } ] } ] }, { "uniprot_canonical_ac": "Q8BGF8-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Ala373", "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": "10", "chr_pos": "19724737", "evidence": [ { "id": "rs46508281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46508281" } ] } ] }, { "uniprot_canonical_ac": "Q8BGF8-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Arg378", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "10", "chr_pos": "19724722", "evidence": [ { "id": "rs229558548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229558548" } ] } ] }, { "uniprot_canonical_ac": "Q8BGF8-1", "start_pos": "390", "end_pos": "390", "site_lbl": "Ser390", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "10", "chr_pos": "19724686", "evidence": [ { "id": "rs3389064385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389064385" } ] } ] }, { "uniprot_canonical_ac": "Q8BGF8-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Glu415", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "10", "chr_pos": "19724612", "evidence": [ { "id": "rs3389092678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389092678" } ] } ] }, { "uniprot_canonical_ac": "Q8BGF8-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Ser421", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "10", "chr_pos": "19724592", "evidence": [ { "id": "rs3389090587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389090587" } ] } ] }, { "uniprot_canonical_ac": "Q8BGF8-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Val44", "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": "10", "chr_pos": "19726639", "evidence": [ { "id": "rs3547722640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547722640" } ] } ] } ], "record_id": "Q8BGF8-1" }, { "uniprot_canonical_ac": "Q8BGH2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGH2", "url": "https://www.uniprot.org/uniprotkb/Q8BGH2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 469, "chemical_mass": 51864.0, "gene_names": "Samm50;1110030L07Rik;Samm50", "protein_name": "Sorting and assembly machinery component 50 homolog", "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": "SAM complex", "id": "GO:0001401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001401", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH2", "url": "https://www.uniprot.org/uniprotkb/Q8BGH2" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH2", "url": "https://www.uniprot.org/uniprotkb/Q8BGH2" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH2", "url": "https://www.uniprot.org/uniprotkb/Q8BGH2" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH2", "url": "https://www.uniprot.org/uniprotkb/Q8BGH2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH2", "url": "https://www.uniprot.org/uniprotkb/Q8BGH2" } ], "pmid": "" } ], "biological_process": [ { "name": "protein insertion into mitochondrial outer membrane", "id": "GO:0045040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045040", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH2", "url": "https://www.uniprot.org/uniprotkb/Q8BGH2" } ], "pmid": "" }, { "name": "cristae formation", "id": "GO:0042407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042407", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH2", "url": "https://www.uniprot.org/uniprotkb/Q8BGH2" } ], "pmid": "" }, { "name": "protein import into mitochondrial matrix", "id": "GO:0030150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030150", "evidence": [ { "database": "UniProtKB", "id": "Q8BGH2", "url": "https://www.uniprot.org/uniprotkb/Q8BGH2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BGH2-1" }, { "uniprot_canonical_ac": "Q8BHJ6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BHJ6", "url": "https://www.uniprot.org/uniprotkb/Q8BHJ6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 461, "chemical_mass": 51831.0, "gene_names": "Serinc5;A130038L21Rik;AIGP3;Aigp3;Serinc5;TPO1", "protein_name": "Serine incorporator 5", "disease": [], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8BHJ6", "url": "https://www.uniprot.org/uniprotkb/Q8BHJ6" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8BHJ6", "url": "https://www.uniprot.org/uniprotkb/Q8BHJ6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BHJ6", "url": "https://www.uniprot.org/uniprotkb/Q8BHJ6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BHJ6", "url": "https://www.uniprot.org/uniprotkb/Q8BHJ6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BHJ6", "url": "https://www.uniprot.org/uniprotkb/Q8BHJ6" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "Q8BHJ6", "url": "https://www.uniprot.org/uniprotkb/Q8BHJ6" } ], "pmid": "" } ], "biological_process": [ { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q8BHJ6", "url": "https://www.uniprot.org/uniprotkb/Q8BHJ6" } ], "pmid": "" }, { "name": "plasma membrane phospholipid scrambling", "id": "GO:0017121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017121", "evidence": [ { "database": "UniProtKB", "id": "Q8BHJ6", "url": "https://www.uniprot.org/uniprotkb/Q8BHJ6" } ], "pmid": "" }, { "name": "phospholipid biosynthetic process", "id": "GO:0008654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008654", "evidence": [ { "database": "UniProtKB", "id": "Q8BHJ6", "url": "https://www.uniprot.org/uniprotkb/Q8BHJ6" } ], "pmid": "" }, { "name": "phosphatidylserine metabolic process", "id": "GO:0006658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006658", "evidence": [ { "database": "UniProtKB", "id": "Q8BHJ6", "url": "https://www.uniprot.org/uniprotkb/Q8BHJ6" } ], "pmid": "" }, { "name": "antiviral innate immune response", "id": "GO:0140374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140374", "evidence": [ { "database": "UniProtKB", "id": "Q8BHJ6", "url": "https://www.uniprot.org/uniprotkb/Q8BHJ6" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipid scramblase activity", "id": "GO:0017128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017128", "evidence": [ { "database": "UniProtKB", "id": "Q8BHJ6", "url": "https://www.uniprot.org/uniprotkb/Q8BHJ6" } ], "pmid": "" }, { "name": "acetyltransferase activator activity", "id": "GO:0010698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010698", "evidence": [ { "database": "UniProtKB", "id": "Q8BHJ6", "url": "https://www.uniprot.org/uniprotkb/Q8BHJ6" } ], "pmid": "" }, { "name": "molecular carrier activity", "id": "GO:0140104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140104", "evidence": [ { "database": "UniProtKB", "id": "Q8BHJ6", "url": "https://www.uniprot.org/uniprotkb/Q8BHJ6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BHJ6-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Asn114", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q8BHJ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BHJ6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BHJ6-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Asn184", "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": "NWTAGTVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 184, "start_aa": "Asn", "end_pos": 184, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn184", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 184, "start_aa": "Asn", "end_pos": 184, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn184", "evidence": [ { "id": "Q8BHJ6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BHJ6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BHJ6-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Asn295", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G70441OD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VLDEHGKNVTICAPDFGQDLHR", "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" } ] } ] } ], "record_id": "Q8BHJ6-1" }, { "uniprot_canonical_ac": "Q8BI29-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BI29", "url": "https://www.uniprot.org/uniprotkb/Q8BI29" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 606, "chemical_mass": 65092.0, "gene_names": "Sarg;AA986860;E030025M07;Sarg", "protein_name": "Specifically androgen-regulated gene protein", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BI29", "url": "https://www.uniprot.org/uniprotkb/Q8BI29" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BI29", "url": "https://www.uniprot.org/uniprotkb/Q8BI29" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BI29", "url": "https://www.uniprot.org/uniprotkb/Q8BI29" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BI29-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Ser130", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI29", "url": "https://www.uniprot.org/uniprotkb/Q8BI29" } ] } ] }, { "uniprot_canonical_ac": "Q8BI29-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Ser132", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI29", "url": "https://www.uniprot.org/uniprotkb/Q8BI29" } ] } ] }, { "uniprot_canonical_ac": "Q8BI29-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Thr334", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI29", "url": "https://www.uniprot.org/uniprotkb/Q8BI29" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BI29", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BI29" } ] } ] }, { "uniprot_canonical_ac": "Q8BI29-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Ser397", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI29", "url": "https://www.uniprot.org/uniprotkb/Q8BI29" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BI29", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BI29" } ] } ] }, { "uniprot_canonical_ac": "Q8BI29-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Ser412", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI29", "url": "https://www.uniprot.org/uniprotkb/Q8BI29" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BI29", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BI29" } ] } ] }, { "uniprot_canonical_ac": "Q8BI29-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Ser524", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI29", "url": "https://www.uniprot.org/uniprotkb/Q8BI29" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BI29", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BI29" } ] } ] } ], "record_id": "Q8BI29-1" }, { "uniprot_canonical_ac": "Q8BN82-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 495, "chemical_mass": 54369.0, "gene_names": "Slc17a5;4631416G20Rik;4732491M05;AST;ISSD;NSD;SD;SIALIN;SIASD;SLD;Slc17a5;VEAT", "protein_name": "Sialin", "disease": [ { "disease_id": "DOID:3211", "name": "lysosomal storage disease", "description": "An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.", "url": "https://disease-ontology.org/term/DOID:3211", "evidence": [ { "id": "3211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3211" } ], "weight": 0.0 }, { "disease_id": "DOID:3659", "name": "sialuria", "description": "A lysosomal storage disease characterized by increased sialic acid in the urine.", "url": "https://disease-ontology.org/term/DOID:3659", "evidence": [ { "id": "3659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3659" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "sialic acid transmembrane transporter activity", "id": "GO:0015136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015136", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" } ], "pmid": "" }, { "name": "symporter activity", "id": "GO:0015293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015293", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" } ], "pmid": "" }, { "name": "D-glucuronate transmembrane transporter activity", "id": "GO:0042880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042880", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" } ], "pmid": "" } ], "biological_process": [ { "name": "sialic acid transport", "id": "GO:0015739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015739", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" } ], "pmid": "" }, { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" } ], "pmid": "" }, { "name": "neurotransmitter loading into synaptic vesicle", "id": "GO:0098700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098700", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Asn71", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 71, "start_aa": "Asn", "end_pos": 71, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn71", "evidence": [ { "id": "Q8BN82", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BN82#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "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": "Q8BN82", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BN82#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "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": "Q8BN82", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BN82#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Asp12", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "78495216", "evidence": [ { "id": "rs3389057957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389057957" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Lys197", "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": "9", "chr_pos": "78481956", "evidence": [ { "id": "rs3400389882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400389882" } ] }, { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "78481955", "evidence": [ { "id": "rs3399821509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399821509" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Thr200", "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": "9", "chr_pos": "78481947", "evidence": [ { "id": "rs3400295601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400295601" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Ile219", "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": "9", "chr_pos": "78478349", "evidence": [ { "id": "rs226911335", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226911335" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Ile238", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "78468076", "evidence": [ { "id": "rs3389063720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389063720" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ile247", "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": "9", "chr_pos": "78468050", "evidence": [ { "id": "rs50472423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50472423" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Tyr265", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "78467994", "evidence": [ { "id": "rs3399821541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399821541" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Lys287", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "78466411", "evidence": [ { "id": "rs3389068534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389068534" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Phe329", "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": "9", "chr_pos": "78464863", "evidence": [ { "id": "rs3389062587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389062587" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Tyr335", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "78464845", "evidence": [ { "id": "rs3389057992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389057992" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Val370", "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": "9", "chr_pos": "78464742", "evidence": [ { "id": "rs228099082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228099082" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Val393", "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": "9", "chr_pos": "78460298", "evidence": [ { "id": "rs3389057770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389057770" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "400", "end_pos": "400", "site_lbl": "Thr400", "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": "9", "chr_pos": "78460276", "evidence": [ { "id": "rs3389057739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389057739" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Phe405", "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": "9", "chr_pos": "78460260", "evidence": [ { "id": "rs3400513864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400513864" } ] }, { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "78460262", "evidence": [ { "id": "rs3400388810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400388810" } ] }, { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "78460261", "evidence": [ { "id": "rs3400187599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400187599" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Thr431", "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": "9", "chr_pos": "78448240", "evidence": [ { "id": "rs3400379715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400379715" } ] }, { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "78448239", "evidence": [ { "id": "rs3400360975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400360975" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Gly437", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "78448221", "evidence": [ { "id": "rs3389063772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389063772" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Thr439", "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": "9", "chr_pos": "78448216", "evidence": [ { "id": "rs3389062797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389062797" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Ile442", "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": "9", "chr_pos": "78448207", "evidence": [ { "id": "rs3400474168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400474168" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Leu45", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "78485950", "evidence": [ { "id": "rs3389062825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389062825" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Phe47", "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": "9", "chr_pos": "78485944", "evidence": [ { "id": "rs3389062565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389062565" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Trp485", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "78445479", "evidence": [ { "id": "rs3389057958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389057958" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Arg78", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "78485851", "evidence": [ { "id": "rs3389053801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053801" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Ser80", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "78485846", "evidence": [ { "id": "rs3389057749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389057749" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Ala88", "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": "9", "chr_pos": "78485821", "evidence": [ { "id": "rs48710467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48710467" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "183", "end_pos": "183", "site_lbl": "His183", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Abolishes sialic acid transporter activity. Does not affect L-aspartate and L-glutamate transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" }, { "database": "PubMed", "id": "18695252", "url": "https://glygen.org/publication/PubMed/18695252" } ] } ] }, { "uniprot_canonical_ac": "Q8BN82-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Arg39", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Completely abolishes L-aspartate and L-glutamate transporter activity. Retains appreciable H(+)-coupled sialic acid transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BN82", "url": "https://www.uniprot.org/uniprotkb/Q8BN82" }, { "database": "PubMed", "id": "18695252", "url": "https://glygen.org/publication/PubMed/18695252" } ] } ] } ], "record_id": "Q8BN82-1" }, { "uniprot_canonical_ac": "Q8BPX9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BPX9", "url": "https://www.uniprot.org/uniprotkb/Q8BPX9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 578, "chemical_mass": 64051.0, "gene_names": "Slc15a3;Ci1;Pht2;Slc15a3;cI-1", "protein_name": "Solute carrier family 15 member 3", "disease": [], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q8BPX9", "url": "https://www.uniprot.org/uniprotkb/Q8BPX9" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8BPX9", "url": "https://www.uniprot.org/uniprotkb/Q8BPX9" } ], "pmid": "" }, { "name": "dipeptide import across plasma membrane", "id": "GO:0140206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140206", "evidence": [ { "database": "UniProtKB", "id": "Q8BPX9", "url": "https://www.uniprot.org/uniprotkb/Q8BPX9" } ], "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": "Q8BPX9", "url": "https://www.uniprot.org/uniprotkb/Q8BPX9" } ], "pmid": "" }, { "name": "peptidoglycan transport", "id": "GO:0015835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015835", "evidence": [ { "database": "UniProtKB", "id": "Q8BPX9", "url": "https://www.uniprot.org/uniprotkb/Q8BPX9" } ], "pmid": "" } ], "cellular_component": [ { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q8BPX9", "url": "https://www.uniprot.org/uniprotkb/Q8BPX9" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q8BPX9", "url": "https://www.uniprot.org/uniprotkb/Q8BPX9" } ], "pmid": "" } ], "molecular_function": [ { "name": "symporter activity", "id": "GO:0015293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015293", "evidence": [ { "database": "UniProtKB", "id": "Q8BPX9", "url": "https://www.uniprot.org/uniprotkb/Q8BPX9" } ], "pmid": "" }, { "name": "dipeptide transmembrane transporter activity", "id": "GO:0071916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071916", "evidence": [ { "database": "UniProtKB", "id": "Q8BPX9", "url": "https://www.uniprot.org/uniprotkb/Q8BPX9" } ], "pmid": "" }, { "name": "peptidoglycan transmembrane transporter activity", "id": "GO:0015647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015647", "evidence": [ { "database": "UniProtKB", "id": "Q8BPX9", "url": "https://www.uniprot.org/uniprotkb/Q8BPX9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BPX9-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Asn223", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 223, "start_aa": "Asn", "end_pos": 223, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn223", "evidence": [ { "id": "Q8BPX9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BPX9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BPX9-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Asn353", "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": "TNPNISLLLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 353, "start_aa": "Asn", "end_pos": 353, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn353", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 353, "start_aa": "Asn", "end_pos": 353, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn353", "evidence": [ { "id": "Q8BPX9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BPX9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BPX9-1", "start_pos": "436", "end_pos": "436", "site_lbl": "Asn436", "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": "LQYIAANQTVPQLIGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 436, "start_aa": "Asn", "end_pos": 436, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn436", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 436, "start_aa": "Asn", "end_pos": 436, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn436", "evidence": [ { "id": "Q8BPX9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BPX9#ptm_processing" } ] } ] } ], "record_id": "Q8BPX9-1" }, { "uniprot_canonical_ac": "Q8BTH6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BTH6", "url": "https://www.uniprot.org/uniprotkb/Q8BTH6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 311, "chemical_mass": 32722.0, "gene_names": "Scrt2;Scrt2", "protein_name": "Transcriptional repressor scratch 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": "Q8BTH6", "url": "https://www.uniprot.org/uniprotkb/Q8BTH6" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8BTH6", "url": "https://www.uniprot.org/uniprotkb/Q8BTH6" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8BTH6", "url": "https://www.uniprot.org/uniprotkb/Q8BTH6" } ], "pmid": "" }, { "name": "regulation of neuron migration", "id": "GO:2001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001222", "evidence": [ { "database": "UniProtKB", "id": "Q8BTH6", "url": "https://www.uniprot.org/uniprotkb/Q8BTH6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BTH6", "url": "https://www.uniprot.org/uniprotkb/Q8BTH6" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8BTH6", "url": "https://www.uniprot.org/uniprotkb/Q8BTH6" } ], "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": "Q8BTH6", "url": "https://www.uniprot.org/uniprotkb/Q8BTH6" } ], "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": "Q8BTH6", "url": "https://www.uniprot.org/uniprotkb/Q8BTH6" } ], "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": "Q8BTH6", "url": "https://www.uniprot.org/uniprotkb/Q8BTH6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BTH6-1" }, { "uniprot_canonical_ac": "Q8C6I2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C6I2", "url": "https://www.uniprot.org/uniprotkb/Q8C6I2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 164, "chemical_mass": 19431.0, "gene_names": "Sdhaf2;0610038F07Rik;PGL2;Pgl2;SDH5;SDHAF2;Sdh5;Sdhaf2", "protein_name": "Succinate dehydrogenase assembly factor 2, mitochondrial", "disease": [ { "disease_id": "DOID:0061217", "name": "pheochromocytoma/paraganglioma syndrome 2", "description": "A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHAF2 gene.", "url": "https://disease-ontology.org/term/DOID:0061217", "evidence": [ { "id": "0061217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061217" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8C6I2", "url": "https://www.uniprot.org/uniprotkb/Q8C6I2" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8C6I2", "url": "https://www.uniprot.org/uniprotkb/Q8C6I2" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q8C6I2", "url": "https://www.uniprot.org/uniprotkb/Q8C6I2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C6I2", "url": "https://www.uniprot.org/uniprotkb/Q8C6I2" } ], "pmid": "" } ], "biological_process": [ { "name": "tricarboxylic acid cycle", "id": "GO:0006099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006099", "evidence": [ { "database": "UniProtKB", "id": "Q8C6I2", "url": "https://www.uniprot.org/uniprotkb/Q8C6I2" } ], "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": "Q8C6I2", "url": "https://www.uniprot.org/uniprotkb/Q8C6I2" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "Q8C6I2", "url": "https://www.uniprot.org/uniprotkb/Q8C6I2" } ], "pmid": "" }, { "name": "mitochondrial electron transport, succinate to ubiquinone", "id": "GO:0006121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006121", "evidence": [ { "database": "UniProtKB", "id": "Q8C6I2", "url": "https://www.uniprot.org/uniprotkb/Q8C6I2" } ], "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": "Q8C6I2", "url": "https://www.uniprot.org/uniprotkb/Q8C6I2" } ], "pmid": "" }, { "name": "protein-FAD linkage", "id": "GO:0018293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018293", "evidence": [ { "database": "UniProtKB", "id": "Q8C6I2", "url": "https://www.uniprot.org/uniprotkb/Q8C6I2" } ], "pmid": "" }, { "name": "mitochondrial respiratory chain complex II assembly", "id": "GO:0034553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034553", "evidence": [ { "database": "UniProtKB", "id": "Q8C6I2", "url": "https://www.uniprot.org/uniprotkb/Q8C6I2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8C6I2-1" }, { "uniprot_canonical_ac": "Q8C811-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C811", "url": "https://www.uniprot.org/uniprotkb/Q8C811" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 405, "chemical_mass": 44279.0, "gene_names": "Slc35e2a;A530082C11Rik;Slc35e2a;Slc35e2", "protein_name": "Solute carrier family 35 member E2A", "disease": [], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8C811", "url": "https://www.uniprot.org/uniprotkb/Q8C811" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8C811", "url": "https://www.uniprot.org/uniprotkb/Q8C811" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q8C811", "url": "https://www.uniprot.org/uniprotkb/Q8C811" } ], "pmid": "" } ], "molecular_function": [ { "name": "antiporter activity", "id": "GO:0015297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "database": "UniProtKB", "id": "Q8C811", "url": "https://www.uniprot.org/uniprotkb/Q8C811" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8C811-1" }, { "uniprot_canonical_ac": "Q8CAK3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 290, "chemical_mass": 33015.0, "gene_names": "Shfl;A230050P20Rik;RyDEN;Ryden;Shfl", "protein_name": "Shiftless antiviral inhibitor of ribosomal frameshifting protein homolog", "disease": [], "molecular_function": [ { "name": "sequence-specific mRNA binding", "id": "GO:1990825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990825", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" }, { "name": "ribosome binding", "id": "GO:0043022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043022", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of translational termination", "id": "GO:0006449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006449", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" }, { "name": "negative regulation of viral genome replication", "id": "GO:0045071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045071", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" }, { "name": "response to type II interferon", "id": "GO:0034341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" }, { "name": "response to interferon-beta", "id": "GO:0035456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035456", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" }, { "name": "response to type I interferon", "id": "GO:0034340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034340", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" }, { "name": "response to type III interferon", "id": "GO:0034342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034342", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" }, { "name": "viral translational frameshifting", "id": "GO:0075523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0075523", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" }, { "name": "negative regulation of translational frameshifting", "id": "GO:2001125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001125", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q8CAK3", "url": "https://www.uniprot.org/uniprotkb/Q8CAK3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8CAK3-1" }, { "uniprot_canonical_ac": "Q8QZV2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8QZV2", "url": "https://www.uniprot.org/uniprotkb/Q8QZV2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 295, "chemical_mass": 31466.0, "gene_names": "Shisa2;9430059P22Rik;MAd2;Shisa2;Shisa;Tmem46;mShisa;shisa", "protein_name": "Protein shisa-2 homolog", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8QZV2", "url": "https://www.uniprot.org/uniprotkb/Q8QZV2" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8QZV2", "url": "https://www.uniprot.org/uniprotkb/Q8QZV2" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of Wnt signaling pathway", "id": "GO:0030178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030178", "evidence": [ { "database": "UniProtKB", "id": "Q8QZV2", "url": "https://www.uniprot.org/uniprotkb/Q8QZV2" } ], "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": "Q8QZV2", "url": "https://www.uniprot.org/uniprotkb/Q8QZV2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8QZV2-1", "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": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8QZV2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8QZV2" } ] } ] } ], "record_id": "Q8QZV2-1" }, { "uniprot_canonical_ac": "Q8R0F9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R0F9", "url": "https://www.uniprot.org/uniprotkb/Q8R0F9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 403, "chemical_mass": 46053.0, "gene_names": "Sec14l4;SPF;Sec14l4;TAP", "protein_name": "SEC14-like protein 4", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R0F9", "url": "https://www.uniprot.org/uniprotkb/Q8R0F9" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q8R0F9", "url": "https://www.uniprot.org/uniprotkb/Q8R0F9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8R0F9-1" }, { "uniprot_canonical_ac": "Q8R1S9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 547, "chemical_mass": 60464.0, "gene_names": "Slc38a4;1110012E16Rik;1700012A18Rik;Ata3;Nat3;SNAT4;Slc38a4;Snat4;mATA3;mNAT3", "protein_name": "Sodium-coupled neutral amino acid transporter 4", "disease": [], "biological_process": [ { "name": "L-alanine transmembrane transport", "id": "GO:1904557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904557", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" } ], "pmid": "" }, { "name": "neutral amino acid transport", "id": "GO:0015804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015804", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" } ], "pmid": "" }, { "name": "amino acid transmembrane transport", "id": "GO:0003333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003333", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" } ], "pmid": "" }, { "name": "L-arginine transmembrane transport", "id": "GO:1903826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903826", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" } ], "pmid": "" }, { "name": "L-alanine import across plasma membrane", "id": "GO:1904273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904273", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" } ], "pmid": "" } ], "molecular_function": [ { "name": "L-amino acid transmembrane transporter activity", "id": "GO:0015179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015179", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" } ], "pmid": "" }, { "name": "amino acid transmembrane transporter activity", "id": "GO:0015171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015171", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" } ], "pmid": "" }, { "name": "amino acid:sodium symporter activity", "id": "GO:0005283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005283", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" } ], "pmid": "" }, { "name": "L-arginine transmembrane transporter activity", "id": "GO:0061459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061459", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" } ], "pmid": "" }, { "name": "neutral L-amino acid:sodium symporter activity", "id": "GO:0005295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005295", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" } ], "pmid": "" }, { "name": "alanine:sodium symporter activity", "id": "GO:0015655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015655", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" } ], "pmid": "" }, { "name": "microvillus membrane", "id": "GO:0031528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031528", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R1S9-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Asn260", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 260, "start_aa": "Asn", "end_pos": 260, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn260", "evidence": [ { "id": "Q8R1S9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R1S9-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Asn264", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 264, "start_aa": "Asn", "end_pos": 264, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn264", "evidence": [ { "id": "Q8R1S9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NNT->SNT).", "chr_id": "15", "chr_pos": "96906946", "evidence": [ { "id": "rs3412972901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412972901" } ] } ] }, { "uniprot_canonical_ac": "Q8R1S9-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Asn276", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 276, "start_aa": "Asn", "end_pos": 276, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn276", "evidence": [ { "id": "Q8R1S9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R1S9-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Ser49", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" } ] } ] }, { "uniprot_canonical_ac": "Q8R1S9-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Ser278", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDS->NDP).", "chr_id": "15", "chr_pos": "96906905", "evidence": [ { "id": "rs3389337199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389337199" } ] } ] }, { "uniprot_canonical_ac": "Q8R1S9-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Cys18", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No significant effect on alanine uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" }, { "database": "PubMed", "id": "23451088", "url": "https://glygen.org/publication/PubMed/23451088" } ] } ] }, { "uniprot_canonical_ac": "Q8R1S9-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Cys232", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "40% decrease in alanine uptake. Significantly decreases alanine transporter activity. Does not affect cell surface expression.", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" }, { "database": "PubMed", "id": "23301202", "url": "https://glygen.org/publication/PubMed/23301202" }, { "database": "PubMed", "id": "23451088", "url": "https://glygen.org/publication/PubMed/23451088" } ] } ] }, { "uniprot_canonical_ac": "Q8R1S9-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Cys249", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes transport activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" }, { "database": "PubMed", "id": "23451088", "url": "https://glygen.org/publication/PubMed/23451088" } ] } ] }, { "uniprot_canonical_ac": "Q8R1S9-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Cys321", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes transport activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" }, { "database": "PubMed", "id": "23451088", "url": "https://glygen.org/publication/PubMed/23451088" } ] } ] }, { "uniprot_canonical_ac": "Q8R1S9-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Cys345", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No significant effect on alanine uptake. Does not affect alanine transport activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8R1S9", "url": "https://www.uniprot.org/uniprotkb/Q8R1S9" } ] } ] } ], "record_id": "Q8R1S9-1" }, { "uniprot_canonical_ac": "Q8VCA0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VCA0", "url": "https://www.uniprot.org/uniprotkb/Q8VCA0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 551, "chemical_mass": 60864.0, "gene_names": "Slc22a19;D630043A20Rik;OAT-5;Oat5;Slc22a19;Slc22a9", "protein_name": "Solute carrier family 22 member 19", "disease": [ { "disease_id": "DOID:0112182", "name": "mismatch repair cancer syndrome", "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.", "url": "https://disease-ontology.org/term/DOID:0112182", "evidence": [ { "id": "0112182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112182" } ], "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 } ], "biological_process": [ { "name": "monoatomic ion transport", "id": "GO:0006811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "evidence": [ { "database": "UniProtKB", "id": "Q8VCA0", "url": "https://www.uniprot.org/uniprotkb/Q8VCA0" } ], "pmid": "" }, { "name": "organic anion transport", "id": "GO:0015711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015711", "evidence": [ { "database": "UniProtKB", "id": "Q8VCA0", "url": "https://www.uniprot.org/uniprotkb/Q8VCA0" } ], "pmid": "" }, { "name": "sodium-independent organic anion transport", "id": "GO:0043252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043252", "evidence": [ { "database": "UniProtKB", "id": "Q8VCA0", "url": "https://www.uniprot.org/uniprotkb/Q8VCA0" } ], "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": "Q8VCA0", "url": "https://www.uniprot.org/uniprotkb/Q8VCA0" } ], "pmid": "" } ], "cellular_component": [ { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q8VCA0", "url": "https://www.uniprot.org/uniprotkb/Q8VCA0" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8VCA0", "url": "https://www.uniprot.org/uniprotkb/Q8VCA0" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q8VCA0", "url": "https://www.uniprot.org/uniprotkb/Q8VCA0" } ], "pmid": "" }, { "name": "toxin transmembrane transporter activity", "id": "GO:0019534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019534", "evidence": [ { "database": "UniProtKB", "id": "Q8VCA0", "url": "https://www.uniprot.org/uniprotkb/Q8VCA0" } ], "pmid": "" }, { "name": "secondary active transmembrane transporter activity", "id": "GO:0015291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015291", "evidence": [ { "database": "UniProtKB", "id": "Q8VCA0", "url": "https://www.uniprot.org/uniprotkb/Q8VCA0" } ], "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": "Q8VCA0", "url": "https://www.uniprot.org/uniprotkb/Q8VCA0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VCA0-1", "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": "Q8VCA0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VCA0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VCA0-1", "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": "Q8VCA0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VCA0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VCA0-1", "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": "Q8VCA0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VCA0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VCA0-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Asn62", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 62, "start_aa": "Asn", "end_pos": 62, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn62", "evidence": [ { "id": "Q8VCA0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VCA0#ptm_processing" } ] } ] } ], "record_id": "Q8VCA0-1" }, { "uniprot_canonical_ac": "Q8VHC3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VHC3", "url": "https://www.uniprot.org/uniprotkb/Q8VHC3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 145, "chemical_mass": 16378.0, "gene_names": "Selenom;1500040L08Rik;A230103K18;Selenom;Selm;Sepm", "protein_name": "Selenoprotein M", "disease": [], "biological_process": [ { "name": "corticosterone secretion", "id": "GO:0035934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035934", "evidence": [ { "database": "UniProtKB", "id": "Q8VHC3", "url": "https://www.uniprot.org/uniprotkb/Q8VHC3" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "Q8VHC3", "url": "https://www.uniprot.org/uniprotkb/Q8VHC3" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q8VHC3", "url": "https://www.uniprot.org/uniprotkb/Q8VHC3" } ], "pmid": "" }, { "name": "response to selenium ion", "id": "GO:0010269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010269", "evidence": [ { "database": "UniProtKB", "id": "Q8VHC3", "url": "https://www.uniprot.org/uniprotkb/Q8VHC3" } ], "pmid": "" }, { "name": "hormone metabolic process", "id": "GO:0042445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042445", "evidence": [ { "database": "UniProtKB", "id": "Q8VHC3", "url": "https://www.uniprot.org/uniprotkb/Q8VHC3" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8VHC3", "url": "https://www.uniprot.org/uniprotkb/Q8VHC3" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "Q8VHC3", "url": "https://www.uniprot.org/uniprotkb/Q8VHC3" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8VHC3", "url": "https://www.uniprot.org/uniprotkb/Q8VHC3" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8VHC3", "url": "https://www.uniprot.org/uniprotkb/Q8VHC3" } ], "pmid": "" } ], "molecular_function": [ { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q8VHC3", "url": "https://www.uniprot.org/uniprotkb/Q8VHC3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VHC3-1" }, { "uniprot_canonical_ac": "O08641-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08641", "url": "https://www.uniprot.org/uniprotkb/O08641" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 340, "chemical_mass": 37028.0, "gene_names": "Sh3yl1;Ray;Sh3yl1;YSC84", "protein_name": "SH3 domain-containing YSC84-like protein 1", "disease": [], "biological_process": [ { "name": "regulation of ruffle assembly", "id": "GO:1900027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900027", "evidence": [ { "database": "UniProtKB", "id": "O08641", "url": "https://www.uniprot.org/uniprotkb/O08641" } ], "pmid": "" }, { "name": "phosphatidylinositol biosynthetic process", "id": "GO:0006661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006661", "evidence": [ { "database": "UniProtKB", "id": "O08641", "url": "https://www.uniprot.org/uniprotkb/O08641" } ], "pmid": "" } ], "cellular_component": [ { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "O08641", "url": "https://www.uniprot.org/uniprotkb/O08641" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "O08641", "url": "https://www.uniprot.org/uniprotkb/O08641" } ], "pmid": "" }, { "name": "phosphatase binding", "id": "GO:0019902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019902", "evidence": [ { "database": "UniProtKB", "id": "O08641", "url": "https://www.uniprot.org/uniprotkb/O08641" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O08641-1" }, { "uniprot_canonical_ac": "E9Q9K8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2307, "chemical_mass": 254323.0, "gene_names": "Akap6;Akap6;Akapalpha;Akapbeta;PRKA", "protein_name": "A-kinase anchor protein 6", "disease": [ { "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: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 } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "adenylate cyclase binding", "id": "GO:0008179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008179", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "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": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "protein phosphatase 2A binding", "id": "GO:0051721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051721", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "protein kinase A binding", "id": "GO:0051018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051018", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "protein-membrane adaptor activity", "id": "GO:0043495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043495", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "cytoskeleton-nuclear membrane anchor activity", "id": "GO:0140444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140444", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of relaxation of cardiac muscle", "id": "GO:1901897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901897", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "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": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "action potential", "id": "GO:0001508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001508", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "regulation of membrane repolarization", "id": "GO:0060306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060306", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "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": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum", "id": "GO:0010880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010880", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "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": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "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": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "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": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "cellular response to epinephrine stimulus", "id": "GO:0071872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071872", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "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": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "protein-containing complex localization", "id": "GO:0031503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031503", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "cAMP/PKA signal transduction", "id": "GO:0141156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141156", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "regulation of cAMP/PKA signal transduction", "id": "GO:0141161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141161", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "junctional sarcoplasmic reticulum membrane", "id": "GO:0014701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014701", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "calcium channel complex", "id": "GO:0034704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034704", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "E9Q9K8", "url": "https://www.uniprot.org/uniprotkb/E9Q9K8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q9K8-1", "start_pos": "1711", "end_pos": "1711", "site_lbl": "Asn1711", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G63076JO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VPESNASFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1711, "start_aa": "Asn", "end_pos": 1711, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1711", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "E9Q9K8-1", "start_pos": "801", "end_pos": "801", "site_lbl": "Asn801", "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": "LDEFIQWLNEAMETTENWTPPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 801, "start_aa": "Asn", "end_pos": 801, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn801", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "E9Q9K8-1", "start_pos": "1941", "end_pos": "1941", "site_lbl": "Ser1941", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SVT->NVT).", "chr_id": "12", "chr_pos": "53188409", "evidence": [ { "id": "rs220688590", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220688590" } ] } ] } ], "record_id": "E9Q9K8-1" }, { "uniprot_canonical_ac": "E9PYD1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PYD1", "url": "https://www.uniprot.org/uniprotkb/E9PYD1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 344, "chemical_mass": 37272.0, "gene_names": "Fam98c;1110006G06Rik;B230110F21Rik;Fam98c", "protein_name": "", "disease": [], "cellular_component": [ { "name": "tRNA-splicing ligase complex", "id": "GO:0072669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072669", "evidence": [ { "database": "UniProtKB", "id": "E9PYD1", "url": "https://www.uniprot.org/uniprotkb/E9PYD1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PYD1-1" }, { "uniprot_canonical_ac": "Q924N4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1150, "chemical_mass": 127527.0, "gene_names": "Slc12a6;9530023I19Rik;KCC3;Kcc3;Slc12a6;gaxp", "protein_name": "Solute carrier family 12 member 6", "disease": [ { "disease_id": "DOID:0090003", "name": "agenesis of the corpus callosum with peripheral neuropathy", "description": "A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14.", "url": "https://disease-ontology.org/term/DOID:0090003", "evidence": [ { "id": "0090003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090003" } ], "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: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:2477", "name": "motor peripheral neuropathy", "description": "A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves.", "url": "https://disease-ontology.org/term/DOID:2477", "evidence": [ { "id": "2477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2477" } ], "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": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" }, { "name": "monoatomic ion transport", "id": "GO:0006811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" }, { "name": "cell volume homeostasis", "id": "GO:0006884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006884", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" }, { "name": "potassium ion homeostasis", "id": "GO:0055075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055075", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "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": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" }, { "name": "chloride ion homeostasis", "id": "GO:0055064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055064", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" }, { "name": "cellular hypotonic salinity response", "id": "GO:0071477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071477", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" }, { "name": "potassium ion transmembrane transporter activity", "id": "GO:0015079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015079", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" }, { "name": "potassium:chloride symporter activity", "id": "GO:0015379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015379", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Asn379", "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": 379, "start_aa": "Asn", "end_pos": 379, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn379", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2731", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2731" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SSFAPPHFPVCMLGNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 379, "start_aa": "Asn", "end_pos": 379, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn379", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 379, "start_aa": "Asn", "end_pos": 379, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn379", "evidence": [ { "id": "Q924N4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q924N4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Asn398", "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": 398, "start_aa": "Asn", "end_pos": 398, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn398", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2731", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2731" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EVDNMTVPSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 398, "start_aa": "Asn", "end_pos": 398, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn398", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 398, "start_aa": "Asn", "end_pos": 398, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn398", "evidence": [ { "id": "Q924N4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q924N4#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NMT->IMT).", "chr_id": "2", "chr_pos": "112172250", "evidence": [ { "id": "rs3388578415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388578415" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Asn411", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 411, "start_aa": "Asn", "end_pos": 411, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn411", "evidence": [ { "id": "Q924N4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q924N4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "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": "Q924N4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q924N4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "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": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q924N4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q924N4" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "1023", "end_pos": "1023", "site_lbl": "Ser1023", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "1029", "end_pos": "1029", "site_lbl": "Ser1029", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "1032", "end_pos": "1032", "site_lbl": "Ser1032", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "1048", "end_pos": "1048", "site_lbl": "Thr1048", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "1121", "end_pos": "1121", "site_lbl": "Tyr1121", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Ser120", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Ser148", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Ser32", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "736", "end_pos": "736", "site_lbl": "Ser736", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "778", "end_pos": "778", "site_lbl": "Thr778", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "981", "end_pos": "981", "site_lbl": "Ser981", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "991", "end_pos": "991", "site_lbl": "Thr991", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Constitutively enhanced potassium-chloride cotransport activity. Significant locomotor deficits.", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" }, { "database": "PubMed", "id": "27485015", "url": "https://glygen.org/publication/PubMed/27485015" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Ile430", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVI->NVT).", "chr_id": "2", "chr_pos": "112172346", "evidence": [ { "id": "rs27506466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27506466" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Arg207", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Loss of potassium-chloride cotransport activity in Xenopus laevis oocytes.", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" }, { "database": "PubMed", "id": "31439721", "url": "https://glygen.org/publication/PubMed/31439721" } ] }, { "sequence_org": "R", "sequence_mut": "H", "comment": "Loss of potassium-chloride cotransport activity in Xenopus laevis oocytes.", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" }, { "database": "PubMed", "id": "31439721", "url": "https://glygen.org/publication/PubMed/31439721" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Tyr283", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolished potassium-chloride cotransport.", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" }, { "database": "PubMed", "id": "31649201", "url": "https://glygen.org/publication/PubMed/31649201" } ] }, { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolished potassium-chloride cotransport.", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" }, { "database": "PubMed", "id": "31649201", "url": "https://glygen.org/publication/PubMed/31649201" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "495", "end_pos": "495", "site_lbl": "Ser495", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduced potassium-chloride cotransport.", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" }, { "database": "PubMed", "id": "31649201", "url": "https://glygen.org/publication/PubMed/31649201" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Thr497", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Abolished potassium-chloride cotransport.", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" }, { "database": "PubMed", "id": "31649201", "url": "https://glygen.org/publication/PubMed/31649201" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "654", "end_pos": "654", "site_lbl": "Tyr654", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolished potassium-chloride cotransport.", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" }, { "database": "PubMed", "id": "31649201", "url": "https://glygen.org/publication/PubMed/31649201" } ] }, { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolished potassium-chloride cotransport.", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" }, { "database": "PubMed", "id": "31649201", "url": "https://glygen.org/publication/PubMed/31649201" } ] } ] }, { "uniprot_canonical_ac": "Q924N4-1", "start_pos": "679", "end_pos": "679", "site_lbl": "Tyr679", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Reduced potassium-chloride cotransport activity in Xenopus laevis oocytes.", "evidence": [ { "database": "UniProtKB", "id": "Q924N4", "url": "https://www.uniprot.org/uniprotkb/Q924N4" }, { "database": "PubMed", "id": "31439721", "url": "https://glygen.org/publication/PubMed/31439721" } ] } ] } ], "record_id": "Q924N4-1" }, { "uniprot_canonical_ac": "Q8VI23-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VI23", "url": "https://www.uniprot.org/uniprotkb/Q8VI23" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 705, "chemical_mass": 77020.0, "gene_names": "Slc12a8;CCC9;Ccc9;E330020C02Rik;Slc12a8", "protein_name": "Solute carrier family 12 member 8", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VI23", "url": "https://www.uniprot.org/uniprotkb/Q8VI23" } ], "pmid": "" } ], "biological_process": [ { "name": "cell volume homeostasis", "id": "GO:0006884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006884", "evidence": [ { "database": "UniProtKB", "id": "Q8VI23", "url": "https://www.uniprot.org/uniprotkb/Q8VI23" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q8VI23", "url": "https://www.uniprot.org/uniprotkb/Q8VI23" } ], "pmid": "" }, { "name": "potassium ion homeostasis", "id": "GO:0055075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055075", "evidence": [ { "database": "UniProtKB", "id": "Q8VI23", "url": "https://www.uniprot.org/uniprotkb/Q8VI23" } ], "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": "Q8VI23", "url": "https://www.uniprot.org/uniprotkb/Q8VI23" } ], "pmid": "" }, { "name": "chloride ion homeostasis", "id": "GO:0055064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055064", "evidence": [ { "database": "UniProtKB", "id": "Q8VI23", "url": "https://www.uniprot.org/uniprotkb/Q8VI23" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "Q8VI23", "url": "https://www.uniprot.org/uniprotkb/Q8VI23" } ], "pmid": "" } ], "molecular_function": [ { "name": "potassium:chloride symporter activity", "id": "GO:0015379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015379", "evidence": [ { "database": "UniProtKB", "id": "Q8VI23", "url": "https://www.uniprot.org/uniprotkb/Q8VI23" } ], "pmid": "" }, { "name": "metal ion transmembrane transporter activity", "id": "GO:0046873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046873", "evidence": [ { "database": "UniProtKB", "id": "Q8VI23", "url": "https://www.uniprot.org/uniprotkb/Q8VI23" } ], "pmid": "" }, { "name": "chloride:monoatomic cation symporter activity", "id": "GO:0015377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015377", "evidence": [ { "database": "UniProtKB", "id": "Q8VI23", "url": "https://www.uniprot.org/uniprotkb/Q8VI23" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VI23-1" }, { "uniprot_canonical_ac": "Q9D174-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D174", "url": "https://www.uniprot.org/uniprotkb/Q9D174" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 77, "chemical_mass": 8873.0, "gene_names": "Ss18l2;1110020I04Rik;Deb1;Ss18l2", "protein_name": "SS18-like protein 2", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D174-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Thr20", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 20, "start_aa": "Thr", "end_pos": 20, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr20", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q9D174", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9D174" } ] } ] } ], "record_id": "Q9D174-1" }, { "uniprot_canonical_ac": "E9Q0S6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1888, "chemical_mass": 201383.0, "gene_names": "Tns1;1110018I21Rik;1200014E20Rik;E030018G17Rik;E030037J05Rik;Tns1;Tns", "protein_name": "Tensin-1", "disease": [ { "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 } ], "biological_process": [ { "name": "cell-substrate junction assembly", "id": "GO:0007044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007044", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ], "pmid": "" }, { "name": "fibroblast migration", "id": "GO:0010761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010761", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ], "pmid": "" }, { "name": "phosphoprotein phosphatase activity", "id": "GO:0004721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004721", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ], "pmid": "" }, { "name": "cell-substrate junction", "id": "GO:0030055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030055", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1060", "end_pos": "1060", "site_lbl": "Asn1060", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G57776ZS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "RRAASDGQYENQSPEATSPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1060, "start_aa": "Asn", "end_pos": 1060, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1060", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1321", "end_pos": "1321", "site_lbl": "Ser1321", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc...) serine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 1321, "start_aa": "Ser", "end_pos": 1321, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1321", "evidence": [ { "id": "E9Q0S6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1375", "end_pos": "1375", "site_lbl": "Ser1375", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1375, "start_aa": "Ser", "end_pos": 1375, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1375", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "E9Q0S6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1390", "end_pos": "1390", "site_lbl": "Ser1390", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1390, "start_aa": "Ser", "end_pos": 1390, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1390", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "E9Q0S6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1504", "end_pos": "1504", "site_lbl": "Thr1504", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1504, "start_aa": "Thr", "end_pos": 1504, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1504", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1537", "end_pos": "1537", "site_lbl": "Thr1537", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1537, "start_aa": "Thr", "end_pos": 1537, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1537", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1784", "end_pos": "1784", "site_lbl": "Thr1784", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1784, "start_aa": "Thr", "end_pos": 1784, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1784", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Asn230", "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": "EVAQMLKSKHGGNYLLFNLSEQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 230, "start_aa": "Asn", "end_pos": 230, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn230", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Asn547", "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": "KDSLNGSSGPVTTAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 547, "start_aa": "Asn", "end_pos": 547, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn547", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "579", "end_pos": "579", "site_lbl": "Asn579", "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": "PALSATPNHVEHTLSVSSDSGNSTASTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 579, "start_aa": "Asn", "end_pos": 579, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn579", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "643", "end_pos": "643", "site_lbl": "Thr643", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 643, "start_aa": "Thr", "end_pos": 643, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr643", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1015", "end_pos": "1015", "site_lbl": "Thr1015", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1054", "end_pos": "1054", "site_lbl": "Ser1054", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1058", "end_pos": "1058", "site_lbl": "Tyr1058", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1062", "end_pos": "1062", "site_lbl": "Ser1062", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1118", "end_pos": "1118", "site_lbl": "Ser1118", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1122", "end_pos": "1122", "site_lbl": "Ser1122", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1279", "end_pos": "1279", "site_lbl": "Ser1279", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1331", "end_pos": "1331", "site_lbl": "Ser1331", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1343", "end_pos": "1343", "site_lbl": "Thr1343", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1346", "end_pos": "1346", "site_lbl": "Ser1346", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1420", "end_pos": "1420", "site_lbl": "Thr1420", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1423", "end_pos": "1423", "site_lbl": "Ser1423", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1448", "end_pos": "1448", "site_lbl": "Ser1448", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1463", "end_pos": "1463", "site_lbl": "Ser1463", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1468", "end_pos": "1468", "site_lbl": "Ser1468", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1535", "end_pos": "1535", "site_lbl": "Ser1535", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1547", "end_pos": "1547", "site_lbl": "Ser1547", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1554", "end_pos": "1554", "site_lbl": "Ser1554", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1599", "end_pos": "1599", "site_lbl": "Ser1599", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1741", "end_pos": "1741", "site_lbl": "Ser1741", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "509", "end_pos": "509", "site_lbl": "Ser509", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "535", "end_pos": "535", "site_lbl": "Ser535", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Tyr537", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "549", "end_pos": "549", "site_lbl": "Ser549", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "604", "end_pos": "604", "site_lbl": "Ser604", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "792", "end_pos": "792", "site_lbl": "Ser792", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "867", "end_pos": "867", "site_lbl": "Ser867", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "930", "end_pos": "930", "site_lbl": "Ser930", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "935", "end_pos": "935", "site_lbl": "Ser935", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "952", "end_pos": "952", "site_lbl": "Ser952", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q0S6", "url": "https://www.uniprot.org/uniprotkb/E9Q0S6" } ] } ] }, { "uniprot_canonical_ac": "E9Q0S6-1", "start_pos": "1589", "end_pos": "1589", "site_lbl": "Asp1589", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DFS->NFS).", "chr_id": "1", "chr_pos": "73963889", "evidence": [ { "id": "rs3388476599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388476599" } ] } ] } ], "record_id": "E9Q0S6-1" }, { "uniprot_canonical_ac": "Q9DA37-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DA37", "url": "https://www.uniprot.org/uniprotkb/Q9DA37" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 478, "chemical_mass": 54713.0, "gene_names": "Samd8;1110053F04Rik;1700010P07Rik;PE-PLC;SMSr;Samd8", "protein_name": "Sphingomyelin synthase-related protein 1", "disease": [], "biological_process": [ { "name": "sphingomyelin biosynthetic process", "id": "GO:0006686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006686", "evidence": [ { "database": "UniProtKB", "id": "Q9DA37", "url": "https://www.uniprot.org/uniprotkb/Q9DA37" } ], "pmid": "" }, { "name": "ceramide phosphoethanolamine biosynthetic process", "id": "GO:1905373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905373", "evidence": [ { "database": "UniProtKB", "id": "Q9DA37", "url": "https://www.uniprot.org/uniprotkb/Q9DA37" } ], "pmid": "" }, { "name": "regulation of ceramide biosynthetic process", "id": "GO:2000303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000303", "evidence": [ { "database": "UniProtKB", "id": "Q9DA37", "url": "https://www.uniprot.org/uniprotkb/Q9DA37" } ], "pmid": "" }, { "name": "ceramide biosynthetic process", "id": "GO:0046513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046513", "evidence": [ { "database": "UniProtKB", "id": "Q9DA37", "url": "https://www.uniprot.org/uniprotkb/Q9DA37" } ], "pmid": "" } ], "molecular_function": [ { "name": "ceramide phosphoethanolamine synthase activity", "id": "GO:0002950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002950", "evidence": [ { "database": "UniProtKB", "id": "Q9DA37", "url": "https://www.uniprot.org/uniprotkb/Q9DA37" } ], "pmid": "" }, { "name": "sphingomyelin synthase activity", "id": "GO:0033188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033188", "evidence": [ { "database": "UniProtKB", "id": "Q9DA37", "url": "https://www.uniprot.org/uniprotkb/Q9DA37" } ], "pmid": "" }, { "name": "ceramide cholinephosphotransferase activity", "id": "GO:0047493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047493", "evidence": [ { "database": "UniProtKB", "id": "Q9DA37", "url": "https://www.uniprot.org/uniprotkb/Q9DA37" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9DA37", "url": "https://www.uniprot.org/uniprotkb/Q9DA37" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9DA37", "url": "https://www.uniprot.org/uniprotkb/Q9DA37" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9DA37", "url": "https://www.uniprot.org/uniprotkb/Q9DA37" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9DA37", "url": "https://www.uniprot.org/uniprotkb/Q9DA37" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9DA37", "url": "https://www.uniprot.org/uniprotkb/Q9DA37" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9DA37", "url": "https://www.uniprot.org/uniprotkb/Q9DA37" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9DA37", "url": "https://www.uniprot.org/uniprotkb/Q9DA37" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9DA37-1" }, { "uniprot_canonical_ac": "Q8VIL2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VIL2", "url": "https://www.uniprot.org/uniprotkb/Q8VIL2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 267, "chemical_mass": 29890.0, "gene_names": "Rwdd3;Rsume;X2cr1", "protein_name": "RWD domain-containing protein 3", "disease": [], "biological_process": [ { "name": "positive regulation of hypoxia-inducible factor-1alpha signaling pathway", "id": "GO:1902073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902073", "evidence": [ { "database": "UniProtKB", "id": "Q8VIL2", "url": "https://www.uniprot.org/uniprotkb/Q8VIL2" } ], "pmid": "" }, { "name": "positive regulation of protein sumoylation", "id": "GO:0033235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033235", "evidence": [ { "database": "UniProtKB", "id": "Q8VIL2", "url": "https://www.uniprot.org/uniprotkb/Q8VIL2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VIL2", "url": "https://www.uniprot.org/uniprotkb/Q8VIL2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VIL2", "url": "https://www.uniprot.org/uniprotkb/Q8VIL2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VIL2-1" }, { "uniprot_canonical_ac": "Q9D9E0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D9E0", "url": "https://www.uniprot.org/uniprotkb/Q9D9E0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 401, "chemical_mass": 43195.0, "gene_names": "Slc22a17;1700094C23Rik;24p3R;BOIT;Boct;Slc22a17", "protein_name": "Solute carrier family 22 member 17", "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": "Q9D9E0", "url": "https://www.uniprot.org/uniprotkb/Q9D9E0" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q9D9E0", "url": "https://www.uniprot.org/uniprotkb/Q9D9E0" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9D9E0", "url": "https://www.uniprot.org/uniprotkb/Q9D9E0" } ], "pmid": "" }, { "name": "vacuolar membrane", "id": "GO:0005774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005774", "evidence": [ { "database": "UniProtKB", "id": "Q9D9E0", "url": "https://www.uniprot.org/uniprotkb/Q9D9E0" } ], "pmid": "" }, { "name": "organelle membrane", "id": "GO:0031090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031090", "evidence": [ { "database": "UniProtKB", "id": "Q9D9E0", "url": "https://www.uniprot.org/uniprotkb/Q9D9E0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9D9E0", "url": "https://www.uniprot.org/uniprotkb/Q9D9E0" } ], "pmid": "" } ], "biological_process": [ { "name": "siderophore transport", "id": "GO:0015891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015891", "evidence": [ { "database": "UniProtKB", "id": "Q9D9E0", "url": "https://www.uniprot.org/uniprotkb/Q9D9E0" } ], "pmid": "" }, { "name": "iron ion transport", "id": "GO:0006826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006826", "evidence": [ { "database": "UniProtKB", "id": "Q9D9E0", "url": "https://www.uniprot.org/uniprotkb/Q9D9E0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D9E0-1" }, { "uniprot_canonical_ac": "B1ASQ7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1ASQ7", "url": "https://www.uniprot.org/uniprotkb/B1ASQ7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 799, "chemical_mass": 94641.0, "gene_names": "Zfp268;Gm13212;Zfp268", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B1ASQ7", "url": "https://www.uniprot.org/uniprotkb/B1ASQ7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "B1ASQ7", "url": "https://www.uniprot.org/uniprotkb/B1ASQ7" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "B1ASQ7", "url": "https://www.uniprot.org/uniprotkb/B1ASQ7" } ], "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": "B1ASQ7", "url": "https://www.uniprot.org/uniprotkb/B1ASQ7" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "B1ASQ7", "url": "https://www.uniprot.org/uniprotkb/B1ASQ7" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "B1ASQ7", "url": "https://www.uniprot.org/uniprotkb/B1ASQ7" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "B1ASQ7", "url": "https://www.uniprot.org/uniprotkb/B1ASQ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B1ASQ7-1" }, { "uniprot_canonical_ac": "Q9WTW5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 551, "chemical_mass": 61053.0, "gene_names": "Slc22a3;EMT;Oct3;Orct3;Slc22a3;Slca22a3", "protein_name": "Solute carrier family 22 member 3", "disease": [], "molecular_function": [ { "name": "neurotransmitter transmembrane transporter activity", "id": "GO:0005326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005326", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "quaternary ammonium group transmembrane transporter activity", "id": "GO:0015651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015651", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "toxin transmembrane transporter activity", "id": "GO:0019534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019534", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "monoamine transmembrane transporter activity", "id": "GO:0008504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008504", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "choline transmembrane transporter activity", "id": "GO:0015220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015220", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "dopamine:sodium symporter activity", "id": "GO:0005330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005330", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "spermidine transmembrane transporter activity", "id": "GO:0015606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015606", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" } ], "biological_process": [ { "name": "quaternary ammonium group transport", "id": "GO:0015697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015697", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "monoamine transport", "id": "GO:0015844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015844", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "organic cation transport", "id": "GO:0015695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015695", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "regulation of appetite", "id": "GO:0032098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032098", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "organic anion transport", "id": "GO:0015711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015711", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "dopamine transport", "id": "GO:0015872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015872", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "choline transport", "id": "GO:0015871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015871", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "norepinephrine transport", "id": "GO:0015874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015874", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "histamine uptake", "id": "GO:0051615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051615", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "dopamine uptake", "id": "GO:0090494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090494", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "serotonin transport", "id": "GO:0006837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006837", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "serotonin uptake", "id": "GO:0051610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051610", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "monocarboxylic acid transport", "id": "GO:0015718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015718", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "epinephrine transport", "id": "GO:0048241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048241", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "histamine transport", "id": "GO:0051608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051608", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "xenobiotic transport", "id": "GO:0042908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "neurotransmitter transport", "id": "GO:0006836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006836", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "cellular detoxification", "id": "GO:1990748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990748", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "norepinephrine uptake", "id": "GO:0051620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051620", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "epinephrine uptake", "id": "GO:0051625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051625", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "organic hydroxy compound transport", "id": "GO:0015850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015850", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "spermidine transport", "id": "GO:0015848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015848", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "nuclear outer membrane", "id": "GO:0005640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005640", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9WTW5", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WTW5-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Asn114", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q9WTW5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WTW5-1", "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": "Q9WTW5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WTW5-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Asn317", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q9WTW5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WTW5-1", "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": "Q9WTW5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WTW5-1", "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": "Q9WTW5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WTW5#ptm_processing" } ] } ] } ], "record_id": "Q9WTW5-1" }, { "uniprot_canonical_ac": "K7N6Z2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "K7N6Z2", "url": "https://www.uniprot.org/uniprotkb/K7N6Z2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 861, "chemical_mass": 99136.0, "gene_names": "Vmn2r97", "protein_name": "", "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": "K7N6Z2", "url": "https://www.uniprot.org/uniprotkb/K7N6Z2" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "K7N6Z2", "url": "https://www.uniprot.org/uniprotkb/K7N6Z2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "K7N6Z2-1" }, { "uniprot_canonical_ac": "E9Q067-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q067", "url": "https://www.uniprot.org/uniprotkb/E9Q067" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 851, "chemical_mass": 97972.0, "gene_names": "Vmn2r79;EG621430;Vmn2r79", "protein_name": "", "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": "E9Q067", "url": "https://www.uniprot.org/uniprotkb/E9Q067" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "E9Q067", "url": "https://www.uniprot.org/uniprotkb/E9Q067" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9Q067", "url": "https://www.uniprot.org/uniprotkb/E9Q067" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q067-1" }, { "uniprot_canonical_ac": "Q9JKD3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JKD3", "url": "https://www.uniprot.org/uniprotkb/Q9JKD3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 235, "chemical_mass": 26068.0, "gene_names": "Scamp5;Sc5;Scamp5", "protein_name": "Secretory carrier-associated membrane 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: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: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 } ], "biological_process": [ { "name": "negative regulation of endocytosis", "id": "GO:0045806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045806", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD3", "url": "https://www.uniprot.org/uniprotkb/Q9JKD3" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD3", "url": "https://www.uniprot.org/uniprotkb/Q9JKD3" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD3", "url": "https://www.uniprot.org/uniprotkb/Q9JKD3" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD3", "url": "https://www.uniprot.org/uniprotkb/Q9JKD3" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD3", "url": "https://www.uniprot.org/uniprotkb/Q9JKD3" } ], "pmid": "" }, { "name": "positive regulation of calcium ion-dependent exocytosis", "id": "GO:0045956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045956", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD3", "url": "https://www.uniprot.org/uniprotkb/Q9JKD3" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle endocytosis", "id": "GO:1900242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900242", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD3", "url": "https://www.uniprot.org/uniprotkb/Q9JKD3" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD3", "url": "https://www.uniprot.org/uniprotkb/Q9JKD3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD3", "url": "https://www.uniprot.org/uniprotkb/Q9JKD3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD3", "url": "https://www.uniprot.org/uniprotkb/Q9JKD3" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD3", "url": "https://www.uniprot.org/uniprotkb/Q9JKD3" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD3", "url": "https://www.uniprot.org/uniprotkb/Q9JKD3" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD3", "url": "https://www.uniprot.org/uniprotkb/Q9JKD3" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD3", "url": "https://www.uniprot.org/uniprotkb/Q9JKD3" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9JKD3", "url": "https://www.uniprot.org/uniprotkb/Q9JKD3" } ], "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": "Q9JKD3", "url": "https://www.uniprot.org/uniprotkb/Q9JKD3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JKD3-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Thr230", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 230, "start_aa": "Thr", "end_pos": 230, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr230", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q9JKD3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9JKD3" } ] } ] } ], "record_id": "Q9JKD3-1" }, { "uniprot_canonical_ac": "A0A087WNM4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A087WNM4", "url": "https://www.uniprot.org/uniprotkb/A0A087WNM4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 232, "chemical_mass": 26751.0, "gene_names": "Gm21854", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A0A087WNM4", "url": "https://www.uniprot.org/uniprotkb/A0A087WNM4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A0A087WNM4", "url": "https://www.uniprot.org/uniprotkb/A0A087WNM4" } ], "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": "A0A087WNM4", "url": "https://www.uniprot.org/uniprotkb/A0A087WNM4" } ], "pmid": "" }, { "name": "gamete generation", "id": "GO:0007276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007276", "evidence": [ { "database": "UniProtKB", "id": "A0A087WNM4", "url": "https://www.uniprot.org/uniprotkb/A0A087WNM4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A087WNM4-1" }, { "uniprot_canonical_ac": "Q9D413-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D413", "url": "https://www.uniprot.org/uniprotkb/Q9D413" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 297, "chemical_mass": 32016.0, "gene_names": "Sh2d6", "protein_name": "SH2 domain-containing protein 6", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9D413", "url": "https://www.uniprot.org/uniprotkb/Q9D413" } ], "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": "Q9D413", "url": "https://www.uniprot.org/uniprotkb/Q9D413" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q9D413", "url": "https://www.uniprot.org/uniprotkb/Q9D413" } ], "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": "Q9D413", "url": "https://www.uniprot.org/uniprotkb/Q9D413" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D413-1" }, { "uniprot_canonical_ac": "Q9ERR7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ERR7", "url": "https://www.uniprot.org/uniprotkb/Q9ERR7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 162, "chemical_mass": 17806.0, "gene_names": "Selenof;9430015P09Rik;Selenof;Sep15", "protein_name": "Selenoprotein F", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "Q9ERR7", "url": "https://www.uniprot.org/uniprotkb/Q9ERR7" } ], "pmid": "" } ], "biological_process": [ { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q9ERR7", "url": "https://www.uniprot.org/uniprotkb/Q9ERR7" } ], "pmid": "" }, { "name": "'de novo' post-translational protein folding", "id": "GO:0051084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051084", "evidence": [ { "database": "UniProtKB", "id": "Q9ERR7", "url": "https://www.uniprot.org/uniprotkb/Q9ERR7" } ], "pmid": "" }, { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "Q9ERR7", "url": "https://www.uniprot.org/uniprotkb/Q9ERR7" } ], "pmid": "" } ], "molecular_function": [ { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q9ERR7", "url": "https://www.uniprot.org/uniprotkb/Q9ERR7" } ], "pmid": "" }, { "name": "thioredoxin peroxidase activity", "id": "GO:0008379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008379", "evidence": [ { "database": "UniProtKB", "id": "Q9ERR7", "url": "https://www.uniprot.org/uniprotkb/Q9ERR7" } ], "pmid": "" }, { "name": "selenium binding", "id": "GO:0008430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008430", "evidence": [ { "database": "UniProtKB", "id": "Q9ERR7", "url": "https://www.uniprot.org/uniprotkb/Q9ERR7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9ERR7-1" }, { "uniprot_canonical_ac": "Q9EPB5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EPB5", "url": "https://www.uniprot.org/uniprotkb/Q9EPB5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 311, "chemical_mass": 35311.0, "gene_names": "Serhl;0610008B10Rik;1110019M09Rik;Serhl", "protein_name": "Serine hydrolase-like protein", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB5", "url": "https://www.uniprot.org/uniprotkb/Q9EPB5" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB5", "url": "https://www.uniprot.org/uniprotkb/Q9EPB5" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB5", "url": "https://www.uniprot.org/uniprotkb/Q9EPB5" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB5", "url": "https://www.uniprot.org/uniprotkb/Q9EPB5" } ], "pmid": "" } ], "molecular_function": [ { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB5", "url": "https://www.uniprot.org/uniprotkb/Q9EPB5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EPB5-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Ser210", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPB5", "url": "https://www.uniprot.org/uniprotkb/Q9EPB5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9EPB5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EPB5" } ] } ] } ], "record_id": "Q9EPB5-1" }, { "uniprot_canonical_ac": "Q9D2Z4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D2Z4", "url": "https://www.uniprot.org/uniprotkb/Q9D2Z4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 221, "chemical_mass": 25057.0, "gene_names": "Senp8;9130010J17Rik;Den1;Nedp1;Prsc2;Senp8", "protein_name": "Sentrin-specific protease 8", "disease": [], "molecular_function": [ { "name": "deNEDDylase activity", "id": "GO:0019784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019784", "evidence": [ { "database": "UniProtKB", "id": "Q9D2Z4", "url": "https://www.uniprot.org/uniprotkb/Q9D2Z4" } ], "pmid": "" }, { "name": "cysteine-type peptidase activity", "id": "GO:0008234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008234", "evidence": [ { "database": "UniProtKB", "id": "Q9D2Z4", "url": "https://www.uniprot.org/uniprotkb/Q9D2Z4" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9D2Z4", "url": "https://www.uniprot.org/uniprotkb/Q9D2Z4" } ], "pmid": "" }, { "name": "protein deneddylation", "id": "GO:0000338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000338", "evidence": [ { "database": "UniProtKB", "id": "Q9D2Z4", "url": "https://www.uniprot.org/uniprotkb/Q9D2Z4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D2Z4-1" }, { "uniprot_canonical_ac": "Q91Y63-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 600, "chemical_mass": 66143.0, "gene_names": "Slc13a3;NaC3;NaDC-3;NaDC3;Nadc3;SDCT2;Sdct2;Slc13a3", "protein_name": "Na(+)/dicarboxylate cotransporter 3", "disease": [], "molecular_function": [ { "name": "alpha-ketoglutarate transmembrane transporter activity", "id": "GO:0015139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015139", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" }, { "name": "citrate transmembrane transporter activity", "id": "GO:0015137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015137", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" }, { "name": "high-affinity sodium:dicarboxylate symporter activity", "id": "GO:0015362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015362", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" }, { "name": "sodium:dicarboxylate symporter activity", "id": "GO:0017153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017153", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" }, { "name": "organic acid:sodium symporter activity", "id": "GO:0005343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005343", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" }, { "name": "glutathione transmembrane transporter activity", "id": "GO:0034634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034634", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" }, { "name": "L-aspartate transmembrane transporter activity", "id": "GO:0015183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015183", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" }, { "name": "dicarboxylic acid transmembrane transporter activity", "id": "GO:0005310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005310", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" }, { "name": "succinate transmembrane transporter activity", "id": "GO:0015141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015141", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" }, { "name": "solute:sodium symporter activity", "id": "GO:0015370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015370", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" } ], "biological_process": [ { "name": "carboxylic acid transport", "id": "GO:0046942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046942", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" }, { "name": "citrate transport", "id": "GO:0015746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015746", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" }, { "name": "glutathione transmembrane transport", "id": "GO:0034775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034775", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" }, { "name": "aspartate transmembrane transport", "id": "GO:0015810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015810", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" }, { "name": "dicarboxylic acid transport", "id": "GO:0006835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006835", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" }, { "name": "succinate transmembrane transport", "id": "GO:0071422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071422", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" }, { "name": "succinate transport", "id": "GO:0015744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015744", "evidence": [ { "database": "UniProtKB", "id": "Q91Y63", "url": "https://www.uniprot.org/uniprotkb/Q91Y63" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91Y63-1", "start_pos": "584", "end_pos": "584", "site_lbl": "Asn584", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 584, "start_aa": "Asn", "end_pos": 584, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn584", "evidence": [ { "id": "Q91Y63", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91Y63#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91Y63-1", "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": "Q91Y63", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91Y63#ptm_processing" } ] } ] } ], "record_id": "Q91Y63-1" }, { "uniprot_canonical_ac": "Q9Z0E8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 557, "chemical_mass": 62780.0, "gene_names": "Slc22a5;Lstpl;Octn2;Slc22a5;jvs", "protein_name": "Organic cation/carnitine transporter 2", "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: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: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:14365", "name": "systemic primary carnitine deficiency disease", "description": "An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.", "url": "https://disease-ontology.org/term/DOID:14365", "evidence": [ { "id": "14365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14365" } ], "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: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: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 }, { "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": "quaternary ammonium group transmembrane transporter activity", "id": "GO:0015651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015651", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "amino-acid betaine transmembrane transporter activity", "id": "GO:0015199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015199", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "symporter activity", "id": "GO:0015293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015293", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "carnitine transmembrane transporter activity", "id": "GO:0015226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015226", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "(R)-carnitine transmembrane transporter activity", "id": "GO:1901235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901235", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" } ], "biological_process": [ { "name": "quaternary ammonium group transport", "id": "GO:0015697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015697", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "response to symbiotic bacterium", "id": "GO:0009609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009609", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "adult heart development", "id": "GO:0007512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007512", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "positive regulation of intestinal epithelial structure maintenance", "id": "GO:0060731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060731", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "sodium-dependent organic cation transport", "id": "GO:0070715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070715", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "carnitine transmembrane transport", "id": "GO:1902603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902603", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "response to type II interferon", "id": "GO:0034341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "carnitine metabolic process", "id": "GO:0009437", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009437", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "carnitine transport", "id": "GO:0015879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015879", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "reproductive structure development", "id": "GO:0048608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048608", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "transport across blood-brain barrier", "id": "GO:0150104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150104", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "(R)-carnitine transmembrane transport", "id": "GO:1902270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902270", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "(R)-carnitine transport", "id": "GO:1900749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900749", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z0E8-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Asn57", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q9Z0E8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0E8-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Asn64", "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": "NHSIPLETK", "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": "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": 64, "start_aa": "Asn", "end_pos": 64, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn64", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2733", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2733" } ] }, { "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": 64, "start_aa": "Asn", "end_pos": 64, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn64", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2733", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2733" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_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": "Q9Z0E8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0E8-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Asn91", "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": "LATIANFSELGLEPGR", "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": "Q9Z0E8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0E8-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Tyr486", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0E8-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Ser548", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0E8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0E8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0E8-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Thr550", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0E8", "url": "https://www.uniprot.org/uniprotkb/Q9Z0E8" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9Z0E8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0E8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0E8-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Ser497", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SLT->NLT).", "chr_id": "11", "chr_pos": "53757159", "evidence": [ { "id": "rs3389094809", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389094809" } ] } ] } ], "record_id": "Q9Z0E8-1" }, { "uniprot_canonical_ac": "Q9ERH8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ERH8", "url": "https://www.uniprot.org/uniprotkb/Q9ERH8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 703, "chemical_mass": 78310.0, "gene_names": "Slc28a3;Cnt3;Slc28a3", "protein_name": "Solute carrier family 28 member 3", "disease": [], "molecular_function": [ { "name": "uridine transmembrane transporter activity", "id": "GO:0015213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015213", "evidence": [ { "database": "UniProtKB", "id": "Q9ERH8", "url": "https://www.uniprot.org/uniprotkb/Q9ERH8" } ], "pmid": "" }, { "name": "pyrimidine- and adenosine-specific:sodium symporter activity", "id": "GO:0015389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015389", "evidence": [ { "database": "UniProtKB", "id": "Q9ERH8", "url": "https://www.uniprot.org/uniprotkb/Q9ERH8" } ], "pmid": "" }, { "name": "purine-specific nucleoside:sodium symporter activity", "id": "GO:0015390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015390", "evidence": [ { "database": "UniProtKB", "id": "Q9ERH8", "url": "https://www.uniprot.org/uniprotkb/Q9ERH8" } ], "pmid": "" } ], "biological_process": [ { "name": "purine nucleoside transmembrane transport", "id": "GO:0015860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015860", "evidence": [ { "database": "UniProtKB", "id": "Q9ERH8", "url": "https://www.uniprot.org/uniprotkb/Q9ERH8" } ], "pmid": "" }, { "name": "uridine transmembrane transport", "id": "GO:0015862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015862", "evidence": [ { "database": "UniProtKB", "id": "Q9ERH8", "url": "https://www.uniprot.org/uniprotkb/Q9ERH8" } ], "pmid": "" }, { "name": "retina homeostasis", "id": "GO:0001895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001895", "evidence": [ { "database": "UniProtKB", "id": "Q9ERH8", "url": "https://www.uniprot.org/uniprotkb/Q9ERH8" } ], "pmid": "" }, { "name": "pyrimidine nucleoside transport", "id": "GO:0015864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015864", "evidence": [ { "database": "UniProtKB", "id": "Q9ERH8", "url": "https://www.uniprot.org/uniprotkb/Q9ERH8" } ], "pmid": "" }, { "name": "nucleoside transmembrane transport", "id": "GO:1901642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901642", "evidence": [ { "database": "UniProtKB", "id": "Q9ERH8", "url": "https://www.uniprot.org/uniprotkb/Q9ERH8" } ], "pmid": "" }, { "name": "pyrimidine-containing compound transmembrane transport", "id": "GO:0072531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072531", "evidence": [ { "database": "UniProtKB", "id": "Q9ERH8", "url": "https://www.uniprot.org/uniprotkb/Q9ERH8" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9ERH8", "url": "https://www.uniprot.org/uniprotkb/Q9ERH8" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "Q9ERH8", "url": "https://www.uniprot.org/uniprotkb/Q9ERH8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9ERH8-1" }, { "uniprot_canonical_ac": "Q91VE0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 643, "chemical_mass": 72319.0, "gene_names": "Slc27a4;ACSVL4;Acsvl4;FATP4;Fatp4;Slc27a4", "protein_name": "Long-chain fatty acid transport protein 4", "disease": [ { "disease_id": "DOID:0060762", "name": "restrictive dermopathy", "description": "A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life.", "url": "https://disease-ontology.org/term/DOID:0060762", "evidence": [ { "id": "0060762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060762" } ], "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 insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" }, { "name": "lipid transport across blood-brain barrier", "id": "GO:1990379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990379", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "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": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "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": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "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": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" }, { "name": "fatty acid transport", "id": "GO:0015908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015908", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "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": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" }, { "name": "long-chain fatty acid transport", "id": "GO:0015909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015909", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "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": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" }, { "name": "medium-chain fatty acid transport", "id": "GO:0001579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001579", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" }, { "name": "negative regulation of all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity", "id": "GO:0062003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062003", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "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": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "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": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "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": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" }, { "name": "arachidonate-CoA ligase activity", "id": "GO:0047676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047676", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" }, { "name": "oleoyl-CoA ligase activity", "id": "GO:0090434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090434", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" }, { "name": "palmitoyl-CoA ligase activity", "id": "GO:0090433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090433", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "Q91VE0", "url": "https://www.uniprot.org/uniprotkb/Q91VE0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91VE0-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Asn327", "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": "YNCTIVQYIGELCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 327, "start_aa": "Asn", "end_pos": 327, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn327", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q91VE0-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Asn515", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G00912UN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GENVSTTEVEGTLSR", "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" } ] } ] } ], "record_id": "Q91VE0-1" }, { "uniprot_canonical_ac": "Q91X56-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91X56", "url": "https://www.uniprot.org/uniprotkb/Q91X56" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 400, "chemical_mass": 42331.0, "gene_names": "S1pr5;Edg8;Lpb4;S1P5;S1pr5;lpB4", "protein_name": "Sphingosine 1-phosphate receptor 5", "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": "Q91X56", "url": "https://www.uniprot.org/uniprotkb/Q91X56" } ], "pmid": "" }, { "name": "sphingosine-1-phosphate receptor activity", "id": "GO:0038036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038036", "evidence": [ { "database": "UniProtKB", "id": "Q91X56", "url": "https://www.uniprot.org/uniprotkb/Q91X56" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91X56", "url": "https://www.uniprot.org/uniprotkb/Q91X56" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91X56", "url": "https://www.uniprot.org/uniprotkb/Q91X56" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q91X56", "url": "https://www.uniprot.org/uniprotkb/Q91X56" } ], "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": "Q91X56", "url": "https://www.uniprot.org/uniprotkb/Q91X56" } ], "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": "Q91X56", "url": "https://www.uniprot.org/uniprotkb/Q91X56" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91X56-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Asn20", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G42815AD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HYNYTGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 20, "start_aa": "Asn", "end_pos": 20, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn20", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 20, "start_aa": "Asn", "end_pos": 20, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn20", "evidence": [ { "id": "Q91X56", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91X56#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91X56-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Ser340", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X56", "url": "https://www.uniprot.org/uniprotkb/Q91X56" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91X56", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91X56" } ] } ] }, { "uniprot_canonical_ac": "Q91X56-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Ser342", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X56", "url": "https://www.uniprot.org/uniprotkb/Q91X56" } ] } ] }, { "uniprot_canonical_ac": "Q91X56-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Ser384", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91X56", "url": "https://www.uniprot.org/uniprotkb/Q91X56" } ] } ] } ], "record_id": "Q91X56-1" }, { "uniprot_canonical_ac": "Q99JZ0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99JZ0", "url": "https://www.uniprot.org/uniprotkb/Q99JZ0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 292, "chemical_mass": 31565.0, "gene_names": "Sdcbp2;Sdcbp2", "protein_name": "Syntenin-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": "Q99JZ0", "url": "https://www.uniprot.org/uniprotkb/Q99JZ0" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ0", "url": "https://www.uniprot.org/uniprotkb/Q99JZ0" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ0", "url": "https://www.uniprot.org/uniprotkb/Q99JZ0" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ0", "url": "https://www.uniprot.org/uniprotkb/Q99JZ0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ0", "url": "https://www.uniprot.org/uniprotkb/Q99JZ0" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ0", "url": "https://www.uniprot.org/uniprotkb/Q99JZ0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ0", "url": "https://www.uniprot.org/uniprotkb/Q99JZ0" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ0", "url": "https://www.uniprot.org/uniprotkb/Q99JZ0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ0", "url": "https://www.uniprot.org/uniprotkb/Q99JZ0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ0", "url": "https://www.uniprot.org/uniprotkb/Q99JZ0" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ0", "url": "https://www.uniprot.org/uniprotkb/Q99JZ0" } ], "pmid": "" } ], "biological_process": [ { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q99JZ0", "url": "https://www.uniprot.org/uniprotkb/Q99JZ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Leu111", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151428352", "evidence": [ { "id": "rs3388594866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388594866" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Lys118", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151428373", "evidence": [ { "id": "rs3388597103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388597103" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Arg122", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151428385", "evidence": [ { "id": "rs5525777618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525777618" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Gln136", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151429008", "evidence": [ { "id": "rs3388600906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388600906" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Ser142", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151429026", "evidence": [ { "id": "rs3388592371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388592371" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Leu143", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151429030", "evidence": [ { "id": "rs3388594825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388594825" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Asp150", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151429050", "evidence": [ { "id": "rs3388597106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388597106" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Gln154", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151429063", "evidence": [ { "id": "rs3388597684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388597684" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Gln15", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151424675", "evidence": [ { "id": "rs3540816438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3540816438" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Val171", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151429114", "evidence": [ { "id": "rs246797381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246797381" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Ile184", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151429152", "evidence": [ { "id": "rs229353726", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229353726" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Lys247", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151431132", "evidence": [ { "id": "rs3388597805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388597805" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Leu261", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151431174", "evidence": [ { "id": "rs3388601432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388601432" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Thr26", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151425876", "evidence": [ { "id": "rs264397646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264397646" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Arg275", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151431453", "evidence": [ { "id": "rs3388590669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388590669" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Thr29", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151425885", "evidence": [ { "id": "rs27387956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27387956" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Pro31", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151425890", "evidence": [ { "id": "rs3388603241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388603241" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Met34", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151425900", "evidence": [ { "id": "rs3540816535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3540816535" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Ile70", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151426812", "evidence": [ { "id": "rs3388597782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388597782" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Ser73", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151426821", "evidence": [ { "id": "rs27387943", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27387943" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Pro83", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151428269", "evidence": [ { "id": "rs3540816319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3540816319" } ] } ] }, { "uniprot_canonical_ac": "Q99JZ0-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Asn93", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "2", "chr_pos": "151428299", "evidence": [ { "id": "rs3388590771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388590771" } ] } ] } ], "record_id": "Q99JZ0-1" }, { "uniprot_canonical_ac": "Q99N99-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 254, "chemical_mass": 28619.0, "gene_names": "Srd5a2;5ART2;5art2;S5AR 2;Srd5a2", "protein_name": "3-oxo-5-alpha-steroid 4-dehydrogenase 2", "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: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: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: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: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 } ], "biological_process": [ { "name": "female genitalia development", "id": "GO:0030540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030540", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "response to steroid hormone", "id": "GO:0048545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048545", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "androgen biosynthetic process", "id": "GO:0006702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006702", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "androgen metabolic process", "id": "GO:0008209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008209", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "response to follicle-stimulating hormone", "id": "GO:0032354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032354", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "testosterone biosynthetic process", "id": "GO:0061370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061370", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "male genitalia development", "id": "GO:0030539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030539", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "hypothalamus development", "id": "GO:0021854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021854", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "phthalate metabolic process", "id": "GO:0018963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018963", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "steroid catabolic process", "id": "GO:0006706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006706", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "dibenzo-p-dioxin metabolic process", "id": "GO:0018894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018894", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "response to biphenyl", "id": "GO:1904614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904614", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" } ], "molecular_function": [ { "name": "amide binding", "id": "GO:0033218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033218", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "testosterone dehydrogenase (NADP+) activity", "id": "GO:0047045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047045", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "3-oxo-5-alpha-steroid 4-dehydrogenase activity", "id": "GO:0003865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003865", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "3-oxo-5-alpha-steroid 4-dehydrogenase (NADP+) activity", "id": "GO:0047751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047751", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" }, { "name": "cell body fiber", "id": "GO:0070852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070852", "evidence": [ { "database": "UniProtKB", "id": "Q99N99", "url": "https://www.uniprot.org/uniprotkb/Q99N99" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q99N99-1" }, { "uniprot_canonical_ac": "Q99PL7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99PL7", "url": "https://www.uniprot.org/uniprotkb/Q99PL7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 359, "chemical_mass": 41432.0, "gene_names": "Scd3;4930513N16Rik;Scd3", "protein_name": "Acyl-CoA desaturase 3", "disease": [ { "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": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q99PL7", "url": "https://www.uniprot.org/uniprotkb/Q99PL7" } ], "pmid": "" }, { "name": "stearoyl-CoA 9-desaturase activity", "id": "GO:0004768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004768", "evidence": [ { "database": "UniProtKB", "id": "Q99PL7", "url": "https://www.uniprot.org/uniprotkb/Q99PL7" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q99PL7", "url": "https://www.uniprot.org/uniprotkb/Q99PL7" } ], "pmid": "" }, { "name": "palmitoyl-CoA 9-desaturase activity", "id": "GO:0032896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032896", "evidence": [ { "database": "UniProtKB", "id": "Q99PL7", "url": "https://www.uniprot.org/uniprotkb/Q99PL7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q99PL7", "url": "https://www.uniprot.org/uniprotkb/Q99PL7" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q99PL7", "url": "https://www.uniprot.org/uniprotkb/Q99PL7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q99PL7", "url": "https://www.uniprot.org/uniprotkb/Q99PL7" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q99PL7", "url": "https://www.uniprot.org/uniprotkb/Q99PL7" } ], "pmid": "" } ], "biological_process": [ { "name": "unsaturated fatty acid biosynthetic process", "id": "GO:0006636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006636", "evidence": [ { "database": "UniProtKB", "id": "Q99PL7", "url": "https://www.uniprot.org/uniprotkb/Q99PL7" } ], "pmid": "" }, { "name": "monounsaturated fatty acid biosynthetic process", "id": "GO:1903966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903966", "evidence": [ { "database": "UniProtKB", "id": "Q99PL7", "url": "https://www.uniprot.org/uniprotkb/Q99PL7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99PL7-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99PL7", "url": "https://www.uniprot.org/uniprotkb/Q99PL7" } ] } ] }, { "uniprot_canonical_ac": "Q99PL7-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Gly114", "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": "44222691", "evidence": [ { "id": "rs3389543536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389543536" } ] } ] }, { "uniprot_canonical_ac": "Q99PL7-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Val119", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44222707", "evidence": [ { "id": "rs254613087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254613087" } ] } ] }, { "uniprot_canonical_ac": "Q99PL7-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Glu165", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44224263", "evidence": [ { "id": "rs581657305", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581657305" } ] } ] }, { "uniprot_canonical_ac": "Q99PL7-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Arg175", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44224292", "evidence": [ { "id": "rs217257851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217257851" } ] } ] }, { "uniprot_canonical_ac": "Q99PL7-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Trp184", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44224318", "evidence": [ { "id": "rs3389550771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389550771" } ] } ] }, { "uniprot_canonical_ac": "Q99PL7-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Lys196", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44224356", "evidence": [ { "id": "rs3389508598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389508598" } ] } ] }, { "uniprot_canonical_ac": "Q99PL7-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Asp307", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44230137", "evidence": [ { "id": "rs3389534346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389534346" } ] } ] }, { "uniprot_canonical_ac": "Q99PL7-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Thr320", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44230177", "evidence": [ { "id": "rs249093426", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249093426" } ] } ] }, { "uniprot_canonical_ac": "Q99PL7-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Gly354", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44230279", "evidence": [ { "id": "rs3389550770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389550770" } ] } ] }, { "uniprot_canonical_ac": "Q99PL7-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Gly359", "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": "44230293", "evidence": [ { "id": "rs235322624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235322624" } ] } ] }, { "uniprot_canonical_ac": "Q99PL7-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Tyr41", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44203934", "evidence": [ { "id": "rs38311456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs38311456" } ] } ] }, { "uniprot_canonical_ac": "Q99PL7-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Leu5", "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": "44191972", "evidence": [ { "id": "rs3389553587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389553587" } ] } ] }, { "uniprot_canonical_ac": "Q99PL7-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Glu70", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44204021", "evidence": [ { "id": "rs3389520728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389520728" } ] } ] }, { "uniprot_canonical_ac": "Q99PL7-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Val84", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44204063", "evidence": [ { "id": "rs223941512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223941512" } ] } ] }, { "uniprot_canonical_ac": "Q99PL7-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Ala86", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44204070", "evidence": [ { "id": "rs3389543483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389543483" } ] } ] }, { "uniprot_canonical_ac": "Q99PL7-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Leu98", "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": "44204105", "evidence": [ { "id": "rs248507105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248507105" } ] } ] } ], "record_id": "Q99PL7-1" }, { "uniprot_canonical_ac": "Q99PL8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99PL8", "url": "https://www.uniprot.org/uniprotkb/Q99PL8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 488, "chemical_mass": 55073.0, "gene_names": "Slc19a3;A230084E24Rik;Slc19a3;ThTr2", "protein_name": "Thiamine transporter 2", "disease": [ { "disease_id": "DOID:0050659", "name": "biotin-responsive basal ganglia disease", "description": "A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia.", "url": "https://disease-ontology.org/term/DOID:0050659", "evidence": [ { "id": "0050659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050659" } ], "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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99PL8", "url": "https://www.uniprot.org/uniprotkb/Q99PL8" } ], "pmid": "" } ], "biological_process": [ { "name": "thiamine diphosphate biosynthetic process", "id": "GO:0009229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009229", "evidence": [ { "database": "UniProtKB", "id": "Q99PL8", "url": "https://www.uniprot.org/uniprotkb/Q99PL8" } ], "pmid": "" }, { "name": "thiamine transport", "id": "GO:0015888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015888", "evidence": [ { "database": "UniProtKB", "id": "Q99PL8", "url": "https://www.uniprot.org/uniprotkb/Q99PL8" } ], "pmid": "" }, { "name": "thiamine transmembrane transport", "id": "GO:0071934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071934", "evidence": [ { "database": "UniProtKB", "id": "Q99PL8", "url": "https://www.uniprot.org/uniprotkb/Q99PL8" } ], "pmid": "" }, { "name": "pyridoxine transport", "id": "GO:0031923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031923", "evidence": [ { "database": "UniProtKB", "id": "Q99PL8", "url": "https://www.uniprot.org/uniprotkb/Q99PL8" } ], "pmid": "" } ], "molecular_function": [ { "name": "thiamine transmembrane transporter activity", "id": "GO:0015234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015234", "evidence": [ { "database": "UniProtKB", "id": "Q99PL8", "url": "https://www.uniprot.org/uniprotkb/Q99PL8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99PL8-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Asn358", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 358, "start_aa": "Asn", "end_pos": 358, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn358", "evidence": [ { "id": "Q99PL8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99PL8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99PL8-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Asn46", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 46, "start_aa": "Asn", "end_pos": 46, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn46", "evidence": [ { "id": "Q99PL8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99PL8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99PL8-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Pro169", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Can mediate pyridoxine transport; when associated with Q-87; G-88; I-92; T-94; W-95 and N-174.", "evidence": [ { "database": "UniProtKB", "id": "Q99PL8", "url": "https://www.uniprot.org/uniprotkb/Q99PL8" }, { "database": "PubMed", "id": "35724964", "url": "https://glygen.org/publication/PubMed/35724964" } ] } ] }, { "uniprot_canonical_ac": "Q99PL8-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Phe174", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "N", "comment": "Can mediate pyridoxine transport; when associated with Q-87; G-88; I-92; T-94; W-95 and S-169.", "evidence": [ { "database": "UniProtKB", "id": "Q99PL8", "url": "https://www.uniprot.org/uniprotkb/Q99PL8" }, { "database": "PubMed", "id": "35724964", "url": "https://glygen.org/publication/PubMed/35724964" } ] } ] }, { "uniprot_canonical_ac": "Q99PL8-1", "start_pos": "87", "end_pos": "87", "site_lbl": "His87", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Can mediate pyridoxine transport; when associated with G-88; I-92; T-94; W-95; S-169 and N-174.", "evidence": [ { "database": "UniProtKB", "id": "Q99PL8", "url": "https://www.uniprot.org/uniprotkb/Q99PL8" }, { "database": "PubMed", "id": "35724964", "url": "https://glygen.org/publication/PubMed/35724964" } ] } ] }, { "uniprot_canonical_ac": "Q99PL8-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Val88", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Can mediate pyridoxine transport; when associated with Q-87; I-92; T-94; W-95; S-169 and N-174.", "evidence": [ { "database": "UniProtKB", "id": "Q99PL8", "url": "https://www.uniprot.org/uniprotkb/Q99PL8" }, { "database": "PubMed", "id": "35724964", "url": "https://glygen.org/publication/PubMed/35724964" } ] } ] }, { "uniprot_canonical_ac": "Q99PL8-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Ala92", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "I", "comment": "Can mediate pyridoxine transport; when associated with Q-87; G-88; T-94; W-95; S-169 and N-174.", "evidence": [ { "database": "UniProtKB", "id": "Q99PL8", "url": "https://www.uniprot.org/uniprotkb/Q99PL8" }, { "database": "PubMed", "id": "35724964", "url": "https://glygen.org/publication/PubMed/35724964" } ] } ] }, { "uniprot_canonical_ac": "Q99PL8-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Ser94", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Can mediate pyridoxine transport; when associated with Q-87; G-88; I-92; W-95; S-169 and N-174.", "evidence": [ { "database": "UniProtKB", "id": "Q99PL8", "url": "https://www.uniprot.org/uniprotkb/Q99PL8" }, { "database": "PubMed", "id": "35724964", "url": "https://glygen.org/publication/PubMed/35724964" } ] } ] }, { "uniprot_canonical_ac": "Q99PL8-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Tyr95", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "W", "comment": "Can mediate pyridoxine transport; when associated with Q-87; G-88; I-92; T-94; S-169 and N-174.", "evidence": [ { "database": "UniProtKB", "id": "Q99PL8", "url": "https://www.uniprot.org/uniprotkb/Q99PL8" }, { "database": "PubMed", "id": "35724964", "url": "https://glygen.org/publication/PubMed/35724964" } ] } ] } ], "record_id": "Q99PL8-1" }, { "uniprot_canonical_ac": "Q9CZN4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CZN4", "url": "https://www.uniprot.org/uniprotkb/Q9CZN4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 424, "chemical_mass": 46842.0, "gene_names": "Shisa9;2700045P11Rik;Ckamp44;Shisa9", "protein_name": "Protein shisa-9", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9CZN4", "url": "https://www.uniprot.org/uniprotkb/Q9CZN4" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor complex", "id": "GO:0008328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008328", "evidence": [ { "database": "UniProtKB", "id": "Q9CZN4", "url": "https://www.uniprot.org/uniprotkb/Q9CZN4" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q9CZN4", "url": "https://www.uniprot.org/uniprotkb/Q9CZN4" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9CZN4", "url": "https://www.uniprot.org/uniprotkb/Q9CZN4" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q9CZN4", "url": "https://www.uniprot.org/uniprotkb/Q9CZN4" } ], "pmid": "" }, { "name": "AMPA glutamate receptor complex", "id": "GO:0032281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032281", "evidence": [ { "database": "UniProtKB", "id": "Q9CZN4", "url": "https://www.uniprot.org/uniprotkb/Q9CZN4" } ], "pmid": "" }, { "name": "dendritic spine membrane", "id": "GO:0032591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032591", "evidence": [ { "database": "UniProtKB", "id": "Q9CZN4", "url": "https://www.uniprot.org/uniprotkb/Q9CZN4" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q9CZN4", "url": "https://www.uniprot.org/uniprotkb/Q9CZN4" } ], "pmid": "" } ], "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": "Q9CZN4", "url": "https://www.uniprot.org/uniprotkb/Q9CZN4" } ], "pmid": "" }, { "name": "regulation of AMPA receptor activity", "id": "GO:2000311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000311", "evidence": [ { "database": "UniProtKB", "id": "Q9CZN4", "url": "https://www.uniprot.org/uniprotkb/Q9CZN4" } ], "pmid": "" } ], "molecular_function": [ { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "Q9CZN4", "url": "https://www.uniprot.org/uniprotkb/Q9CZN4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CZN4-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Asn116", "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": "LNQSTCTNYDTPLWLNTGKPPAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 116, "start_aa": "Asn", "end_pos": 116, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn116", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 116, "start_aa": "Asn", "end_pos": 116, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn116", "evidence": [ { "id": "Q9CZN4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9CZN4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9CZN4-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Asn45", "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": "SGHGQLAQLGGVLLLTGGNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 45, "start_aa": "Asn", "end_pos": 45, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn45", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 45, "start_aa": "Asn", "end_pos": 45, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn45", "evidence": [ { "id": "Q9CZN4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9CZN4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9CZN4-1", "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": "Q9CZN4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9CZN4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9CZN4-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Ala238", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNA->NNT).", "chr_id": "16", "chr_pos": "12062492", "evidence": [ { "id": "rs4162495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4162495" } ] } ] } ], "record_id": "Q9CZN4-1" }, { "uniprot_canonical_ac": "Q9D1M0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 322, "chemical_mass": 35566.0, "gene_names": "Sec13;1110003H02Rik;Sec13l1;Sec13r;Sec13", "protein_name": "Protein SEC13 homolog", "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 } ], "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": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "COPII-coated vesicle cargo loading", "id": "GO:0090110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090110", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "nucleocytoplasmic transport", "id": "GO:0006913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006913", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "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": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "positive regulation of TOR signaling", "id": "GO:0032008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "COPII-coated vesicle budding", "id": "GO:0090114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090114", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "protein exit from endoplasmic reticulum", "id": "GO:0032527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032527", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear pore outer ring", "id": "GO:0031080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031080", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "nuclear pore", "id": "GO:0005643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005643", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "COPII vesicle coat", "id": "GO:0030127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030127", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "GATOR2 complex", "id": "GO:0061700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061700", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D1M0-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Ser184", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ] } ] }, { "uniprot_canonical_ac": "Q9D1M0-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ser309", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D1M0", "url": "https://www.uniprot.org/uniprotkb/Q9D1M0" } ] } ] } ], "record_id": "Q9D1M0-1" }, { "uniprot_canonical_ac": "Q9EPK6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EPK6", "url": "https://www.uniprot.org/uniprotkb/Q9EPK6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 465, "chemical_mass": 52430.0, "gene_names": "Sil1;1810057E01Rik;Sil1;wz", "protein_name": "Nucleotide exchange factor SIL1", "disease": [ { "disease_id": "DOID:0080195", "name": "Marinesco-Sjogren syndrome", "description": "A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.", "url": "https://disease-ontology.org/term/DOID:0080195", "evidence": [ { "id": "0080195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080195" } ], "weight": 0.0 }, { "disease_id": "DOID:9277", "name": "primary cerebellar degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:9277", "evidence": [ { "id": "9277", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9277" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK6", "url": "https://www.uniprot.org/uniprotkb/Q9EPK6" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK6", "url": "https://www.uniprot.org/uniprotkb/Q9EPK6" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK6", "url": "https://www.uniprot.org/uniprotkb/Q9EPK6" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK6", "url": "https://www.uniprot.org/uniprotkb/Q9EPK6" } ], "pmid": "" }, { "name": "adenyl-nucleotide exchange factor activity", "id": "GO:0000774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000774", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK6", "url": "https://www.uniprot.org/uniprotkb/Q9EPK6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EPK6-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Asn197", "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": 197, "start_aa": "Asn", "end_pos": 197, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn197", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2568", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2568" } ] }, { "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": 197, "start_aa": "Asn", "end_pos": 197, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn197", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2568", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2568" } ] }, { "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": 197, "start_aa": "Asn", "end_pos": 197, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn197", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2568", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2568" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FNSSSSSLEEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 197, "start_aa": "Asn", "end_pos": 197, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn197", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 197, "start_aa": "Asn", "end_pos": 197, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn197", "evidence": [ { "id": "Q9EPK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9EPK6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9EPK6-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Asn240", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 240, "start_aa": "Asn", "end_pos": 240, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn240", "evidence": [ { "id": "Q9EPK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9EPK6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9EPK6-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Thr78", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 78, "start_aa": "Thr", "end_pos": 78, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr78", "evidence": [ { "id": "39950214", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39950214" }, { "id": "Q9EPK6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9EPK6" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" } ] } ] } ], "record_id": "Q9EPK6-1" }, { "uniprot_canonical_ac": "Q9JIP7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 709, "chemical_mass": 78560.0, "gene_names": "Slc15a1;D630032F02;PECT1;PEPT1;Pept1;Slc15a1", "protein_name": "Solute carrier family 15 member 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": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" } ], "pmid": "" }, { "name": "oligopeptide transport", "id": "GO:0006857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006857", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" } ], "pmid": "" }, { "name": "dipeptide import across plasma membrane", "id": "GO:0140206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140206", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" } ], "pmid": "" }, { "name": "negative regulation of amino acid transport", "id": "GO:0051956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051956", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" } ], "pmid": "" } ], "molecular_function": [ { "name": "proton-dependent oligopeptide secondary active transmembrane transporter activity", "id": "GO:0005427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005427", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" } ], "pmid": "" }, { "name": "peptide:proton symporter activity", "id": "GO:0015333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015333", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" } ], "pmid": "" }, { "name": "channel inhibitor activity", "id": "GO:0016248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016248", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" } ], "pmid": "" }, { "name": "tripeptide transmembrane transporter activity", "id": "GO:0042937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042937", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" } ], "pmid": "" }, { "name": "dipeptide transmembrane transporter activity", "id": "GO:0071916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071916", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JIP7-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Asn406", "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": 406, "start_aa": "Asn", "end_pos": 406, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn406", "evidence": [ { "id": "Q9JIP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7#ptm_processing" }, { "id": "28336547", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28336547" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" }, { "id": "26585416", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26585416" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ] }, { "uniprot_canonical_ac": "Q9JIP7-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Asn439", "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": 439, "start_aa": "Asn", "end_pos": 439, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn439", "evidence": [ { "id": "Q9JIP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "28336547", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28336547" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" }, { "id": "26585416", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26585416" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ] }, { "uniprot_canonical_ac": "Q9JIP7-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Asn50", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": 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": "Q9JIP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7#ptm_processing" }, { "id": "28336547", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28336547" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" }, { "id": "26585416", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26585416" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->DLS).", "chr_id": "14", "chr_pos": "121728502", "evidence": [ { "id": "rs45659504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45659504" } ] } ] }, { "uniprot_canonical_ac": "Q9JIP7-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Asn510", "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": 510, "start_aa": "Asn", "end_pos": 510, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn510", "evidence": [ { "id": "28336547", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28336547" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" }, { "id": "26585416", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26585416" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->IVT).", "chr_id": "14", "chr_pos": "121703580", "evidence": [ { "id": "rs3389347601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389347601" } ] } ] }, { "uniprot_canonical_ac": "Q9JIP7-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Asn515", "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": 515, "start_aa": "Asn", "end_pos": 515, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn515", "evidence": [ { "id": "Q9JIP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "28336547", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28336547" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" }, { "id": "26585416", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26585416" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Does not affect trypsin-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" }, { "database": "PubMed", "id": "26320580", "url": "https://glygen.org/publication/PubMed/26320580" } ] } ] }, { "uniprot_canonical_ac": "Q9JIP7-1", "start_pos": "532", "end_pos": "532", "site_lbl": "Asn532", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": 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": "Q9JIP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7#ptm_processing" }, { "id": "28336547", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28336547" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" }, { "id": "26585416", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26585416" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTT->KTT).", "chr_id": "14", "chr_pos": "121703384", "evidence": [ { "id": "rs3389271537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389271537" } ] } ] }, { "uniprot_canonical_ac": "Q9JIP7-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Asp476", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Does not affect trypsin-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" }, { "database": "PubMed", "id": "26320580", "url": "https://glygen.org/publication/PubMed/26320580" } ] } ] }, { "uniprot_canonical_ac": "Q9JIP7-1", "start_pos": "509", "end_pos": "509", "site_lbl": "Glu509", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "R", "comment": "Does not affect trypsin-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" }, { "database": "PubMed", "id": "26320580", "url": "https://glygen.org/publication/PubMed/26320580" } ] } ] }, { "uniprot_canonical_ac": "Q9JIP7-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Asp550", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Reduced trypsin-binding; when associated with A-573.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" }, { "database": "PubMed", "id": "26320580", "url": "https://glygen.org/publication/PubMed/26320580" } ] } ] }, { "uniprot_canonical_ac": "Q9JIP7-1", "start_pos": "573", "end_pos": "573", "site_lbl": "Glu573", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Reduced trypsin-binding; when associated with A-550.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP7", "url": "https://www.uniprot.org/uniprotkb/Q9JIP7" }, { "database": "PubMed", "id": "26320580", "url": "https://glygen.org/publication/PubMed/26320580" } ] } ] } ], "record_id": "Q9JIP7-1" }, { "uniprot_canonical_ac": "Q9Z0U9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z0U9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0U9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 378, "chemical_mass": 42270.0, "gene_names": "S1pr3;Edg3;Lpb3;S1p3;S1pr3", "protein_name": "Sphingosine 1-phosphate receptor 3", "disease": [], "biological_process": [ { "name": "regulation of interleukin-1 beta production", "id": "GO:0032651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032651", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0U9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0U9" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0U9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0U9" } ], "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": "Q9Z0U9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0U9" } ], "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": "Q9Z0U9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0U9" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0U9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0U9" } ], "pmid": "" }, { "name": "negative regulation of establishment of endothelial barrier", "id": "GO:1903141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903141", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0U9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0U9" } ], "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": "Q9Z0U9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0U9" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0U9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0U9" } ], "pmid": "" }, { "name": "sphingosine-1-phosphate receptor activity", "id": "GO:0038036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038036", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0U9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0U9" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0U9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0U9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0U9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0U9" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0U9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0U9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z0U9-1", "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": "ATTHAQGHQPVLGNDTLR", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "Q9Z0U9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Z0U9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0U9-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Ser326", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0U9", "url": "https://www.uniprot.org/uniprotkb/Q9Z0U9" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0U9-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Pro184", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFP->NFT).", "chr_id": "13", "chr_pos": "51573370", "evidence": [ { "id": "rs3550200095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550200095" } ] } ] } ], "record_id": "Q9Z0U9-1" }, { "uniprot_canonical_ac": "Q9Z1W5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 66, "chemical_mass": 7374.0, "gene_names": "Serp1;D3Ucla1;Ramp4;Serp1", "protein_name": "Stress-associated endoplasmic reticulum protein 1", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W5" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W5" } ], "pmid": "" }, { "name": "cytoplasmic microtubule", "id": "GO:0005881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005881", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W5" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W5" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W5" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W5" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W5" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W5" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W5" } ], "pmid": "" }, { "name": "positive regulation of organ growth", "id": "GO:0046622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046622", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W5" } ], "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": "Q9Z1W5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W5" } ], "pmid": "" }, { "name": "muscle organ morphogenesis", "id": "GO:0048644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048644", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1W5", "url": "https://www.uniprot.org/uniprotkb/Q9Z1W5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9Z1W5-1" }, { "uniprot_canonical_ac": "A0A075B5W3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B5W3", "url": "https://www.uniprot.org/uniprotkb/A0A075B5W3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 117, "chemical_mass": 12792.0, "gene_names": "Ighv1-53", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5W3", "url": "https://www.uniprot.org/uniprotkb/A0A075B5W3" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5W3", "url": "https://www.uniprot.org/uniprotkb/A0A075B5W3" } ], "pmid": "" } ], "molecular_function": [ { "name": "antigen binding", "id": "GO:0003823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003823", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5W3", "url": "https://www.uniprot.org/uniprotkb/A0A075B5W3" } ], "pmid": "" } ], "biological_process": [ { "name": "immunoglobulin mediated immune response", "id": "GO:0016064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016064", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5W3", "url": "https://www.uniprot.org/uniprotkb/A0A075B5W3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B5W3-1" }, { "uniprot_canonical_ac": "A0A075B5X4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B5X4", "url": "https://www.uniprot.org/uniprotkb/A0A075B5X4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 119, "chemical_mass": 13082.0, "gene_names": "Ighv8-11", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5X4", "url": "https://www.uniprot.org/uniprotkb/A0A075B5X4" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5X4", "url": "https://www.uniprot.org/uniprotkb/A0A075B5X4" } ], "pmid": "" } ], "molecular_function": [ { "name": "antigen binding", "id": "GO:0003823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003823", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5X4", "url": "https://www.uniprot.org/uniprotkb/A0A075B5X4" } ], "pmid": "" } ], "biological_process": [ { "name": "immunoglobulin mediated immune response", "id": "GO:0016064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016064", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5X4", "url": "https://www.uniprot.org/uniprotkb/A0A075B5X4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B5X4-1" }, { "uniprot_canonical_ac": "A0A075B5X5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B5X5", "url": "https://www.uniprot.org/uniprotkb/A0A075B5X5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 117, "chemical_mass": 12922.0, "gene_names": "Ighv1-66", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5X5", "url": "https://www.uniprot.org/uniprotkb/A0A075B5X5" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5X5", "url": "https://www.uniprot.org/uniprotkb/A0A075B5X5" } ], "pmid": "" } ], "molecular_function": [ { "name": "antigen binding", "id": "GO:0003823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003823", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5X5", "url": "https://www.uniprot.org/uniprotkb/A0A075B5X5" } ], "pmid": "" } ], "biological_process": [ { "name": "immunoglobulin mediated immune response", "id": "GO:0016064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016064", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5X5", "url": "https://www.uniprot.org/uniprotkb/A0A075B5X5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B5X5-1" }, { "uniprot_canonical_ac": "A0A140T8Q5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A140T8Q5", "url": "https://www.uniprot.org/uniprotkb/A0A140T8Q5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 498, "chemical_mass": 57811.0, "gene_names": "Btbd35f21;Btbd35f1;Btbd35f21;Gm21951;Gmcl1l;Gmcl1p1;Gmcl2;Mgclh", "protein_name": "", "disease": [], "biological_process": [ { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8Q5", "url": "https://www.uniprot.org/uniprotkb/A0A140T8Q5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A140T8Q5-1" }, { "uniprot_canonical_ac": "A0A140T8U3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A140T8U3", "url": "https://www.uniprot.org/uniprotkb/A0A140T8U3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 855, "chemical_mass": 97530.0, "gene_names": "Vmn2r130;Vmn2r-ps130;Vmn2r130", "protein_name": "", "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": "A0A140T8U3", "url": "https://www.uniprot.org/uniprotkb/A0A140T8U3" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8U3", "url": "https://www.uniprot.org/uniprotkb/A0A140T8U3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A140T8U3-1" }, { "uniprot_canonical_ac": "A0A1B0GRQ9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GRQ9", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GRQ9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 28, "chemical_mass": 3207.0, "gene_names": "Gm15517;Gm15517", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1B0GRQ9-1" }, { "uniprot_canonical_ac": "A0A1B0GSG0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSG0", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSG0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 314, "chemical_mass": 35337.0, "gene_names": "Or52b4i;MOR31-13;Olfr548-ps1;Olfr548;Or52b4i", "protein_name": "Olfactory receptor", "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": "A0A1B0GSG0", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSG0" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSG0", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSG0" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSG0", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSG0" } ], "pmid": "" } ], "biological_process": [ { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSG0", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSG0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1B0GSG0-1" }, { "uniprot_canonical_ac": "A0A1L1STL1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1L1STL1", "url": "https://www.uniprot.org/uniprotkb/A0A1L1STL1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 316, "chemical_mass": 35493.0, "gene_names": "Or12e14;MOR264-11;Olfr1150-ps1;Olfr1150;Or12e14", "protein_name": "Olfactory receptor", "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": "A0A1L1STL1", "url": "https://www.uniprot.org/uniprotkb/A0A1L1STL1" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "A0A1L1STL1", "url": "https://www.uniprot.org/uniprotkb/A0A1L1STL1" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A1L1STL1", "url": "https://www.uniprot.org/uniprotkb/A0A1L1STL1" } ], "pmid": "" } ], "biological_process": [ { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "A0A1L1STL1", "url": "https://www.uniprot.org/uniprotkb/A0A1L1STL1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1L1STL1-1" }, { "uniprot_canonical_ac": "A0A1Y7VHD7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1Y7VHD7", "url": "https://www.uniprot.org/uniprotkb/A0A1Y7VHD7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 7, "chemical_mass": 793.0, "gene_names": "Ighd1-3;Gm16968", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1Y7VHD7-1" }, { "uniprot_canonical_ac": "A0A286YDE9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A286YDE9", "url": "https://www.uniprot.org/uniprotkb/A0A286YDE9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 180, "chemical_mass": 20610.0, "gene_names": "Tcstv7b;Gm21731", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A286YDE9-1" }, { "uniprot_canonical_ac": "A2A5X3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2A5X3", "url": "https://www.uniprot.org/uniprotkb/A2A5X3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 358, "chemical_mass": 38107.0, "gene_names": "Krtap9-5;Krtap9-5", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2A5X3", "url": "https://www.uniprot.org/uniprotkb/A2A5X3" } ], "pmid": "" }, { "name": "keratin filament", "id": "GO:0045095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045095", "evidence": [ { "database": "UniProtKB", "id": "A2A5X3", "url": "https://www.uniprot.org/uniprotkb/A2A5X3" } ], "pmid": "" } ], "biological_process": [ { "name": "hair cycle", "id": "GO:0042633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042633", "evidence": [ { "database": "UniProtKB", "id": "A2A5X3", "url": "https://www.uniprot.org/uniprotkb/A2A5X3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A2A5X3-1" }, { "uniprot_canonical_ac": "A2A716-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2A716", "url": "https://www.uniprot.org/uniprotkb/A2A716" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 837, "chemical_mass": 95030.0, "gene_names": "Osbpl7;4933437E18Rik;Osbpl7", "protein_name": "Oxysterol-binding protein", "disease": [ { "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 } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2A716", "url": "https://www.uniprot.org/uniprotkb/A2A716" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A2A716", "url": "https://www.uniprot.org/uniprotkb/A2A716" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "A2A716", "url": "https://www.uniprot.org/uniprotkb/A2A716" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum", "id": "GO:0097038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097038", "evidence": [ { "database": "UniProtKB", "id": "A2A716", "url": "https://www.uniprot.org/uniprotkb/A2A716" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "A2A716", "url": "https://www.uniprot.org/uniprotkb/A2A716" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "A2A716", "url": "https://www.uniprot.org/uniprotkb/A2A716" } ], "pmid": "" } ], "biological_process": [ { "name": "bile acid biosynthetic process", "id": "GO:0006699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006699", "evidence": [ { "database": "UniProtKB", "id": "A2A716", "url": "https://www.uniprot.org/uniprotkb/A2A716" } ], "pmid": "" }, { "name": "cellular response to cholesterol", "id": "GO:0071397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071397", "evidence": [ { "database": "UniProtKB", "id": "A2A716", "url": "https://www.uniprot.org/uniprotkb/A2A716" } ], "pmid": "" }, { "name": "positive regulation of proteasomal protein catabolic process", "id": "GO:1901800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901800", "evidence": [ { "database": "UniProtKB", "id": "A2A716", "url": "https://www.uniprot.org/uniprotkb/A2A716" } ], "pmid": "" } ], "molecular_function": [ { "name": "cholesterol binding", "id": "GO:0015485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015485", "evidence": [ { "database": "UniProtKB", "id": "A2A716", "url": "https://www.uniprot.org/uniprotkb/A2A716" } ], "pmid": "" }, { "name": "sterol transfer activity", "id": "GO:0120015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120015", "evidence": [ { "database": "UniProtKB", "id": "A2A716", "url": "https://www.uniprot.org/uniprotkb/A2A716" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2A716-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Asn270", "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": "LHGSVPNLSR", "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" } ] } ] } ], "record_id": "A2A716-1" }, { "uniprot_canonical_ac": "A2AKE5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AKE5", "url": "https://www.uniprot.org/uniprotkb/A2AKE5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 210, "chemical_mass": 23580.0, "gene_names": "1700003F12Rik;1700003F12Rik", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2AKE5-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Asn3", "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": "MGNSSSHKR", "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": "A2AKE5-1" }, { "uniprot_canonical_ac": "A2ARK7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2ARK7", "url": "https://www.uniprot.org/uniprotkb/A2ARK7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 233, "chemical_mass": 26593.0, "gene_names": "Samt3;1700072E05Rik;Samt3", "protein_name": "", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A2ARK7", "url": "https://www.uniprot.org/uniprotkb/A2ARK7" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "A2ARK7", "url": "https://www.uniprot.org/uniprotkb/A2ARK7" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "A2ARK7", "url": "https://www.uniprot.org/uniprotkb/A2ARK7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A2ARK7-1" }, { "uniprot_canonical_ac": "A2CFD5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2CFD5", "url": "https://www.uniprot.org/uniprotkb/A2CFD5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 498, "chemical_mass": 57775.0, "gene_names": "Btbd35f28;Btbd35f28;Gm14347", "protein_name": "", "disease": [], "biological_process": [ { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "A2CFD5", "url": "https://www.uniprot.org/uniprotkb/A2CFD5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A2CFD5-1" }, { "uniprot_canonical_ac": "D3YTX4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3YTX4", "url": "https://www.uniprot.org/uniprotkb/D3YTX4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 307, "chemical_mass": 34523.0, "gene_names": "Vmn1r124;670764;Gm9500;Vmn1r124", "protein_name": "Vomeronasal type-1 receptor", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "D3YTX4", "url": "https://www.uniprot.org/uniprotkb/D3YTX4" } ], "pmid": "" } ], "biological_process": [ { "name": "response to pheromone", "id": "GO:0019236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019236", "evidence": [ { "database": "UniProtKB", "id": "D3YTX4", "url": "https://www.uniprot.org/uniprotkb/D3YTX4" } ], "pmid": "" }, { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "D3YTX4", "url": "https://www.uniprot.org/uniprotkb/D3YTX4" } ], "pmid": "" } ], "molecular_function": [ { "name": "pheromone binding", "id": "GO:0005550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005550", "evidence": [ { "database": "UniProtKB", "id": "D3YTX4", "url": "https://www.uniprot.org/uniprotkb/D3YTX4" } ], "pmid": "" }, { "name": "pheromone receptor activity", "id": "GO:0016503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016503", "evidence": [ { "database": "UniProtKB", "id": "D3YTX4", "url": "https://www.uniprot.org/uniprotkb/D3YTX4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3YTX4-1" }, { "uniprot_canonical_ac": "E9PXN3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PXN3", "url": "https://www.uniprot.org/uniprotkb/E9PXN3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 311, "chemical_mass": 35280.0, "gene_names": "Or52b4;MOR31-4;Olfr547;Olfr548-ps1;Or52b4", "protein_name": "Olfactory receptor", "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": "E9PXN3", "url": "https://www.uniprot.org/uniprotkb/E9PXN3" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "E9PXN3", "url": "https://www.uniprot.org/uniprotkb/E9PXN3" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9PXN3", "url": "https://www.uniprot.org/uniprotkb/E9PXN3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "E9PXN3", "url": "https://www.uniprot.org/uniprotkb/E9PXN3" } ], "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": "E9PXN3", "url": "https://www.uniprot.org/uniprotkb/E9PXN3" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "E9PXN3", "url": "https://www.uniprot.org/uniprotkb/E9PXN3" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "E9PXN3", "url": "https://www.uniprot.org/uniprotkb/E9PXN3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PXN3-1" }, { "uniprot_canonical_ac": "E9Q6S4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q6S4", "url": "https://www.uniprot.org/uniprotkb/E9Q6S4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 354, "chemical_mass": 41541.0, "gene_names": "Gm17067", "protein_name": "", "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": "E9Q6S4", "url": "https://www.uniprot.org/uniprotkb/E9Q6S4" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "E9Q6S4", "url": "https://www.uniprot.org/uniprotkb/E9Q6S4" } ], "pmid": "" }, { "name": "regulation of immune system process", "id": "GO:0002682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002682", "evidence": [ { "database": "UniProtKB", "id": "E9Q6S4", "url": "https://www.uniprot.org/uniprotkb/E9Q6S4" } ], "pmid": "" }, { "name": "regulation of cytokine production", "id": "GO:0001817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001817", "evidence": [ { "database": "UniProtKB", "id": "E9Q6S4", "url": "https://www.uniprot.org/uniprotkb/E9Q6S4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "E9Q6S4", "url": "https://www.uniprot.org/uniprotkb/E9Q6S4" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9Q6S4", "url": "https://www.uniprot.org/uniprotkb/E9Q6S4" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E9Q6S4", "url": "https://www.uniprot.org/uniprotkb/E9Q6S4" } ], "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": "E9Q6S4", "url": "https://www.uniprot.org/uniprotkb/E9Q6S4" } ], "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": "E9Q6S4", "url": "https://www.uniprot.org/uniprotkb/E9Q6S4" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "E9Q6S4", "url": "https://www.uniprot.org/uniprotkb/E9Q6S4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q6S4-1" }, { "uniprot_canonical_ac": "E9Q7C5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q7C5", "url": "https://www.uniprot.org/uniprotkb/E9Q7C5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 316, "chemical_mass": 35797.0, "gene_names": "Or52a5b;3'[b]3;3'beta3;MOR22-2;Olfr69;Or52a5b", "protein_name": "Olfactory receptor", "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": "E9Q7C5", "url": "https://www.uniprot.org/uniprotkb/E9Q7C5" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "E9Q7C5", "url": "https://www.uniprot.org/uniprotkb/E9Q7C5" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9Q7C5", "url": "https://www.uniprot.org/uniprotkb/E9Q7C5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "E9Q7C5", "url": "https://www.uniprot.org/uniprotkb/E9Q7C5" } ], "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": "E9Q7C5", "url": "https://www.uniprot.org/uniprotkb/E9Q7C5" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "E9Q7C5", "url": "https://www.uniprot.org/uniprotkb/E9Q7C5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q7C5-1" }, { "uniprot_canonical_ac": "E9Q7R9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1682, "chemical_mass": 193426.0, "gene_names": "Cfap43;4632415N18Rik;4930428C11Rik;4930463G05Rik;Cfap43;D19Ertd652e;Wdr96", "protein_name": "Cilia- and flagella-associated protein 43", "disease": [ { "disease_id": "DOID:0070170", "name": "spermatogenic failure 19", "description": "A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25.", "url": "https://disease-ontology.org/term/DOID:0070170", "evidence": [ { "id": "0070170", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070170" } ], "weight": 0.0 }, { "disease_id": "DOID:1572", "name": "normal pressure hydrocephalus", "description": "A communicating hydrocephalus characterized by normal cerebrospinal fluid pressure, gait instability, cognitive decline, and impaired bladder control. Onset is usually in late adulthood.", "url": "https://disease-ontology.org/term/DOID:1572", "evidence": [ { "id": "1572", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1572" } ], "weight": 0.0 } ], "biological_process": [ { "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": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "pmid": "" }, { "name": "motile cilium assembly", "id": "GO:0044458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044458", "evidence": [ { "database": "UniProtKB", "id": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "pmid": "" }, { "name": "regulation of cilium beat frequency", "id": "GO:0003356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003356", "evidence": [ { "database": "UniProtKB", "id": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "pmid": "" }, { "name": "cilium organization", "id": "GO:0044782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044782", "evidence": [ { "database": "UniProtKB", "id": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "pmid": "" }, { "name": "sperm axoneme assembly", "id": "GO:0007288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007288", "evidence": [ { "database": "UniProtKB", "id": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "pmid": "" }, { "name": "nucleus organization", "id": "GO:0006997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006997", "evidence": [ { "database": "UniProtKB", "id": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "pmid": "" }, { "name": "cerebrospinal fluid circulation", "id": "GO:0090660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090660", "evidence": [ { "database": "UniProtKB", "id": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "pmid": "" }, { "name": "mucociliary clearance", "id": "GO:0120197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120197", "evidence": [ { "database": "UniProtKB", "id": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "pmid": "" }, { "name": "9+2 motile cilium", "id": "GO:0097729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097729", "evidence": [ { "database": "UniProtKB", "id": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "E9Q7R9", "url": "https://www.uniprot.org/uniprotkb/E9Q7R9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q7R9-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Thr413", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 413, "start_aa": "Thr", "end_pos": 413, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr413", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q7R9-1", "start_pos": "1630", "end_pos": "1630", "site_lbl": "Lys1630", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KLT->NLT).", "chr_id": "19", "chr_pos": "47726319", "evidence": [ { "id": "rs3389525214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389525214" } ] } ] } ], "record_id": "E9Q7R9-1" }, { "uniprot_canonical_ac": "E9QAW0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9QAW0", "url": "https://www.uniprot.org/uniprotkb/E9QAW0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 468, "chemical_mass": 52597.0, "gene_names": "Zfp213;D17Ertd197e;Zfp213", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9QAW0", "url": "https://www.uniprot.org/uniprotkb/E9QAW0" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "E9QAW0", "url": "https://www.uniprot.org/uniprotkb/E9QAW0" } ], "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": "E9QAW0", "url": "https://www.uniprot.org/uniprotkb/E9QAW0" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E9QAW0", "url": "https://www.uniprot.org/uniprotkb/E9QAW0" } ], "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": "E9QAW0", "url": "https://www.uniprot.org/uniprotkb/E9QAW0" } ], "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": "E9QAW0", "url": "https://www.uniprot.org/uniprotkb/E9QAW0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9QAW0-1" }, { "uniprot_canonical_ac": "J3QNY8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "J3QNY8", "url": "https://www.uniprot.org/uniprotkb/J3QNY8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 723, "chemical_mass": 85070.0, "gene_names": "Gm19965", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "J3QNY8", "url": "https://www.uniprot.org/uniprotkb/J3QNY8" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "J3QNY8", "url": "https://www.uniprot.org/uniprotkb/J3QNY8" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "J3QNY8", "url": "https://www.uniprot.org/uniprotkb/J3QNY8" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "J3QNY8", "url": "https://www.uniprot.org/uniprotkb/J3QNY8" } ], "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": "J3QNY8", "url": "https://www.uniprot.org/uniprotkb/J3QNY8" } ], "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": "J3QNY8", "url": "https://www.uniprot.org/uniprotkb/J3QNY8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "J3QNY8-1" }, { "uniprot_canonical_ac": "K7N6J4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "K7N6J4", "url": "https://www.uniprot.org/uniprotkb/K7N6J4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 314, "chemical_mass": 35549.0, "gene_names": "Vmn1r121;EG667240;Gm8533;Vmn1r121", "protein_name": "Vomeronasal type-1 receptor", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "K7N6J4", "url": "https://www.uniprot.org/uniprotkb/K7N6J4" } ], "pmid": "" } ], "biological_process": [ { "name": "response to pheromone", "id": "GO:0019236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019236", "evidence": [ { "database": "UniProtKB", "id": "K7N6J4", "url": "https://www.uniprot.org/uniprotkb/K7N6J4" } ], "pmid": "" }, { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "K7N6J4", "url": "https://www.uniprot.org/uniprotkb/K7N6J4" } ], "pmid": "" } ], "molecular_function": [ { "name": "pheromone binding", "id": "GO:0005550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005550", "evidence": [ { "database": "UniProtKB", "id": "K7N6J4", "url": "https://www.uniprot.org/uniprotkb/K7N6J4" } ], "pmid": "" }, { "name": "pheromone receptor activity", "id": "GO:0016503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016503", "evidence": [ { "database": "UniProtKB", "id": "K7N6J4", "url": "https://www.uniprot.org/uniprotkb/K7N6J4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "K7N6J4-1" }, { "uniprot_canonical_ac": "L7N456-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "L7N456", "url": "https://www.uniprot.org/uniprotkb/L7N456" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 481, "chemical_mass": 56076.0, "gene_names": "Pramel40;Gm6468;LOC620639;Pramel40", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "L7N456", "url": "https://www.uniprot.org/uniprotkb/L7N456" } ], "pmid": "" }, { "name": "Cul2-RING ubiquitin ligase complex", "id": "GO:0031462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031462", "evidence": [ { "database": "UniProtKB", "id": "L7N456", "url": "https://www.uniprot.org/uniprotkb/L7N456" } ], "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": "L7N456", "url": "https://www.uniprot.org/uniprotkb/L7N456" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "L7N456", "url": "https://www.uniprot.org/uniprotkb/L7N456" } ], "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": "L7N456", "url": "https://www.uniprot.org/uniprotkb/L7N456" } ], "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": "L7N456", "url": "https://www.uniprot.org/uniprotkb/L7N456" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "L7N456", "url": "https://www.uniprot.org/uniprotkb/L7N456" } ], "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": "L7N456", "url": "https://www.uniprot.org/uniprotkb/L7N456" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "L7N456-1" }, { "uniprot_canonical_ac": "Q5SSA0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5SSA0", "url": "https://www.uniprot.org/uniprotkb/Q5SSA0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 361, "chemical_mass": 41375.0, "gene_names": "Vmn1r223;Gm11330;Vmn1r223", "protein_name": "Vomeronasal type-1 receptor", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5SSA0", "url": "https://www.uniprot.org/uniprotkb/Q5SSA0" } ], "pmid": "" } ], "biological_process": [ { "name": "response to pheromone", "id": "GO:0019236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019236", "evidence": [ { "database": "UniProtKB", "id": "Q5SSA0", "url": "https://www.uniprot.org/uniprotkb/Q5SSA0" } ], "pmid": "" }, { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "Q5SSA0", "url": "https://www.uniprot.org/uniprotkb/Q5SSA0" } ], "pmid": "" } ], "molecular_function": [ { "name": "pheromone binding", "id": "GO:0005550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005550", "evidence": [ { "database": "UniProtKB", "id": "Q5SSA0", "url": "https://www.uniprot.org/uniprotkb/Q5SSA0" } ], "pmid": "" }, { "name": "pheromone receptor activity", "id": "GO:0016503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016503", "evidence": [ { "database": "UniProtKB", "id": "Q5SSA0", "url": "https://www.uniprot.org/uniprotkb/Q5SSA0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5SSA0-1" }, { "uniprot_canonical_ac": "A0A075B697-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B697", "url": "https://www.uniprot.org/uniprotkb/A0A075B697" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 116, "chemical_mass": 12481.0, "gene_names": "Ighv2-9-1", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A075B697", "url": "https://www.uniprot.org/uniprotkb/A0A075B697" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A075B697", "url": "https://www.uniprot.org/uniprotkb/A0A075B697" } ], "pmid": "" } ], "molecular_function": [ { "name": "antigen binding", "id": "GO:0003823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003823", "evidence": [ { "database": "UniProtKB", "id": "A0A075B697", "url": "https://www.uniprot.org/uniprotkb/A0A075B697" } ], "pmid": "" } ], "biological_process": [ { "name": "immunoglobulin mediated immune response", "id": "GO:0016064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016064", "evidence": [ { "database": "UniProtKB", "id": "A0A075B697", "url": "https://www.uniprot.org/uniprotkb/A0A075B697" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B697-1" }, { "uniprot_canonical_ac": "A0A0A6YW32-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YW32", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YW32" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 117, "chemical_mass": 13126.0, "gene_names": "Ighv1-37", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YW32", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YW32" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YW32", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YW32" } ], "pmid": "" } ], "biological_process": [ { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YW32", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YW32" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0A6YW32-1" }, { "uniprot_canonical_ac": "A0A0B4J1K5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1K5", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1K5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 122, "chemical_mass": 13416.0, "gene_names": "Iglv3", "protein_name": "", "disease": [], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1K5", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1K5" } ], "pmid": "" } ], "cellular_component": [ { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1K5", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1K5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4J1K5-1" }, { "uniprot_canonical_ac": "A0A0G2JDI1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JDI1", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JDI1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 13, "chemical_mass": 1389.0, "gene_names": "Igkj5", "protein_name": "", "disease": [], "biological_process": [ { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JDI1", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JDI1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0G2JDI1-1" }, { "uniprot_canonical_ac": "A0A0G2JGM9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JGM9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JGM9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 22, "chemical_mass": 2267.0, "gene_names": "Traj53", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0G2JGM9-1" }, { "uniprot_canonical_ac": "A0A140T8M3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M3", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 121, "chemical_mass": 13335.0, "gene_names": "Igkv8-30", "protein_name": "", "disease": [], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M3", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M3" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M3", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M3" } ], "pmid": "" } ], "cellular_component": [ { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M3", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A140T8M3-1" }, { "uniprot_canonical_ac": "A0A1B0GSI9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSI9", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSI9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 319, "chemical_mass": 35876.0, "gene_names": "Or56b2j", "protein_name": "", "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": "A0A1B0GSI9", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSI9" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSI9", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSI9" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSI9", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSI9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSI9", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSI9" } ], "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": "A0A1B0GSI9", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSI9" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSI9", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSI9" } ], "pmid": "" }, { "name": "cellular response to lipid", "id": "GO:0071396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071396", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSI9", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSI9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1B0GSI9-1" }, { "uniprot_canonical_ac": "A0A1L1SUL6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1L1SUL6", "url": "https://www.uniprot.org/uniprotkb/A0A1L1SUL6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 329, "chemical_mass": 36805.0, "gene_names": "Nme9;Nme9;Txl-2;Txl2;Txndc6", "protein_name": "Thioredoxin domain-containing protein 6", "disease": [], "cellular_component": [ { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "A0A1L1SUL6", "url": "https://www.uniprot.org/uniprotkb/A0A1L1SUL6" } ], "pmid": "" }, { "name": "dynein axonemal particle", "id": "GO:0120293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120293", "evidence": [ { "database": "UniProtKB", "id": "A0A1L1SUL6", "url": "https://www.uniprot.org/uniprotkb/A0A1L1SUL6" } ], "pmid": "" } ], "molecular_function": [ { "name": "nucleoside diphosphate kinase activity", "id": "GO:0004550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004550", "evidence": [ { "database": "UniProtKB", "id": "A0A1L1SUL6", "url": "https://www.uniprot.org/uniprotkb/A0A1L1SUL6" } ], "pmid": "" } ], "biological_process": [ { "name": "GTP biosynthetic process", "id": "GO:0006183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006183", "evidence": [ { "database": "UniProtKB", "id": "A0A1L1SUL6", "url": "https://www.uniprot.org/uniprotkb/A0A1L1SUL6" } ], "pmid": "" }, { "name": "UTP biosynthetic process", "id": "GO:0006228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006228", "evidence": [ { "database": "UniProtKB", "id": "A0A1L1SUL6", "url": "https://www.uniprot.org/uniprotkb/A0A1L1SUL6" } ], "pmid": "" }, { "name": "CTP biosynthetic process", "id": "GO:0006241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006241", "evidence": [ { "database": "UniProtKB", "id": "A0A1L1SUL6", "url": "https://www.uniprot.org/uniprotkb/A0A1L1SUL6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1L1SUL6-1" }, { "uniprot_canonical_ac": "A0A1W2P872-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P872", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P872" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 492, "chemical_mass": 49067.0, "gene_names": "Nova2;Gm1424;Nova2", "protein_name": "RNA-binding protein Nova-2", "disease": [], "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": "A0A1W2P872", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P872" } ], "pmid": "" }, { "name": "regulation of axon guidance", "id": "GO:1902667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902667", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P872", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P872" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P872", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P872" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P872", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P872" } ], "pmid": "" }, { "name": "central nervous system neuron development", "id": "GO:0021954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021954", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P872", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P872" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P872", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P872" } ], "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": "A0A1W2P872", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P872" } ], "pmid": "" } ], "molecular_function": [ { "name": "sequence-specific mRNA binding", "id": "GO:1990825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990825", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P872", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P872" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P872", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P872" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P872", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P872" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P872", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P872" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P872", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P872" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1W2P872-1" }, { "uniprot_canonical_ac": "B1AVU7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1AVU7", "url": "https://www.uniprot.org/uniprotkb/B1AVU7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 408, "chemical_mass": 46119.0, "gene_names": "AAdacl4fm3;AAdacl4fm3;Gm13178;Gm437", "protein_name": "", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "B1AVU7", "url": "https://www.uniprot.org/uniprotkb/B1AVU7" } ], "pmid": "" } ], "molecular_function": [ { "name": "carboxylic ester hydrolase activity", "id": "GO:0052689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052689", "evidence": [ { "database": "UniProtKB", "id": "B1AVU7", "url": "https://www.uniprot.org/uniprotkb/B1AVU7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B1AVU7-1" }, { "uniprot_canonical_ac": "D3Z7F6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3Z7F6", "url": "https://www.uniprot.org/uniprotkb/D3Z7F6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 495, "chemical_mass": 56037.0, "gene_names": "Cyp2t4", "protein_name": "", "disease": [], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "D3Z7F6", "url": "https://www.uniprot.org/uniprotkb/D3Z7F6" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "D3Z7F6", "url": "https://www.uniprot.org/uniprotkb/D3Z7F6" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "id": "GO:0016712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016712", "evidence": [ { "database": "UniProtKB", "id": "D3Z7F6", "url": "https://www.uniprot.org/uniprotkb/D3Z7F6" } ], "pmid": "" }, { "name": "arachidonate epoxygenase activity", "id": "GO:0008392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008392", "evidence": [ { "database": "UniProtKB", "id": "D3Z7F6", "url": "https://www.uniprot.org/uniprotkb/D3Z7F6" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "D3Z7F6", "url": "https://www.uniprot.org/uniprotkb/D3Z7F6" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "D3Z7F6", "url": "https://www.uniprot.org/uniprotkb/D3Z7F6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D3Z7F6", "url": "https://www.uniprot.org/uniprotkb/D3Z7F6" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "D3Z7F6", "url": "https://www.uniprot.org/uniprotkb/D3Z7F6" } ], "pmid": "" } ], "biological_process": [ { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "D3Z7F6", "url": "https://www.uniprot.org/uniprotkb/D3Z7F6" } ], "pmid": "" }, { "name": "epoxygenase P450 pathway", "id": "GO:0019373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019373", "evidence": [ { "database": "UniProtKB", "id": "D3Z7F6", "url": "https://www.uniprot.org/uniprotkb/D3Z7F6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3Z7F6-1" }, { "uniprot_canonical_ac": "F6WYC8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "F6WYC8", "url": "https://www.uniprot.org/uniprotkb/F6WYC8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 399, "chemical_mass": 44668.0, "gene_names": "Lipo1;EG329055;Gm5097;Lipo1", "protein_name": "Lipase", "disease": [], "molecular_function": [ { "name": "sterol ester esterase activity", "id": "GO:0004771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004771", "evidence": [ { "database": "UniProtKB", "id": "F6WYC8", "url": "https://www.uniprot.org/uniprotkb/F6WYC8" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "F6WYC8", "url": "https://www.uniprot.org/uniprotkb/F6WYC8" } ], "pmid": "" }, { "name": "sterol metabolic process", "id": "GO:0016125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016125", "evidence": [ { "database": "UniProtKB", "id": "F6WYC8", "url": "https://www.uniprot.org/uniprotkb/F6WYC8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F6WYC8-1" }, { "uniprot_canonical_ac": "K7N5U4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "K7N5U4", "url": "https://www.uniprot.org/uniprotkb/K7N5U4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 849, "chemical_mass": 96991.0, "gene_names": "Gm14496;Gm14496", "protein_name": "", "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": "K7N5U4", "url": "https://www.uniprot.org/uniprotkb/K7N5U4" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "K7N5U4", "url": "https://www.uniprot.org/uniprotkb/K7N5U4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "K7N5U4-1" }, { "uniprot_canonical_ac": "K7N6U5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "K7N6U5", "url": "https://www.uniprot.org/uniprotkb/K7N6U5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 853, "chemical_mass": 98403.0, "gene_names": "Vmn2r78;Vmn2r78", "protein_name": "", "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": "K7N6U5", "url": "https://www.uniprot.org/uniprotkb/K7N6U5" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "K7N6U5", "url": "https://www.uniprot.org/uniprotkb/K7N6U5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "K7N6U5-1" }, { "uniprot_canonical_ac": "A0A075B639-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B639", "url": "https://www.uniprot.org/uniprotkb/A0A075B639" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 125, "chemical_mass": 13987.0, "gene_names": "Trav6-7-dv9", "protein_name": "", "disease": [], "cellular_component": [ { "name": "T cell receptor complex", "id": "GO:0042101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042101", "evidence": [ { "database": "UniProtKB", "id": "A0A075B639", "url": "https://www.uniprot.org/uniprotkb/A0A075B639" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A075B639", "url": "https://www.uniprot.org/uniprotkb/A0A075B639" } ], "pmid": "" } ], "biological_process": [ { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A075B639", "url": "https://www.uniprot.org/uniprotkb/A0A075B639" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B639-1" }, { "uniprot_canonical_ac": "A0A0A6YX06-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YX06", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YX06" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 97, "chemical_mass": 11040.0, "gene_names": "Trbv21", "protein_name": "", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YX06", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YX06" } ], "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": "A0A0A6YX06", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YX06" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YX06", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YX06" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0A6YX06-1" }, { "uniprot_canonical_ac": "A0A0G2JDE4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JDE4", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JDE4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 22, "chemical_mass": 2178.0, "gene_names": "Traj2", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0G2JDE4-1" }, { "uniprot_canonical_ac": "A0A0G2JFY7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JFY7", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JFY7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 255, "chemical_mass": 30069.0, "gene_names": "Gm21149;Gm21149", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0G2JFY7-1" }, { "uniprot_canonical_ac": "A0A0G2JGW8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JGW8", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JGW8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 112, "chemical_mass": 12067.0, "gene_names": "Igkv12-89", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JGW8", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JGW8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JGW8", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JGW8" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JGW8", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JGW8" } ], "pmid": "" } ], "biological_process": [ { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JGW8", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JGW8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0G2JGW8-1" }, { "uniprot_canonical_ac": "A0A140T8P1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A140T8P1", "url": "https://www.uniprot.org/uniprotkb/A0A140T8P1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 115, "chemical_mass": 12848.0, "gene_names": "Igkv6-14", "protein_name": "", "disease": [], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8P1", "url": "https://www.uniprot.org/uniprotkb/A0A140T8P1" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8P1", "url": "https://www.uniprot.org/uniprotkb/A0A140T8P1" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8P1", "url": "https://www.uniprot.org/uniprotkb/A0A140T8P1" } ], "pmid": "" } ], "cellular_component": [ { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8P1", "url": "https://www.uniprot.org/uniprotkb/A0A140T8P1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A140T8P1-1" }, { "uniprot_canonical_ac": "A0A1B0GT42-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GT42", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GT42" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1604, "chemical_mass": 177145.0, "gene_names": "Gm32742;Gm32742", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A1B0GT42-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Thr111", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 111, "start_aa": "Thr", "end_pos": 111, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr111", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A0A1B0GT42-1", "start_pos": "536", "end_pos": "536", "site_lbl": "Ile536", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQI->NQT).", "chr_id": "9", "chr_pos": "51063728", "evidence": [ { "id": "rs251846534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251846534" } ] } ] }, { "uniprot_canonical_ac": "A0A1B0GT42-1", "start_pos": "863", "end_pos": "863", "site_lbl": "Asp863", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DAT->NAT).", "chr_id": "9", "chr_pos": "51060715", "evidence": [ { "id": "rs47448909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47448909" } ] } ] } ], "record_id": "A0A1B0GT42-1" }, { "uniprot_canonical_ac": "A2BE32-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2BE32", "url": "https://www.uniprot.org/uniprotkb/A2BE32" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 847, "chemical_mass": 96753.0, "gene_names": "Vmn2r121;EG625699;Vmn2r121", "protein_name": "", "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": "A2BE32", "url": "https://www.uniprot.org/uniprotkb/A2BE32" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A2BE32", "url": "https://www.uniprot.org/uniprotkb/A2BE32" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A2BE32-1" }, { "uniprot_canonical_ac": "E9Q7N9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 4488, "chemical_mass": 516318.0, "gene_names": "Dnah11;Dnah11;Dnahc11;avc4;b2b1203Clo;b2b1279Clo;b2b1289Clo;b2b1727Clo;b2b598Clo;iv;lrd", "protein_name": "Dynein axonemal heavy chain 11", "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:0050651", "name": "atrioventricular septal defect", "description": "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.", "url": "https://disease-ontology.org/term/DOID:0050651", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ], "weight": 0.0 }, { "disease_id": "DOID:0110605", "name": "primary ciliary dyskinesia 7", "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21.", "url": "https://disease-ontology.org/term/DOID:0110605", "evidence": [ { "id": "0110605", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110605" } ], "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 } ], "biological_process": [ { "name": "cilium movement involved in cell motility", "id": "GO:0060294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060294", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "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": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "cilium movement", "id": "GO:0003341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003341", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "regulation of cilium beat frequency", "id": "GO:0003356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003356", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "determination of left/right asymmetry in nervous system", "id": "GO:0035545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035545", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "cardiac septum morphogenesis", "id": "GO:0060411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060411", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "epithelial cilium movement involved in determination of left/right asymmetry", "id": "GO:0060287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060287", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "protein localization to motile cilium", "id": "GO:0120229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120229", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "microtubule-based movement", "id": "GO:0007018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007018", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "minus-end-directed microtubule motor activity", "id": "GO:0008569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008569", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "dynein light intermediate chain binding", "id": "GO:0051959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051959", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "dynein intermediate chain binding", "id": "GO:0045505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045505", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "dynein complex", "id": "GO:0030286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030286", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "9+2 motile cilium", "id": "GO:0097729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097729", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "9+0 motile cilium", "id": "GO:0097728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097728", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "proximal portion of axoneme", "id": "GO:0120134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120134", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" }, { "name": "plasma membrane bounded cell projection", "id": "GO:0120025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120025", "evidence": [ { "database": "UniProtKB", "id": "E9Q7N9", "url": "https://www.uniprot.org/uniprotkb/E9Q7N9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q7N9-1", "start_pos": "1799", "end_pos": "1799", "site_lbl": "Ser1799", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1799, "start_aa": "Ser", "end_pos": 1799, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1799", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "E9Q7N9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q7N9" }, { "id": "E9Q7N9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/E9Q7N9" } ] } ] }, { "uniprot_canonical_ac": "E9Q7N9-1", "start_pos": "4015", "end_pos": "4015", "site_lbl": "Lys4015", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KIT->NIT).", "chr_id": "12", "chr_pos": "117874819", "evidence": [ { "id": "rs3389251033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389251033" } ] } ] } ], "record_id": "E9Q7N9-1" }, { "uniprot_canonical_ac": "K7N724-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "K7N724", "url": "https://www.uniprot.org/uniprotkb/K7N724" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 263, "chemical_mass": 30914.0, "gene_names": "Gm3453", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "K7N724-1" }, { "uniprot_canonical_ac": "A0A075B654-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B654", "url": "https://www.uniprot.org/uniprotkb/A0A075B654" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 114, "chemical_mass": 12782.0, "gene_names": "Trav3-4", "protein_name": "", "disease": [], "cellular_component": [ { "name": "T cell receptor complex", "id": "GO:0042101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042101", "evidence": [ { "database": "UniProtKB", "id": "A0A075B654", "url": "https://www.uniprot.org/uniprotkb/A0A075B654" } ], "pmid": "" } ], "biological_process": [ { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "A0A075B654", "url": "https://www.uniprot.org/uniprotkb/A0A075B654" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A075B654", "url": "https://www.uniprot.org/uniprotkb/A0A075B654" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B654-1" }, { "uniprot_canonical_ac": "A0A087WSS9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A087WSS9", "url": "https://www.uniprot.org/uniprotkb/A0A087WSS9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 222, "chemical_mass": 25730.0, "gene_names": "Gm21996", "protein_name": "", "disease": [ { "disease_id": "DOID:0070176", "name": "spermatogenic failure 4", "description": "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23.", "url": "https://disease-ontology.org/term/DOID:0070176", "evidence": [ { "id": "0070176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070176" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A087WSS9", "url": "https://www.uniprot.org/uniprotkb/A0A087WSS9" } ], "pmid": "" }, { "name": "synaptonemal complex", "id": "GO:0000795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000795", "evidence": [ { "database": "UniProtKB", "id": "A0A087WSS9", "url": "https://www.uniprot.org/uniprotkb/A0A087WSS9" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "A0A087WSS9", "url": "https://www.uniprot.org/uniprotkb/A0A087WSS9" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "A0A087WSS9", "url": "https://www.uniprot.org/uniprotkb/A0A087WSS9" } ], "pmid": "" }, { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "A0A087WSS9", "url": "https://www.uniprot.org/uniprotkb/A0A087WSS9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A087WSS9-1" }, { "uniprot_canonical_ac": "J3QNT8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "J3QNT8", "url": "https://www.uniprot.org/uniprotkb/J3QNT8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 126, "chemical_mass": 14435.0, "gene_names": "Odaph;Gm1045-a;Gm1045-b;Gm1045;Odaph", "protein_name": "", "disease": [ { "disease_id": "DOID:0110062", "name": "amelogenesis imperfecta hypomaturation type 2A4", "description": "An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21.", "url": "https://disease-ontology.org/term/DOID:0110062", "evidence": [ { "id": "0110062", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110062" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of biomineral tissue development", "id": "GO:0070169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070169", "evidence": [ { "database": "UniProtKB", "id": "J3QNT8", "url": "https://www.uniprot.org/uniprotkb/J3QNT8" } ], "pmid": "" }, { "name": "positive regulation of enamel mineralization", "id": "GO:0070175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070175", "evidence": [ { "database": "UniProtKB", "id": "J3QNT8", "url": "https://www.uniprot.org/uniprotkb/J3QNT8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "J3QNT8-1" }, { "uniprot_canonical_ac": "A0A075B5U9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B5U9", "url": "https://www.uniprot.org/uniprotkb/A0A075B5U9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 98, "chemical_mass": 10970.0, "gene_names": "Ighv1-24", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5U9", "url": "https://www.uniprot.org/uniprotkb/A0A075B5U9" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5U9", "url": "https://www.uniprot.org/uniprotkb/A0A075B5U9" } ], "pmid": "" } ], "molecular_function": [ { "name": "antigen binding", "id": "GO:0003823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003823", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5U9", "url": "https://www.uniprot.org/uniprotkb/A0A075B5U9" } ], "pmid": "" } ], "biological_process": [ { "name": "immunoglobulin mediated immune response", "id": "GO:0016064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016064", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5U9", "url": "https://www.uniprot.org/uniprotkb/A0A075B5U9" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5U9", "url": "https://www.uniprot.org/uniprotkb/A0A075B5U9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B5U9-1" }, { "uniprot_canonical_ac": "D3YYZ0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3YYZ0", "url": "https://www.uniprot.org/uniprotkb/D3YYZ0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 503, "chemical_mass": 58367.0, "gene_names": "Cyp3a57;Cyp3a57;EG622127", "protein_name": "Cytochrome P450 3A", "disease": [], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "D3YYZ0", "url": "https://www.uniprot.org/uniprotkb/D3YYZ0" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "D3YYZ0", "url": "https://www.uniprot.org/uniprotkb/D3YYZ0" } ], "pmid": "" }, { "name": "testosterone 6-beta-hydroxylase activity", "id": "GO:0050649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050649", "evidence": [ { "database": "UniProtKB", "id": "D3YYZ0", "url": "https://www.uniprot.org/uniprotkb/D3YYZ0" } ], "pmid": "" }, { "name": "testosterone 16-alpha-hydroxylase activity", "id": "GO:0008390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008390", "evidence": [ { "database": "UniProtKB", "id": "D3YYZ0", "url": "https://www.uniprot.org/uniprotkb/D3YYZ0" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "id": "GO:0016712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016712", "evidence": [ { "database": "UniProtKB", "id": "D3YYZ0", "url": "https://www.uniprot.org/uniprotkb/D3YYZ0" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "D3YYZ0", "url": "https://www.uniprot.org/uniprotkb/D3YYZ0" } ], "pmid": "" } ], "biological_process": [ { "name": "oxidative demethylation", "id": "GO:0070989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070989", "evidence": [ { "database": "UniProtKB", "id": "D3YYZ0", "url": "https://www.uniprot.org/uniprotkb/D3YYZ0" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "D3YYZ0", "url": "https://www.uniprot.org/uniprotkb/D3YYZ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3YYZ0-1" }, { "uniprot_canonical_ac": "D3YYH9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3YYH9", "url": "https://www.uniprot.org/uniprotkb/D3YYH9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 372, "chemical_mass": 41733.0, "gene_names": "Acte1;Acte1;Gm498", "protein_name": "", "disease": [ { "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: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: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 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "D3YYH9", "url": "https://www.uniprot.org/uniprotkb/D3YYH9" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "D3YYH9", "url": "https://www.uniprot.org/uniprotkb/D3YYH9" } ], "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": "D3YYH9", "url": "https://www.uniprot.org/uniprotkb/D3YYH9" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "D3YYH9", "url": "https://www.uniprot.org/uniprotkb/D3YYH9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D3YYH9", "url": "https://www.uniprot.org/uniprotkb/D3YYH9" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "D3YYH9", "url": "https://www.uniprot.org/uniprotkb/D3YYH9" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "D3YYH9", "url": "https://www.uniprot.org/uniprotkb/D3YYH9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "D3YYH9", "url": "https://www.uniprot.org/uniprotkb/D3YYH9" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "D3YYH9", "url": "https://www.uniprot.org/uniprotkb/D3YYH9" } ], "pmid": "" }, { "name": "NuA4 histone acetyltransferase complex", "id": "GO:0035267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035267", "evidence": [ { "database": "UniProtKB", "id": "D3YYH9", "url": "https://www.uniprot.org/uniprotkb/D3YYH9" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "D3YYH9", "url": "https://www.uniprot.org/uniprotkb/D3YYH9" } ], "pmid": "" } ], "biological_process": [ { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "D3YYH9", "url": "https://www.uniprot.org/uniprotkb/D3YYH9" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "D3YYH9", "url": "https://www.uniprot.org/uniprotkb/D3YYH9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3YYH9-1" }, { "uniprot_canonical_ac": "B8JJ69-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B8JJ69", "url": "https://www.uniprot.org/uniprotkb/B8JJ69" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 315, "chemical_mass": 35756.0, "gene_names": "2310061I04Rik;2310061I04Rik", "protein_name": "", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "B8JJ69", "url": "https://www.uniprot.org/uniprotkb/B8JJ69" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B8JJ69-1", "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" } ] } ] } ], "record_id": "B8JJ69-1" }, { "uniprot_canonical_ac": "A0A0G2JEI7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEI7", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JEI7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 115, "chemical_mass": 12543.0, "gene_names": "Igkv12-38", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEI7", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JEI7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEI7", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JEI7" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEI7", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JEI7" } ], "pmid": "" } ], "biological_process": [ { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JEI7", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JEI7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0G2JEI7-1" }, { "uniprot_canonical_ac": "E9Q3M5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1116, "chemical_mass": 124186.0, "gene_names": "Slc4a5", "protein_name": "Electrogenic sodium bicarbonate cotransporter 4", "disease": [ { "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": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "pmid": "" } ], "biological_process": [ { "name": "monoatomic ion transport", "id": "GO:0006811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "evidence": [ { "database": "UniProtKB", "id": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "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": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "pmid": "" }, { "name": "regulation of systemic arterial blood pressure", "id": "GO:0003073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003073", "evidence": [ { "database": "UniProtKB", "id": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "pmid": "" }, { "name": "renal system process", "id": "GO:0003014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003014", "evidence": [ { "database": "UniProtKB", "id": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "pmid": "" }, { "name": "bicarbonate transport", "id": "GO:0015701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015701", "evidence": [ { "database": "UniProtKB", "id": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "pmid": "" }, { "name": "cerebrospinal fluid secretion", "id": "GO:0033326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033326", "evidence": [ { "database": "UniProtKB", "id": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "pmid": "" }, { "name": "mitochondrion distribution", "id": "GO:0048311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048311", "evidence": [ { "database": "UniProtKB", "id": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "pmid": "" }, { "name": "regulation of intracellular pH", "id": "GO:0051453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051453", "evidence": [ { "database": "UniProtKB", "id": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "pmid": "" }, { "name": "epithelial cell development", "id": "GO:0002064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002064", "evidence": [ { "database": "UniProtKB", "id": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "pmid": "" } ], "molecular_function": [ { "name": "monoatomic anion transmembrane transporter activity", "id": "GO:0008509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008509", "evidence": [ { "database": "UniProtKB", "id": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "pmid": "" }, { "name": "solute:inorganic anion antiporter activity", "id": "GO:0005452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005452", "evidence": [ { "database": "UniProtKB", "id": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "pmid": "" }, { "name": "sodium:bicarbonate symporter activity", "id": "GO:0008510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008510", "evidence": [ { "database": "UniProtKB", "id": "E9Q3M5", "url": "https://www.uniprot.org/uniprotkb/E9Q3M5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q3M5-1" }, { "uniprot_canonical_ac": "E9Q0R1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q0R1", "url": "https://www.uniprot.org/uniprotkb/E9Q0R1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 267, "chemical_mass": 31401.0, "gene_names": "Gm3029;Gm8159;Gm8159", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q0R1-1" }, { "uniprot_canonical_ac": "E9PZM7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PZM7", "url": "https://www.uniprot.org/uniprotkb/E9PZM7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1456, "chemical_mass": 162100.0, "gene_names": "Scaf11;1110061H03Rik;2610510E10Rik;CASP11;SIP1;SRRP129;Scaf11;Sfrs2ip;Srsf2ip;mKIAA3013", "protein_name": "", "disease": [], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E9PZM7", "url": "https://www.uniprot.org/uniprotkb/E9PZM7" } ], "pmid": "" } ], "biological_process": [ { "name": "RNA splicing, via transesterification reactions", "id": "GO:0000375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000375", "evidence": [ { "database": "UniProtKB", "id": "E9PZM7", "url": "https://www.uniprot.org/uniprotkb/E9PZM7" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "E9PZM7", "url": "https://www.uniprot.org/uniprotkb/E9PZM7" } ], "pmid": "" }, { "name": "spliceosomal complex assembly", "id": "GO:0000245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000245", "evidence": [ { "database": "UniProtKB", "id": "E9PZM7", "url": "https://www.uniprot.org/uniprotkb/E9PZM7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "E9PZM7", "url": "https://www.uniprot.org/uniprotkb/E9PZM7" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "E9PZM7", "url": "https://www.uniprot.org/uniprotkb/E9PZM7" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "E9PZM7", "url": "https://www.uniprot.org/uniprotkb/E9PZM7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PZM7-1" }, { "uniprot_canonical_ac": "E9Q295-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q295", "url": "https://www.uniprot.org/uniprotkb/E9Q295" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1059, "chemical_mass": 120951.0, "gene_names": "Gm973;Gm973", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q295-1" }, { "uniprot_canonical_ac": "E9Q6D7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q6D7", "url": "https://www.uniprot.org/uniprotkb/E9Q6D7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 167, "chemical_mass": 19757.0, "gene_names": "1700024B05Rik", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q6D7-1" }, { "uniprot_canonical_ac": "L7N2A0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "L7N2A0", "url": "https://www.uniprot.org/uniprotkb/L7N2A0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 855, "chemical_mass": 97189.0, "gene_names": "Vmn2r15;EG211223;Vmn2r15", "protein_name": "", "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": "L7N2A0", "url": "https://www.uniprot.org/uniprotkb/L7N2A0" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "L7N2A0", "url": "https://www.uniprot.org/uniprotkb/L7N2A0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "L7N2A0", "url": "https://www.uniprot.org/uniprotkb/L7N2A0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "L7N2A0-1" }, { "uniprot_canonical_ac": "E9Q8V6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q8V6", "url": "https://www.uniprot.org/uniprotkb/E9Q8V6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1869, "chemical_mass": 209302.0, "gene_names": "Dennd4a;Dennd4a;F730015K02Rik", "protein_name": "", "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": "E9Q8V6", "url": "https://www.uniprot.org/uniprotkb/E9Q8V6" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of Rab protein signal transduction", "id": "GO:0032483", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032483", "evidence": [ { "database": "UniProtKB", "id": "E9Q8V6", "url": "https://www.uniprot.org/uniprotkb/E9Q8V6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "E9Q8V6", "url": "https://www.uniprot.org/uniprotkb/E9Q8V6" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "E9Q8V6", "url": "https://www.uniprot.org/uniprotkb/E9Q8V6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q8V6-1", "start_pos": "679", "end_pos": "679", "site_lbl": "Thr679", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 679, "start_aa": "Thr", "end_pos": 679, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr679", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q8V6-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Tyr88", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YLC->NLC).", "chr_id": "9", "chr_pos": "64746377", "evidence": [ { "id": "rs3389046904", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389046904" } ] } ] } ], "record_id": "E9Q8V6-1" }, { "uniprot_canonical_ac": "A0A1D5RM53-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1D5RM53", "url": "https://www.uniprot.org/uniprotkb/A0A1D5RM53" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 117, "chemical_mass": 12732.0, "gene_names": "Cdiptos;Cdiptos;D830044I16Rik", "protein_name": "", "disease": [], "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": "A0A1D5RM53", "url": "https://www.uniprot.org/uniprotkb/A0A1D5RM53" } ], "pmid": "" } ], "molecular_function": [ { "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": "A0A1D5RM53", "url": "https://www.uniprot.org/uniprotkb/A0A1D5RM53" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1D5RM53-1" }, { "uniprot_canonical_ac": "A0A087WR14-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A087WR14", "url": "https://www.uniprot.org/uniprotkb/A0A087WR14" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 222, "chemical_mass": 25548.0, "gene_names": "Gm21095", "protein_name": "", "disease": [ { "disease_id": "DOID:0070176", "name": "spermatogenic failure 4", "description": "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23.", "url": "https://disease-ontology.org/term/DOID:0070176", "evidence": [ { "id": "0070176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070176" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A087WR14", "url": "https://www.uniprot.org/uniprotkb/A0A087WR14" } ], "pmid": "" }, { "name": "synaptonemal complex", "id": "GO:0000795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000795", "evidence": [ { "database": "UniProtKB", "id": "A0A087WR14", "url": "https://www.uniprot.org/uniprotkb/A0A087WR14" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "A0A087WR14", "url": "https://www.uniprot.org/uniprotkb/A0A087WR14" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "A0A087WR14", "url": "https://www.uniprot.org/uniprotkb/A0A087WR14" } ], "pmid": "" }, { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "A0A087WR14", "url": "https://www.uniprot.org/uniprotkb/A0A087WR14" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A087WR14-1" }, { "uniprot_canonical_ac": "A0A087WPJ9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A087WPJ9", "url": "https://www.uniprot.org/uniprotkb/A0A087WPJ9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 222, "chemical_mass": 25685.0, "gene_names": "Gm21117", "protein_name": "", "disease": [ { "disease_id": "DOID:0070176", "name": "spermatogenic failure 4", "description": "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23.", "url": "https://disease-ontology.org/term/DOID:0070176", "evidence": [ { "id": "0070176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070176" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPJ9", "url": "https://www.uniprot.org/uniprotkb/A0A087WPJ9" } ], "pmid": "" }, { "name": "synaptonemal complex", "id": "GO:0000795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000795", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPJ9", "url": "https://www.uniprot.org/uniprotkb/A0A087WPJ9" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPJ9", "url": "https://www.uniprot.org/uniprotkb/A0A087WPJ9" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPJ9", "url": "https://www.uniprot.org/uniprotkb/A0A087WPJ9" } ], "pmid": "" }, { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "A0A087WPJ9", "url": "https://www.uniprot.org/uniprotkb/A0A087WPJ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A087WPJ9-1" }, { "uniprot_canonical_ac": "A2AS37-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 356, "chemical_mass": 40432.0, "gene_names": "AI182371;AI182371", "protein_name": "", "disease": [ { "disease_id": "DOID:0060284", "name": "paroxysmal nocturnal hemoglobinuria", "description": "An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.", "url": "https://disease-ontology.org/term/DOID:0060284", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ], "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:12134", "name": "factor VIII deficiency", "description": "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.", "url": "https://disease-ontology.org/term/DOID:12134", "evidence": [ { "id": "12134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12134" } ], "weight": 0.0 }, { "disease_id": "DOID:1227", "name": "neutropenia", "description": "", "url": "https://disease-ontology.org/term/DOID:1227", "evidence": [ { "id": "1227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1227" } ], "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: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: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:8158", "name": "complement component 5 deficiency", "description": "A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system.", "url": "https://disease-ontology.org/term/DOID:8158", "evidence": [ { "id": "8158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8158" } ], "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": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "pmid": "" }, { "name": "membrane attack complex", "id": "GO:0005579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005579", "evidence": [ { "database": "UniProtKB", "id": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "pmid": "" }, { "name": "other organism cell membrane", "id": "GO:0044218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044218", "evidence": [ { "database": "UniProtKB", "id": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "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": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "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": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "pmid": "" }, { "name": "complement activation, lectin pathway", "id": "GO:0001867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001867", "evidence": [ { "database": "UniProtKB", "id": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "pmid": "" }, { "name": "complement activation, classical pathway", "id": "GO:0006958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "database": "UniProtKB", "id": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "pmid": "" }, { "name": "complement activation", "id": "GO:0006956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006956", "evidence": [ { "database": "UniProtKB", "id": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "pmid": "" }, { "name": "complement activation, alternative pathway", "id": "GO:0006957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006957", "evidence": [ { "database": "UniProtKB", "id": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "pmid": "" }, { "name": "negative regulation of macrophage chemotaxis", "id": "GO:0010760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010760", "evidence": [ { "database": "UniProtKB", "id": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "pmid": "" }, { "name": "leukocyte chemotaxis", "id": "GO:0030595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030595", "evidence": [ { "database": "UniProtKB", "id": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "pmid": "" }, { "name": "complement activation, GZMK pathway", "id": "GO:0160257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160257", "evidence": [ { "database": "UniProtKB", "id": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "pmid": "" } ], "molecular_function": [ { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "A2AS37", "url": "https://www.uniprot.org/uniprotkb/A2AS37" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A2AS37-1" }, { "uniprot_canonical_ac": "E9Q422-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q422", "url": "https://www.uniprot.org/uniprotkb/E9Q422" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 215, "chemical_mass": 24794.0, "gene_names": "Sp140l1;A530032D15Rik", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9Q422", "url": "https://www.uniprot.org/uniprotkb/E9Q422" } ], "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": "E9Q422", "url": "https://www.uniprot.org/uniprotkb/E9Q422" } ], "pmid": "" } ], "molecular_function": [ { "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": "E9Q422", "url": "https://www.uniprot.org/uniprotkb/E9Q422" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q422-1" }, { "uniprot_canonical_ac": "E9PYY6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PYY6", "url": "https://www.uniprot.org/uniprotkb/E9PYY6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 479, "chemical_mass": 51505.0, "gene_names": "Mfsd4b5;BC021785;Mfsd4b5;Naglt1c", "protein_name": "", "disease": [], "molecular_function": [ { "name": "D-glucose:sodium symporter activity", "id": "GO:0005412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005412", "evidence": [ { "database": "UniProtKB", "id": "E9PYY6", "url": "https://www.uniprot.org/uniprotkb/E9PYY6" } ], "pmid": "" } ], "cellular_component": [ { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "E9PYY6", "url": "https://www.uniprot.org/uniprotkb/E9PYY6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "E9PYY6", "url": "https://www.uniprot.org/uniprotkb/E9PYY6" } ], "pmid": "" } ], "biological_process": [ { "name": "D-glucose import across plasma membrane", "id": "GO:0098708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098708", "evidence": [ { "database": "UniProtKB", "id": "E9PYY6", "url": "https://www.uniprot.org/uniprotkb/E9PYY6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9PYY6-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Thr409", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 409, "start_aa": "Thr", "end_pos": 409, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr409", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9PYY6-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Thr9", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 9, "start_aa": "Thr", "end_pos": 9, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr9", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "E9PYY6-1" }, { "uniprot_canonical_ac": "A0A0A6YX08-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YX08", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YX08" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 17, "chemical_mass": 1838.0, "gene_names": "Trbj2-2", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0A6YX08-1" }, { "uniprot_canonical_ac": "A0A0A6YX16-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YX16", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YX16" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 17, "chemical_mass": 1827.0, "gene_names": "Trbj1-5", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0A6YX16-1" }, { "uniprot_canonical_ac": "A0A0B4J1I0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1I0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1I0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 119, "chemical_mass": 13079.0, "gene_names": "Igkv1-110", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1I0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1I0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1I0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1I0" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1I0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1I0" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1I0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1I0" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1I0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1I0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4J1I0-1" }, { "uniprot_canonical_ac": "A0A1B0GRB6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GRB6", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GRB6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 84, "chemical_mass": 9722.0, "gene_names": "Brd3os;A230069D13;Brd3os;D2Bwg1423e;Gm20071", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1B0GRB6-1" }, { "uniprot_canonical_ac": "A0A1B0GT39-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GT39", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GT39" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 78, "chemical_mass": 8175.0, "gene_names": "Gm40193;Gm40193;Gm45573", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1B0GT39-1" }, { "uniprot_canonical_ac": "A0A1D5RM44-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1D5RM44", "url": "https://www.uniprot.org/uniprotkb/A0A1D5RM44" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 45, "chemical_mass": 5394.0, "gene_names": "Gm55746", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1D5RM44-1" }, { "uniprot_canonical_ac": "B1AQA0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1AQA0", "url": "https://www.uniprot.org/uniprotkb/B1AQA0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 25, "chemical_mass": 2528.0, "gene_names": "Gm14180", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B1AQA0-1" }, { "uniprot_canonical_ac": "B1AVP0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1AVP0", "url": "https://www.uniprot.org/uniprotkb/B1AVP0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 632, "chemical_mass": 69249.0, "gene_names": "Phactr2", "protein_name": "Phosphatase and actin regulator", "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: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: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 } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "B1AVP0", "url": "https://www.uniprot.org/uniprotkb/B1AVP0" } ], "pmid": "" }, { "name": "protein phosphatase inhibitor activity", "id": "GO:0004864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004864", "evidence": [ { "database": "UniProtKB", "id": "B1AVP0", "url": "https://www.uniprot.org/uniprotkb/B1AVP0" } ], "pmid": "" } ], "biological_process": [ { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "B1AVP0", "url": "https://www.uniprot.org/uniprotkb/B1AVP0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B1AVP0-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Thr206", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 206, "start_aa": "Thr", "end_pos": 206, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr206", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "B1AVP0-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Ser282", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (STT->NTT).", "chr_id": "10", "chr_pos": "13129440", "evidence": [ { "id": "rs259801347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259801347" } ] } ] } ], "record_id": "B1AVP0-1" }, { "uniprot_canonical_ac": "E9Q6U5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q6U5", "url": "https://www.uniprot.org/uniprotkb/E9Q6U5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 113, "chemical_mass": 13085.0, "gene_names": "Cimip3;1700001C19Rik;Cimip3", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q6U5-1" }, { "uniprot_canonical_ac": "E9Q759-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q759", "url": "https://www.uniprot.org/uniprotkb/E9Q759" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 848, "chemical_mass": 96184.0, "gene_names": "Vmn2r14;EG231591;Vmn2r14", "protein_name": "", "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": "E9Q759", "url": "https://www.uniprot.org/uniprotkb/E9Q759" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9Q759", "url": "https://www.uniprot.org/uniprotkb/E9Q759" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q759-1" }, { "uniprot_canonical_ac": "E9Q7U0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q7U0", "url": "https://www.uniprot.org/uniprotkb/E9Q7U0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 239, "chemical_mass": 26487.0, "gene_names": "Kcnmb3;EG435726;Gm5707;Kcnmb3", "protein_name": "Calcium-activated potassium channel subunit beta", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9Q7U0", "url": "https://www.uniprot.org/uniprotkb/E9Q7U0" } ], "pmid": "" }, { "name": "voltage-gated potassium channel complex", "id": "GO:0008076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008076", "evidence": [ { "database": "UniProtKB", "id": "E9Q7U0", "url": "https://www.uniprot.org/uniprotkb/E9Q7U0" } ], "pmid": "" } ], "biological_process": [ { "name": "neuronal action potential", "id": "GO:0019228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019228", "evidence": [ { "database": "UniProtKB", "id": "E9Q7U0", "url": "https://www.uniprot.org/uniprotkb/E9Q7U0" } ], "pmid": "" }, { "name": "action potential", "id": "GO:0001508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001508", "evidence": [ { "database": "UniProtKB", "id": "E9Q7U0", "url": "https://www.uniprot.org/uniprotkb/E9Q7U0" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "E9Q7U0", "url": "https://www.uniprot.org/uniprotkb/E9Q7U0" } ], "pmid": "" }, { "name": "detection of calcium ion", "id": "GO:0005513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005513", "evidence": [ { "database": "UniProtKB", "id": "E9Q7U0", "url": "https://www.uniprot.org/uniprotkb/E9Q7U0" } ], "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": "E9Q7U0", "url": "https://www.uniprot.org/uniprotkb/E9Q7U0" } ], "pmid": "" }, { "name": "calcium-activated potassium channel activity", "id": "GO:0015269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015269", "evidence": [ { "database": "UniProtKB", "id": "E9Q7U0", "url": "https://www.uniprot.org/uniprotkb/E9Q7U0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q7U0-1" }, { "uniprot_canonical_ac": "F6V5V4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "F6V5V4", "url": "https://www.uniprot.org/uniprotkb/F6V5V4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 377, "chemical_mass": 43003.0, "gene_names": "Serpinb9h;Gm11397;Serpinb9f;Serpinb9h", "protein_name": "", "disease": [], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "F6V5V4", "url": "https://www.uniprot.org/uniprotkb/F6V5V4" } ], "pmid": "" }, { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "F6V5V4", "url": "https://www.uniprot.org/uniprotkb/F6V5V4" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase inhibitor activity involved in apoptotic process", "id": "GO:0043027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043027", "evidence": [ { "database": "UniProtKB", "id": "F6V5V4", "url": "https://www.uniprot.org/uniprotkb/F6V5V4" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "F6V5V4", "url": "https://www.uniprot.org/uniprotkb/F6V5V4" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "F6V5V4", "url": "https://www.uniprot.org/uniprotkb/F6V5V4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "F6V5V4", "url": "https://www.uniprot.org/uniprotkb/F6V5V4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "F6V5V4", "url": "https://www.uniprot.org/uniprotkb/F6V5V4" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "F6V5V4", "url": "https://www.uniprot.org/uniprotkb/F6V5V4" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "F6V5V4", "url": "https://www.uniprot.org/uniprotkb/F6V5V4" } ], "pmid": "" }, { "name": "protection from natural killer cell mediated cytotoxicity", "id": "GO:0042270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042270", "evidence": [ { "database": "UniProtKB", "id": "F6V5V4", "url": "https://www.uniprot.org/uniprotkb/F6V5V4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F6V5V4-1" }, { "uniprot_canonical_ac": "G3UXD1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "G3UXD1", "url": "https://www.uniprot.org/uniprotkb/G3UXD1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 256, "chemical_mass": 30204.0, "gene_names": "Speer4c1;4933431D05Rik;SPEER-4C;Speer4c1;Speer4c", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3UXD1-1" }, { "uniprot_canonical_ac": "G3UYD9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "G3UYD9", "url": "https://www.uniprot.org/uniprotkb/G3UYD9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 124, "chemical_mass": 13692.0, "gene_names": "Gm19345;Gm19345", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3UYD9-1" }, { "uniprot_canonical_ac": "K7N660-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "K7N660", "url": "https://www.uniprot.org/uniprotkb/K7N660" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 267, "chemical_mass": 31484.0, "gene_names": "Gm10220;Gm10220", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "K7N660-1" }, { "uniprot_canonical_ac": "K7N705-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "K7N705", "url": "https://www.uniprot.org/uniprotkb/K7N705" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 861, "chemical_mass": 98659.0, "gene_names": "Vmn2r33;Vmn2r33", "protein_name": "", "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": "K7N705", "url": "https://www.uniprot.org/uniprotkb/K7N705" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "K7N705", "url": "https://www.uniprot.org/uniprotkb/K7N705" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "K7N705-1" }, { "uniprot_canonical_ac": "L7N2B3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "L7N2B3", "url": "https://www.uniprot.org/uniprotkb/L7N2B3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 851, "chemical_mass": 97660.0, "gene_names": "Vmn2r68;EG620697;Vmn2r68-ps;Vmn2r68", "protein_name": "", "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": "L7N2B3", "url": "https://www.uniprot.org/uniprotkb/L7N2B3" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "L7N2B3", "url": "https://www.uniprot.org/uniprotkb/L7N2B3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "L7N2B3-1" }, { "uniprot_canonical_ac": "A0A075B5N8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B5N8", "url": "https://www.uniprot.org/uniprotkb/A0A075B5N8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 118, "chemical_mass": 12943.0, "gene_names": "Igkv3-10", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5N8", "url": "https://www.uniprot.org/uniprotkb/A0A075B5N8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5N8", "url": "https://www.uniprot.org/uniprotkb/A0A075B5N8" } ], "pmid": "" }, { "name": "monomeric IgA immunoglobulin complex", "id": "GO:0071748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071748", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5N8", "url": "https://www.uniprot.org/uniprotkb/A0A075B5N8" } ], "pmid": "" }, { "name": "secretory IgA immunoglobulin complex", "id": "GO:0071751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071751", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5N8", "url": "https://www.uniprot.org/uniprotkb/A0A075B5N8" } ], "pmid": "" }, { "name": "pentameric IgM immunoglobulin complex", "id": "GO:0071756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071756", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5N8", "url": "https://www.uniprot.org/uniprotkb/A0A075B5N8" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5N8", "url": "https://www.uniprot.org/uniprotkb/A0A075B5N8" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5N8", "url": "https://www.uniprot.org/uniprotkb/A0A075B5N8" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5N8", "url": "https://www.uniprot.org/uniprotkb/A0A075B5N8" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5N8", "url": "https://www.uniprot.org/uniprotkb/A0A075B5N8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B5N8-1" }, { "uniprot_canonical_ac": "A0A075B5Z0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B5Z0", "url": "https://www.uniprot.org/uniprotkb/A0A075B5Z0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 172, "chemical_mass": 19716.0, "gene_names": "Trgc1;Tcrg-C1", "protein_name": "", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5Z0", "url": "https://www.uniprot.org/uniprotkb/A0A075B5Z0" } ], "pmid": "" } ], "biological_process": [ { "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": "A0A075B5Z0", "url": "https://www.uniprot.org/uniprotkb/A0A075B5Z0" } ], "pmid": "" } ], "molecular_function": [ { "name": "small molecule binding", "id": "GO:0036094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036094", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5Z0", "url": "https://www.uniprot.org/uniprotkb/A0A075B5Z0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B5Z0-1" }, { "uniprot_canonical_ac": "A0A075B647-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B647", "url": "https://www.uniprot.org/uniprotkb/A0A075B647" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 113, "chemical_mass": 12699.0, "gene_names": "Trav9-2", "protein_name": "", "disease": [], "cellular_component": [ { "name": "T cell receptor complex", "id": "GO:0042101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042101", "evidence": [ { "database": "UniProtKB", "id": "A0A075B647", "url": "https://www.uniprot.org/uniprotkb/A0A075B647" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A075B647", "url": "https://www.uniprot.org/uniprotkb/A0A075B647" } ], "pmid": "" } ], "biological_process": [ { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A075B647", "url": "https://www.uniprot.org/uniprotkb/A0A075B647" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B647-1" }, { "uniprot_canonical_ac": "A0A075B696-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B696", "url": "https://www.uniprot.org/uniprotkb/A0A075B696" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 115, "chemical_mass": 12304.0, "gene_names": "Ighv2-3", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A075B696", "url": "https://www.uniprot.org/uniprotkb/A0A075B696" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A075B696", "url": "https://www.uniprot.org/uniprotkb/A0A075B696" } ], "pmid": "" } ], "molecular_function": [ { "name": "antigen binding", "id": "GO:0003823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003823", "evidence": [ { "database": "UniProtKB", "id": "A0A075B696", "url": "https://www.uniprot.org/uniprotkb/A0A075B696" } ], "pmid": "" } ], "biological_process": [ { "name": "immunoglobulin mediated immune response", "id": "GO:0016064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016064", "evidence": [ { "database": "UniProtKB", "id": "A0A075B696", "url": "https://www.uniprot.org/uniprotkb/A0A075B696" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B696-1" }, { "uniprot_canonical_ac": "A0A0B4J1G8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G8", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 114, "chemical_mass": 12866.0, "gene_names": "Trbv2", "protein_name": "", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G8", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G8" } ], "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": "A0A0B4J1G8", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G8" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G8", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4J1G8-1" }, { "uniprot_canonical_ac": "A0A0B4J1H2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1H2", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1H2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 113, "chemical_mass": 12596.0, "gene_names": "Trbv13-3", "protein_name": "", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1H2", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1H2" } ], "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": "A0A0B4J1H2", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1H2" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1H2", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1H2" } ], "pmid": "" }, { "name": "response to protozoan", "id": "GO:0001562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001562", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1H2", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1H2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4J1H2-1" }, { "uniprot_canonical_ac": "A0A0G2JER2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JER2", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JER2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 19, "chemical_mass": 2065.0, "gene_names": "Traj13", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0G2JER2-1" }, { "uniprot_canonical_ac": "A0A0G2JFK9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JFK9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JFK9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 19, "chemical_mass": 2041.0, "gene_names": "Traj20", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0G2JFK9-1" }, { "uniprot_canonical_ac": "A0A0G2JFV0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JFV0", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JFV0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 20, "chemical_mass": 2229.0, "gene_names": "Traj29", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0G2JFV0-1" }, { "uniprot_canonical_ac": "A0A0G2JGR3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JGR3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JGR3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 21, "chemical_mass": 2274.0, "gene_names": "Traj46", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0G2JGR3-1" }, { "uniprot_canonical_ac": "A0A0J9YUZ3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0J9YUZ3", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YUZ3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 350, "chemical_mass": 39475.0, "gene_names": "Potefam3c;Gm9495;Potefam3c", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A0J9YUZ3-1", "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": "A0A0J9YUZ3-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Thr221", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 221, "start_aa": "Thr", "end_pos": 221, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr221", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A0A0J9YUZ3-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Pro15", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIP->NIS).", "chr_id": "8", "chr_pos": "69906006", "evidence": [ { "id": "rs579249542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579249542" } ] } ] }, { "uniprot_canonical_ac": "A0A0J9YUZ3-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Thr264", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TGS->NGS).", "chr_id": "8", "chr_pos": "69899199", "evidence": [ { "id": "rs3388979884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388979884" } ] } ] } ], "record_id": "A0A0J9YUZ3-1" }, { "uniprot_canonical_ac": "A0A140LIA7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A140LIA7", "url": "https://www.uniprot.org/uniprotkb/A0A140LIA7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 188, "chemical_mass": 20635.0, "gene_names": "Gm29797", "protein_name": "Uncharacterized protein C20orf204 homolog", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A140LIA7-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Asn74", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "A0A140LIA7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A140LIA7#ptm_processing" } ] } ] } ], "record_id": "A0A140LIA7-1" }, { "uniprot_canonical_ac": "A0A140LJJ2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A140LJJ2", "url": "https://www.uniprot.org/uniprotkb/A0A140LJJ2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 248, "chemical_mass": 25770.0, "gene_names": "Prrt1b;Dspd2;Gm13420;Prrt1b", "protein_name": "", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A140LJJ2", "url": "https://www.uniprot.org/uniprotkb/A0A140LJJ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A140LJJ2-1" }, { "uniprot_canonical_ac": "A0A140T8M6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M6", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 119, "chemical_mass": 13031.0, "gene_names": "Igkv3-5", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M6", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M6", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M6" } ], "pmid": "" }, { "name": "monomeric IgA immunoglobulin complex", "id": "GO:0071748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071748", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M6", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M6" } ], "pmid": "" }, { "name": "secretory IgA immunoglobulin complex", "id": "GO:0071751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071751", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M6", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M6" } ], "pmid": "" }, { "name": "pentameric IgM immunoglobulin complex", "id": "GO:0071756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071756", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M6", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M6" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M6", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M6" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M6", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M6" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M6", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A140T8M6-1" }, { "uniprot_canonical_ac": "E9PVW1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PVW1", "url": "https://www.uniprot.org/uniprotkb/E9PVW1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 718, "chemical_mass": 81352.0, "gene_names": "Zkscan7;Zfp167;Zkscan7", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9PVW1", "url": "https://www.uniprot.org/uniprotkb/E9PVW1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "E9PVW1", "url": "https://www.uniprot.org/uniprotkb/E9PVW1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "E9PVW1", "url": "https://www.uniprot.org/uniprotkb/E9PVW1" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E9PVW1", "url": "https://www.uniprot.org/uniprotkb/E9PVW1" } ], "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": "E9PVW1", "url": "https://www.uniprot.org/uniprotkb/E9PVW1" } ], "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": "E9PVW1", "url": "https://www.uniprot.org/uniprotkb/E9PVW1" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "E9PVW1", "url": "https://www.uniprot.org/uniprotkb/E9PVW1" } ], "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": "E9PVW1", "url": "https://www.uniprot.org/uniprotkb/E9PVW1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9PVW1-1", "start_pos": "581", "end_pos": "581", "site_lbl": "Ser581", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 581, "start_aa": "Ser", "end_pos": 581, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser581", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "E9PVW1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9PVW1" }, { "id": "E9PVW1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/E9PVW1" } ] } ] }, { "uniprot_canonical_ac": "E9PVW1-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Ser360", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SQS->NQS).", "chr_id": "9", "chr_pos": "122724111", "evidence": [ { "id": "rs238219591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238219591" } ] } ] }, { "uniprot_canonical_ac": "E9PVW1-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Asp462", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "9", "chr_pos": "122724416", "evidence": [ { "id": "rs245654861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245654861" } ] } ] } ], "record_id": "E9PVW1-1" }, { "uniprot_canonical_ac": "A0A1Y7VLE6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1Y7VLE6", "url": "https://www.uniprot.org/uniprotkb/A0A1Y7VLE6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 161, "chemical_mass": 14277.0, "gene_names": "Gm47955", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1Y7VLE6-1" }, { "uniprot_canonical_ac": "Q5NCB3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5NCB3", "url": "https://www.uniprot.org/uniprotkb/Q5NCB3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 844, "chemical_mass": 95457.0, "gene_names": "Gm5431;EG432555;Gm5431;Irgb9b8", "protein_name": "", "disease": [], "molecular_function": [ { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q5NCB3", "url": "https://www.uniprot.org/uniprotkb/Q5NCB3" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q5NCB3", "url": "https://www.uniprot.org/uniprotkb/Q5NCB3" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q5NCB3", "url": "https://www.uniprot.org/uniprotkb/Q5NCB3" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q5NCB3", "url": "https://www.uniprot.org/uniprotkb/Q5NCB3" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q5NCB3", "url": "https://www.uniprot.org/uniprotkb/Q5NCB3" } ], "pmid": "" } ], "biological_process": [ { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q5NCB3", "url": "https://www.uniprot.org/uniprotkb/Q5NCB3" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q5NCB3", "url": "https://www.uniprot.org/uniprotkb/Q5NCB3" } ], "pmid": "" }, { "name": "cellular response to interferon-beta", "id": "GO:0035458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035458", "evidence": [ { "database": "UniProtKB", "id": "Q5NCB3", "url": "https://www.uniprot.org/uniprotkb/Q5NCB3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5NCB3-1" }, { "uniprot_canonical_ac": "B1AZM2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1AZM2", "url": "https://www.uniprot.org/uniprotkb/B1AZM2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 449, "chemical_mass": 52912.0, "gene_names": "Gm15091;Gm15091", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B1AZM2-1" }, { "uniprot_canonical_ac": "D3YVV6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3YVV6", "url": "https://www.uniprot.org/uniprotkb/D3YVV6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 449, "chemical_mass": 49181.0, "gene_names": "Hs3st4;Gm6915;Hs3st4", "protein_name": "Sulfotransferase", "disease": [], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "D3YVV6", "url": "https://www.uniprot.org/uniprotkb/D3YVV6" } ], "pmid": "" } ], "biological_process": [ { "name": "heparan sulfate proteoglycan biosynthetic process", "id": "GO:0015012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015012", "evidence": [ { "database": "UniProtKB", "id": "D3YVV6", "url": "https://www.uniprot.org/uniprotkb/D3YVV6" } ], "pmid": "" } ], "molecular_function": [ { "name": "[heparan sulfate]-glucosamine 3-sulfotransferase activity", "id": "GO:0008467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008467", "evidence": [ { "database": "UniProtKB", "id": "D3YVV6", "url": "https://www.uniprot.org/uniprotkb/D3YVV6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D3YVV6-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Asn101", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G15205QB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VRPGASSPPPDNASR", "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": "D3YVV6-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Pro135", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "123582806", "evidence": [ { "id": "rs236572804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236572804" } ] } ] }, { "uniprot_canonical_ac": "D3YVV6-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Pro159", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "123582879", "evidence": [ { "id": "rs261689974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261689974" } ] } ] }, { "uniprot_canonical_ac": "D3YVV6-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Asp246", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "123996072", "evidence": [ { "id": "rs3388944272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388944272" } ] } ] }, { "uniprot_canonical_ac": "D3YVV6-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Lys253", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "123996094", "evidence": [ { "id": "rs3388918276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388918276" } ] } ] }, { "uniprot_canonical_ac": "D3YVV6-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Lys29", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "123582489", "evidence": [ { "id": "rs3546158974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546158974" } ] } ] }, { "uniprot_canonical_ac": "D3YVV6-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Gly359", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "123996410", "evidence": [ { "id": "rs3388951248", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388951248" } ] } ] }, { "uniprot_canonical_ac": "D3YVV6-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Val364", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "123996425", "evidence": [ { "id": "rs3388944262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388944262" } ] } ] }, { "uniprot_canonical_ac": "D3YVV6-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Asn382", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "123996479", "evidence": [ { "id": "rs3388944101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388944101" } ] } ] }, { "uniprot_canonical_ac": "D3YVV6-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Ser396", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "123996522", "evidence": [ { "id": "rs3388951026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388951026" } ] } ] }, { "uniprot_canonical_ac": "D3YVV6-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Asp414", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "123996575", "evidence": [ { "id": "rs3388946616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388946616" } ] } ] }, { "uniprot_canonical_ac": "D3YVV6-1", "start_pos": "416", "end_pos": "416", "site_lbl": "Asp416", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "123996582", "evidence": [ { "id": "rs243759768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243759768" } ] } ] }, { "uniprot_canonical_ac": "D3YVV6-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Phe424", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "7", "chr_pos": "123996606", "evidence": [ { "id": "rs3388918358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388918358" } ] } ] } ], "record_id": "D3YVV6-1" }, { "uniprot_canonical_ac": "D3Z347-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3Z347", "url": "https://www.uniprot.org/uniprotkb/D3Z347" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 212, "chemical_mass": 24639.0, "gene_names": "Slx;EG664958;Slx;Xmr", "protein_name": "", "disease": [ { "disease_id": "DOID:0070176", "name": "spermatogenic failure 4", "description": "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23.", "url": "https://disease-ontology.org/term/DOID:0070176", "evidence": [ { "id": "0070176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070176" } ], "weight": 0.0 } ], "biological_process": [ { "name": "sex determination", "id": "GO:0007530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007530", "evidence": [ { "database": "UniProtKB", "id": "D3Z347", "url": "https://www.uniprot.org/uniprotkb/D3Z347" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "D3Z347", "url": "https://www.uniprot.org/uniprotkb/D3Z347" } ], "pmid": "" }, { "name": "single fertilization", "id": "GO:0007338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007338", "evidence": [ { "database": "UniProtKB", "id": "D3Z347", "url": "https://www.uniprot.org/uniprotkb/D3Z347" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "D3Z347", "url": "https://www.uniprot.org/uniprotkb/D3Z347" } ], "pmid": "" }, { "name": "spermatid differentiation", "id": "GO:0048515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048515", "evidence": [ { "database": "UniProtKB", "id": "D3Z347", "url": "https://www.uniprot.org/uniprotkb/D3Z347" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "D3Z347", "url": "https://www.uniprot.org/uniprotkb/D3Z347" } ], "pmid": "" }, { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "D3Z347", "url": "https://www.uniprot.org/uniprotkb/D3Z347" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D3Z347", "url": "https://www.uniprot.org/uniprotkb/D3Z347" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D3Z347", "url": "https://www.uniprot.org/uniprotkb/D3Z347" } ], "pmid": "" }, { "name": "XY body", "id": "GO:0001741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001741", "evidence": [ { "database": "UniProtKB", "id": "D3Z347", "url": "https://www.uniprot.org/uniprotkb/D3Z347" } ], "pmid": "" }, { "name": "synaptonemal complex", "id": "GO:0000795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000795", "evidence": [ { "database": "UniProtKB", "id": "D3Z347", "url": "https://www.uniprot.org/uniprotkb/D3Z347" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3Z347-1" }, { "uniprot_canonical_ac": "E9PUA5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PUA5", "url": "https://www.uniprot.org/uniprotkb/E9PUA5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 672, "chemical_mass": 73682.0, "gene_names": "Kifc5b;Hset;KNSL2;Kifc5a;Kifc5b", "protein_name": "Kinesin-like protein", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "E9PUA5", "url": "https://www.uniprot.org/uniprotkb/E9PUA5" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "E9PUA5", "url": "https://www.uniprot.org/uniprotkb/E9PUA5" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "E9PUA5", "url": "https://www.uniprot.org/uniprotkb/E9PUA5" } ], "pmid": "" }, { "name": "microtubule motor activity", "id": "GO:0003777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003777", "evidence": [ { "database": "UniProtKB", "id": "E9PUA5", "url": "https://www.uniprot.org/uniprotkb/E9PUA5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9PUA5", "url": "https://www.uniprot.org/uniprotkb/E9PUA5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E9PUA5", "url": "https://www.uniprot.org/uniprotkb/E9PUA5" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "E9PUA5", "url": "https://www.uniprot.org/uniprotkb/E9PUA5" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "E9PUA5", "url": "https://www.uniprot.org/uniprotkb/E9PUA5" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "E9PUA5", "url": "https://www.uniprot.org/uniprotkb/E9PUA5" } ], "pmid": "" }, { "name": "kinesin complex", "id": "GO:0005871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005871", "evidence": [ { "database": "UniProtKB", "id": "E9PUA5", "url": "https://www.uniprot.org/uniprotkb/E9PUA5" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "E9PUA5", "url": "https://www.uniprot.org/uniprotkb/E9PUA5" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "E9PUA5", "url": "https://www.uniprot.org/uniprotkb/E9PUA5" } ], "pmid": "" } ], "biological_process": [ { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "E9PUA5", "url": "https://www.uniprot.org/uniprotkb/E9PUA5" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "E9PUA5", "url": "https://www.uniprot.org/uniprotkb/E9PUA5" } ], "pmid": "" }, { "name": "microtubule-based movement", "id": "GO:0007018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007018", "evidence": [ { "database": "UniProtKB", "id": "E9PUA5", "url": "https://www.uniprot.org/uniprotkb/E9PUA5" } ], "pmid": "" }, { "name": "mitotic metaphase chromosome alignment", "id": "GO:0007080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007080", "evidence": [ { "database": "UniProtKB", "id": "E9PUA5", "url": "https://www.uniprot.org/uniprotkb/E9PUA5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PUA5-1" }, { "uniprot_canonical_ac": "E9PWP9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PWP9", "url": "https://www.uniprot.org/uniprotkb/E9PWP9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1381, "chemical_mass": 154101.0, "gene_names": "Spata31e2;4931408C20Rik;Spata31e2", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PWP9-1" }, { "uniprot_canonical_ac": "E9Q0T8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q0T8", "url": "https://www.uniprot.org/uniprotkb/E9Q0T8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 4024, "chemical_mass": 460904.0, "gene_names": "Dnah7a;Dnah7a;Dnahc7a;Dnahc7b;Dnahc7;Gm992", "protein_name": "Dynein axonemal heavy chain 7", "disease": [ { "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": "cilium movement involved in cell motility", "id": "GO:0060294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060294", "evidence": [ { "database": "UniProtKB", "id": "E9Q0T8", "url": "https://www.uniprot.org/uniprotkb/E9Q0T8" } ], "pmid": "" }, { "name": "cilium movement", "id": "GO:0003341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003341", "evidence": [ { "database": "UniProtKB", "id": "E9Q0T8", "url": "https://www.uniprot.org/uniprotkb/E9Q0T8" } ], "pmid": "" }, { "name": "inner dynein arm assembly", "id": "GO:0036159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036159", "evidence": [ { "database": "UniProtKB", "id": "E9Q0T8", "url": "https://www.uniprot.org/uniprotkb/E9Q0T8" } ], "pmid": "" } ], "cellular_component": [ { "name": "sperm annulus", "id": "GO:0097227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097227", "evidence": [ { "database": "UniProtKB", "id": "E9Q0T8", "url": "https://www.uniprot.org/uniprotkb/E9Q0T8" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "E9Q0T8", "url": "https://www.uniprot.org/uniprotkb/E9Q0T8" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "E9Q0T8", "url": "https://www.uniprot.org/uniprotkb/E9Q0T8" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "E9Q0T8", "url": "https://www.uniprot.org/uniprotkb/E9Q0T8" } ], "pmid": "" }, { "name": "inner dynein arm", "id": "GO:0036156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036156", "evidence": [ { "database": "UniProtKB", "id": "E9Q0T8", "url": "https://www.uniprot.org/uniprotkb/E9Q0T8" } ], "pmid": "" }, { "name": "9+2 motile cilium", "id": "GO:0097729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097729", "evidence": [ { "database": "UniProtKB", "id": "E9Q0T8", "url": "https://www.uniprot.org/uniprotkb/E9Q0T8" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "E9Q0T8", "url": "https://www.uniprot.org/uniprotkb/E9Q0T8" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "E9Q0T8", "url": "https://www.uniprot.org/uniprotkb/E9Q0T8" } ], "pmid": "" }, { "name": "minus-end-directed microtubule motor activity", "id": "GO:0008569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008569", "evidence": [ { "database": "UniProtKB", "id": "E9Q0T8", "url": "https://www.uniprot.org/uniprotkb/E9Q0T8" } ], "pmid": "" }, { "name": "dynein light intermediate chain binding", "id": "GO:0051959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051959", "evidence": [ { "database": "UniProtKB", "id": "E9Q0T8", "url": "https://www.uniprot.org/uniprotkb/E9Q0T8" } ], "pmid": "" }, { "name": "dynein intermediate chain binding", "id": "GO:0045505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045505", "evidence": [ { "database": "UniProtKB", "id": "E9Q0T8", "url": "https://www.uniprot.org/uniprotkb/E9Q0T8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q0T8-1", "start_pos": "1978", "end_pos": "1978", "site_lbl": "Thr1978", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1978, "start_aa": "Thr", "end_pos": 1978, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1978", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q0T8-1", "start_pos": "2170", "end_pos": "2170", "site_lbl": "Thr2170", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2170, "start_aa": "Thr", "end_pos": 2170, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2170", "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": "1", "chr_pos": "53557904", "evidence": [ { "id": "rs581323381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581323381" } ] } ] }, { "uniprot_canonical_ac": "E9Q0T8-1", "start_pos": "2559", "end_pos": "2559", "site_lbl": "Thr2559", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2559, "start_aa": "Thr", "end_pos": 2559, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2559", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "E9Q0T8-1" }, { "uniprot_canonical_ac": "E9Q6D6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q6D6", "url": "https://www.uniprot.org/uniprotkb/E9Q6D6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 583, "chemical_mass": 67644.0, "gene_names": "Znf277;2410017E24Rik;NIRF4;Zfp277;Znf277", "protein_name": "Zinc finger protein 277", "disease": [], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "E9Q6D6", "url": "https://www.uniprot.org/uniprotkb/E9Q6D6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E9Q6D6", "url": "https://www.uniprot.org/uniprotkb/E9Q6D6" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "E9Q6D6", "url": "https://www.uniprot.org/uniprotkb/E9Q6D6" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "E9Q6D6", "url": "https://www.uniprot.org/uniprotkb/E9Q6D6" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E9Q6D6", "url": "https://www.uniprot.org/uniprotkb/E9Q6D6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q6D6-1" }, { "uniprot_canonical_ac": "E9Q6Y8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q6Y8", "url": "https://www.uniprot.org/uniprotkb/E9Q6Y8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1344, "chemical_mass": 146319.0, "gene_names": "Usp31;6330567E21Rik;Usp31;mKIAA1203", "protein_name": "ubiquitinyl hydrolase 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9Q6Y8", "url": "https://www.uniprot.org/uniprotkb/E9Q6Y8" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "E9Q6Y8", "url": "https://www.uniprot.org/uniprotkb/E9Q6Y8" } ], "pmid": "" }, { "name": "protein deubiquitination", "id": "GO:0016579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016579", "evidence": [ { "database": "UniProtKB", "id": "E9Q6Y8", "url": "https://www.uniprot.org/uniprotkb/E9Q6Y8" } ], "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": "E9Q6Y8", "url": "https://www.uniprot.org/uniprotkb/E9Q6Y8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q6Y8-1", "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": "E9Q6Y8-1", "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" } ] } ] } ], "record_id": "E9Q6Y8-1" }, { "uniprot_canonical_ac": "E9Q8Z1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q8Z1", "url": "https://www.uniprot.org/uniprotkb/E9Q8Z1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 469, "chemical_mass": 54347.0, "gene_names": "Ccdc121rt3;Ccdc121rt3;EG625424;Gm6583", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q8Z1-1" }, { "uniprot_canonical_ac": "E9Q9Z8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q9Z8", "url": "https://www.uniprot.org/uniprotkb/E9Q9Z8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 172, "chemical_mass": 20397.0, "gene_names": "Gm3173;100041162;Gm3173", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q9Z8-1" }, { "uniprot_canonical_ac": "J3QM38-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "J3QM38", "url": "https://www.uniprot.org/uniprotkb/J3QM38" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 661, "chemical_mass": 77431.0, "gene_names": "Zfp994;EG240038;Gm4944;Zfp994", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "J3QM38", "url": "https://www.uniprot.org/uniprotkb/J3QM38" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "J3QM38", "url": "https://www.uniprot.org/uniprotkb/J3QM38" } ], "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": "J3QM38", "url": "https://www.uniprot.org/uniprotkb/J3QM38" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "J3QM38", "url": "https://www.uniprot.org/uniprotkb/J3QM38" } ], "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": "J3QM38", "url": "https://www.uniprot.org/uniprotkb/J3QM38" } ], "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": "J3QM38", "url": "https://www.uniprot.org/uniprotkb/J3QM38" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "J3QM38-1" }, { "uniprot_canonical_ac": "L7N217-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "L7N217", "url": "https://www.uniprot.org/uniprotkb/L7N217" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 831, "chemical_mass": 94694.0, "gene_names": "Vmn2r12;EG627569;Gm6769;Vmn2r12", "protein_name": "", "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": "L7N217", "url": "https://www.uniprot.org/uniprotkb/L7N217" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "L7N217", "url": "https://www.uniprot.org/uniprotkb/L7N217" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "L7N217-1" }, { "uniprot_canonical_ac": "Q5SQK8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5SQK8", "url": "https://www.uniprot.org/uniprotkb/Q5SQK8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 218, "chemical_mass": 24134.0, "gene_names": "4930512M02Rik;4930512M02Rik", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5SQK8-1" }, { "uniprot_canonical_ac": "S4R1G7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "S4R1G7", "url": "https://www.uniprot.org/uniprotkb/S4R1G7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 115, "chemical_mass": 13310.0, "gene_names": "H2ab3;EG624957;H2A.Bbd3;H2ab3;H2afb3-ps;H2afb3", "protein_name": "Histone H2A", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "S4R1G7", "url": "https://www.uniprot.org/uniprotkb/S4R1G7" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "S4R1G7", "url": "https://www.uniprot.org/uniprotkb/S4R1G7" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "S4R1G7", "url": "https://www.uniprot.org/uniprotkb/S4R1G7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "S4R1G7", "url": "https://www.uniprot.org/uniprotkb/S4R1G7" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "S4R1G7", "url": "https://www.uniprot.org/uniprotkb/S4R1G7" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "S4R1G7", "url": "https://www.uniprot.org/uniprotkb/S4R1G7" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "S4R1G7", "url": "https://www.uniprot.org/uniprotkb/S4R1G7" } ], "pmid": "" }, { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "S4R1G7", "url": "https://www.uniprot.org/uniprotkb/S4R1G7" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "S4R1G7", "url": "https://www.uniprot.org/uniprotkb/S4R1G7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "S4R1G7-1" }, { "uniprot_canonical_ac": "S4R213-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "S4R213", "url": "https://www.uniprot.org/uniprotkb/S4R213" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 581, "chemical_mass": 63879.0, "gene_names": "Lactbl1;Lactbl1", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "S4R213-1" }, { "uniprot_canonical_ac": "A0A075B5J4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B5J4", "url": "https://www.uniprot.org/uniprotkb/A0A075B5J4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 173, "chemical_mass": 19279.0, "gene_names": "Trbc2", "protein_name": "", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5J4", "url": "https://www.uniprot.org/uniprotkb/A0A075B5J4" } ], "pmid": "" }, { "name": "alpha-beta T cell receptor complex", "id": "GO:0042105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042105", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5J4", "url": "https://www.uniprot.org/uniprotkb/A0A075B5J4" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5J4", "url": "https://www.uniprot.org/uniprotkb/A0A075B5J4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B5J4-1" }, { "uniprot_canonical_ac": "A0A075B601-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B601", "url": "https://www.uniprot.org/uniprotkb/A0A075B601" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 112, "chemical_mass": 12604.0, "gene_names": "Trav9-1", "protein_name": "", "disease": [], "cellular_component": [ { "name": "T cell receptor complex", "id": "GO:0042101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042101", "evidence": [ { "database": "UniProtKB", "id": "A0A075B601", "url": "https://www.uniprot.org/uniprotkb/A0A075B601" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A075B601", "url": "https://www.uniprot.org/uniprotkb/A0A075B601" } ], "pmid": "" } ], "biological_process": [ { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A075B601", "url": "https://www.uniprot.org/uniprotkb/A0A075B601" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B601-1" }, { "uniprot_canonical_ac": "A0A075B652-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B652", "url": "https://www.uniprot.org/uniprotkb/A0A075B652" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 114, "chemical_mass": 13059.0, "gene_names": "Trav5-4", "protein_name": "", "disease": [], "cellular_component": [ { "name": "T cell receptor complex", "id": "GO:0042101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042101", "evidence": [ { "database": "UniProtKB", "id": "A0A075B652", "url": "https://www.uniprot.org/uniprotkb/A0A075B652" } ], "pmid": "" } ], "biological_process": [ { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "A0A075B652", "url": "https://www.uniprot.org/uniprotkb/A0A075B652" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A075B652", "url": "https://www.uniprot.org/uniprotkb/A0A075B652" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B652-1" }, { "uniprot_canonical_ac": "A0A075B666-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B666", "url": "https://www.uniprot.org/uniprotkb/A0A075B666" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 115, "chemical_mass": 12709.0, "gene_names": "Igkv13-85", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A075B666", "url": "https://www.uniprot.org/uniprotkb/A0A075B666" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A075B666", "url": "https://www.uniprot.org/uniprotkb/A0A075B666" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A075B666", "url": "https://www.uniprot.org/uniprotkb/A0A075B666" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "A0A075B666", "url": "https://www.uniprot.org/uniprotkb/A0A075B666" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A075B666", "url": "https://www.uniprot.org/uniprotkb/A0A075B666" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B666-1" }, { "uniprot_canonical_ac": "A0A075B6D8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B6D8", "url": "https://www.uniprot.org/uniprotkb/A0A075B6D8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 92, "chemical_mass": 10278.0, "gene_names": "Trav3-3", "protein_name": "", "disease": [], "cellular_component": [ { "name": "T cell receptor complex", "id": "GO:0042101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042101", "evidence": [ { "database": "UniProtKB", "id": "A0A075B6D8", "url": "https://www.uniprot.org/uniprotkb/A0A075B6D8" } ], "pmid": "" } ], "biological_process": [ { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A075B6D8", "url": "https://www.uniprot.org/uniprotkb/A0A075B6D8" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "A0A075B6D8", "url": "https://www.uniprot.org/uniprotkb/A0A075B6D8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B6D8-1" }, { "uniprot_canonical_ac": "A0A087WR45-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A087WR45", "url": "https://www.uniprot.org/uniprotkb/A0A087WR45" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1010, "chemical_mass": 106837.0, "gene_names": "Prob1;Gm1614;Prob1", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A0A087WR45", "url": "https://www.uniprot.org/uniprotkb/A0A087WR45" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A087WR45-1", "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": "A0A087WR45-1", "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": "A0A087WR45-1", "start_pos": "981", "end_pos": "981", "site_lbl": "Thr981", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 981, "start_aa": "Thr", "end_pos": 981, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr981", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "A0A087WR45-1" }, { "uniprot_canonical_ac": "A0A087WSP8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A087WSP8", "url": "https://www.uniprot.org/uniprotkb/A0A087WSP8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 697, "chemical_mass": 81519.0, "gene_names": "Gm29106", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A087WSP8", "url": "https://www.uniprot.org/uniprotkb/A0A087WSP8" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A0A087WSP8", "url": "https://www.uniprot.org/uniprotkb/A0A087WSP8" } ], "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": "A0A087WSP8", "url": "https://www.uniprot.org/uniprotkb/A0A087WSP8" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A087WSP8", "url": "https://www.uniprot.org/uniprotkb/A0A087WSP8" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "A0A087WSP8", "url": "https://www.uniprot.org/uniprotkb/A0A087WSP8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A087WSP8-1" }, { "uniprot_canonical_ac": "E9PWW9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PWW9", "url": "https://www.uniprot.org/uniprotkb/E9PWW9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1441, "chemical_mass": 161750.0, "gene_names": "Rsf1;4832420A03Rik;C030033M12Rik;Gm164;Hbxap;Rsf1;XAP8;p325", "protein_name": "", "disease": [], "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": "E9PWW9", "url": "https://www.uniprot.org/uniprotkb/E9PWW9" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "E9PWW9", "url": "https://www.uniprot.org/uniprotkb/E9PWW9" } ], "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": "E9PWW9", "url": "https://www.uniprot.org/uniprotkb/E9PWW9" } ], "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": "E9PWW9", "url": "https://www.uniprot.org/uniprotkb/E9PWW9" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "E9PWW9", "url": "https://www.uniprot.org/uniprotkb/E9PWW9" } ], "pmid": "" }, { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "E9PWW9", "url": "https://www.uniprot.org/uniprotkb/E9PWW9" } ], "pmid": "" }, { "name": "DNA-templated transcription initiation", "id": "GO:0006352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006352", "evidence": [ { "database": "UniProtKB", "id": "E9PWW9", "url": "https://www.uniprot.org/uniprotkb/E9PWW9" } ], "pmid": "" }, { "name": "positive regulation of viral transcription", "id": "GO:0050434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050434", "evidence": [ { "database": "UniProtKB", "id": "E9PWW9", "url": "https://www.uniprot.org/uniprotkb/E9PWW9" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "E9PWW9", "url": "https://www.uniprot.org/uniprotkb/E9PWW9" } ], "pmid": "" } ], "cellular_component": [ { "name": "RSF complex", "id": "GO:0031213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031213", "evidence": [ { "database": "UniProtKB", "id": "E9PWW9", "url": "https://www.uniprot.org/uniprotkb/E9PWW9" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9PWW9", "url": "https://www.uniprot.org/uniprotkb/E9PWW9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "E9PWW9", "url": "https://www.uniprot.org/uniprotkb/E9PWW9" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E9PWW9", "url": "https://www.uniprot.org/uniprotkb/E9PWW9" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "E9PWW9", "url": "https://www.uniprot.org/uniprotkb/E9PWW9" } ], "pmid": "" }, { "name": "histone octamer slider activity", "id": "GO:0140751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140751", "evidence": [ { "database": "UniProtKB", "id": "E9PWW9", "url": "https://www.uniprot.org/uniprotkb/E9PWW9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PWW9-1" }, { "uniprot_canonical_ac": "A0A075B674-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B674", "url": "https://www.uniprot.org/uniprotkb/A0A075B674" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 98, "chemical_mass": 11047.0, "gene_names": "Ighv1-78", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A075B674", "url": "https://www.uniprot.org/uniprotkb/A0A075B674" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A075B674", "url": "https://www.uniprot.org/uniprotkb/A0A075B674" } ], "pmid": "" } ], "molecular_function": [ { "name": "antigen binding", "id": "GO:0003823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003823", "evidence": [ { "database": "UniProtKB", "id": "A0A075B674", "url": "https://www.uniprot.org/uniprotkb/A0A075B674" } ], "pmid": "" } ], "biological_process": [ { "name": "immunoglobulin mediated immune response", "id": "GO:0016064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016064", "evidence": [ { "database": "UniProtKB", "id": "A0A075B674", "url": "https://www.uniprot.org/uniprotkb/A0A075B674" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A075B674", "url": "https://www.uniprot.org/uniprotkb/A0A075B674" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B674-1" }, { "uniprot_canonical_ac": "A0A0J9YU71-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0J9YU71", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YU71" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 552, "chemical_mass": 62990.0, "gene_names": "Zfp811;Zfp811", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A0J9YU71", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YU71" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A0A0J9YU71", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YU71" } ], "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": "A0A0J9YU71", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YU71" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "A0A0J9YU71", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YU71" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A0J9YU71", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YU71" } ], "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": "A0A0J9YU71", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YU71" } ], "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": "A0A0J9YU71", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YU71" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0J9YU71-1" }, { "uniprot_canonical_ac": "D3Z393-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3Z393", "url": "https://www.uniprot.org/uniprotkb/D3Z393" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 217, "chemical_mass": 24777.0, "gene_names": "Mkrn2os;2510049J12Rik;Mkrn2os", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3Z393-1" }, { "uniprot_canonical_ac": "A1L3P4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 702, "chemical_mass": 77953.0, "gene_names": "Slc9a6;3732426M05;6430520C02Rik;NHE-6;NHE6;Nhe6;Slc9a6;mKIAA0267", "protein_name": "Sodium/hydrogen exchanger 6", "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:0060825", "name": "Christianson syndrome", "description": "A syndromic X-linked intellectual disability characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types that has_material_basis_in mutation in hemizygous mutation in the SLC9A6 gene on chromosome Xq26.", "url": "https://disease-ontology.org/term/DOID:0060825", "evidence": [ { "id": "0060825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060825" } ], "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": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "axonal spine", "id": "GO:0044308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044308", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" } ], "molecular_function": [ { "name": "sodium:proton antiporter activity", "id": "GO:0015385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015385", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "potassium:proton antiporter activity", "id": "GO:0015386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015386", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" } ], "biological_process": [ { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "dendritic spine development", "id": "GO:0060996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060996", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "dendrite extension", "id": "GO:0097484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097484", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "regulation of intracellular pH", "id": "GO:0051453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051453", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "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": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "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": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "sodium ion import across plasma membrane", "id": "GO:0098719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098719", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "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": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "glial cell activation", "id": "GO:0061900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061900", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle lumen acidification", "id": "GO:1901546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901546", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" }, { "name": "regulation of pH", "id": "GO:0006885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006885", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A1L3P4-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Asn129", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G05962QB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YGIHVPSDVNNVTLSCEVQSSPTTLLVNVSGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 129, "start_aa": "Asn", "end_pos": 129, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn129", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "A1L3P4-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Asn146", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G90784VC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YGIHVPSDVNNVTLSCEVQSSPTTLLVNVSGK", "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" } ] } ] }, { "uniprot_canonical_ac": "A1L3P4-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Ser333", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "X", "chr_pos": "55678905", "evidence": [ { "id": "rs3389561726", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389561726" } ] } ] }, { "uniprot_canonical_ac": "A1L3P4-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ala11", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Mice have normal brain size at 6 months of age and do not show cerebellar degeneration or defective neuronal arborization. Neurons from male mice also do not demonstrate an abnormality in intraendosomal pH compared with controls.", "evidence": [ { "database": "UniProtKB", "id": "A1L3P4", "url": "https://www.uniprot.org/uniprotkb/A1L3P4" }, { "database": "PubMed", "id": "31676550", "url": "https://glygen.org/publication/PubMed/31676550" } ] } ] } ], "record_id": "A1L3P4-1" }, { "uniprot_canonical_ac": "L7N294-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "L7N294", "url": "https://www.uniprot.org/uniprotkb/L7N294" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 199, "chemical_mass": 23736.0, "gene_names": "Speer1f;Gm8897", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "L7N294-1" }, { "uniprot_canonical_ac": "E9PX14-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PX14", "url": "https://www.uniprot.org/uniprotkb/E9PX14" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 254, "chemical_mass": 30425.0, "gene_names": "Ccdc152;Ccdc152", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PX14-1" }, { "uniprot_canonical_ac": "A0A1W2P6U8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1W2P6U8", "url": "https://www.uniprot.org/uniprotkb/A0A1W2P6U8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 4986, "chemical_mass": 551852.0, "gene_names": "Spata31h1;4932415D10Rik;Spata31h1", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A1W2P6U8-1", "start_pos": "1064", "end_pos": "1064", "site_lbl": "Thr1064", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1064, "start_aa": "Thr", "end_pos": 1064, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1064", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A0A1W2P6U8-1", "start_pos": "1651", "end_pos": "1651", "site_lbl": "His1651", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HGT->NGT).", "chr_id": "10", "chr_pos": "82128058", "evidence": [ { "id": "rs239699435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239699435" } ] } ] }, { "uniprot_canonical_ac": "A0A1W2P6U8-1", "start_pos": "3004", "end_pos": "3004", "site_lbl": "Gly3004", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLG->NLS).", "chr_id": "10", "chr_pos": "82123999", "evidence": [ { "id": "rs3548098069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3548098069" } ] } ] }, { "uniprot_canonical_ac": "A0A1W2P6U8-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Ser36", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SRT->NRT).", "chr_id": "10", "chr_pos": "82152258", "evidence": [ { "id": "rs212245734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212245734" } ] } ] }, { "uniprot_canonical_ac": "A0A1W2P6U8-1", "start_pos": "4113", "end_pos": "4113", "site_lbl": "Ile4113", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ILC->NLC).", "chr_id": "10", "chr_pos": "82120671", "evidence": [ { "id": "rs3400996903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400996903" } ] } ] }, { "uniprot_canonical_ac": "A0A1W2P6U8-1", "start_pos": "468", "end_pos": "468", "site_lbl": "Leu468", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTL->NTS).", "chr_id": "10", "chr_pos": "82131606", "evidence": [ { "id": "rs228712532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228712532" } ] } ] } ], "record_id": "A0A1W2P6U8-1" }, { "uniprot_canonical_ac": "A0A1D5RM95-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1D5RM95", "url": "https://www.uniprot.org/uniprotkb/A0A1D5RM95" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 733, "chemical_mass": 84527.0, "gene_names": "Zfp853;Gm792;Zfp853", "protein_name": "", "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": "A0A1D5RM95", "url": "https://www.uniprot.org/uniprotkb/A0A1D5RM95" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A1D5RM95", "url": "https://www.uniprot.org/uniprotkb/A0A1D5RM95" } ], "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": "A0A1D5RM95", "url": "https://www.uniprot.org/uniprotkb/A0A1D5RM95" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "A0A1D5RM95", "url": "https://www.uniprot.org/uniprotkb/A0A1D5RM95" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A1D5RM95", "url": "https://www.uniprot.org/uniprotkb/A0A1D5RM95" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A0A1D5RM95", "url": "https://www.uniprot.org/uniprotkb/A0A1D5RM95" } ], "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": "A0A1D5RM95", "url": "https://www.uniprot.org/uniprotkb/A0A1D5RM95" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1D5RM95-1" }, { "uniprot_canonical_ac": "E9Q6E9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q6E9", "url": "https://www.uniprot.org/uniprotkb/E9Q6E9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1354, "chemical_mass": 146618.0, "gene_names": "Simc1;4732471D19Rik;Pleiad;Simc1", "protein_name": "SUMO-interacting motif-containing protein 1", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "E9Q6E9", "url": "https://www.uniprot.org/uniprotkb/E9Q6E9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E9Q6E9", "url": "https://www.uniprot.org/uniprotkb/E9Q6E9" } ], "pmid": "" }, { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "E9Q6E9", "url": "https://www.uniprot.org/uniprotkb/E9Q6E9" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "E9Q6E9", "url": "https://www.uniprot.org/uniprotkb/E9Q6E9" } ], "pmid": "" } ], "molecular_function": [ { "name": "peptidase inhibitor activity", "id": "GO:0030414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030414", "evidence": [ { "database": "UniProtKB", "id": "E9Q6E9", "url": "https://www.uniprot.org/uniprotkb/E9Q6E9" } ], "pmid": "" }, { "name": "SUMO polymer binding", "id": "GO:0032184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032184", "evidence": [ { "database": "UniProtKB", "id": "E9Q6E9", "url": "https://www.uniprot.org/uniprotkb/E9Q6E9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q6E9-1" }, { "uniprot_canonical_ac": "E0CXP6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E0CXP6", "url": "https://www.uniprot.org/uniprotkb/E0CXP6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 133, "chemical_mass": 14379.0, "gene_names": "Umad1;Gm16039;Umad1", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E0CXP6-1" }, { "uniprot_canonical_ac": "E9Q7L6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q7L6", "url": "https://www.uniprot.org/uniprotkb/E9Q7L6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 429, "chemical_mass": 46426.0, "gene_names": "Foxn2;3230402J05Rik;6030465J18Rik;Fkh19;Foxn1;Foxn2;HTLF", "protein_name": "", "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": "E9Q7L6", "url": "https://www.uniprot.org/uniprotkb/E9Q7L6" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "E9Q7L6", "url": "https://www.uniprot.org/uniprotkb/E9Q7L6" } ], "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": "E9Q7L6", "url": "https://www.uniprot.org/uniprotkb/E9Q7L6" } ], "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": "E9Q7L6", "url": "https://www.uniprot.org/uniprotkb/E9Q7L6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9Q7L6", "url": "https://www.uniprot.org/uniprotkb/E9Q7L6" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "E9Q7L6", "url": "https://www.uniprot.org/uniprotkb/E9Q7L6" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "E9Q7L6", "url": "https://www.uniprot.org/uniprotkb/E9Q7L6" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "E9Q7L6", "url": "https://www.uniprot.org/uniprotkb/E9Q7L6" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "E9Q7L6", "url": "https://www.uniprot.org/uniprotkb/E9Q7L6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q7L6-1", "start_pos": "291", "end_pos": "291", "site_lbl": "Thr291", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 291, "start_aa": "Thr", "end_pos": 291, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr291", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q7L6-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Asn301", "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": "ADHNYSANSVAAQR", "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" } ] } ] } ], "record_id": "E9Q7L6-1" }, { "uniprot_canonical_ac": "A0A075B627-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B627", "url": "https://www.uniprot.org/uniprotkb/A0A075B627" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 88, "chemical_mass": 9407.0, "gene_names": "Trav13d-2;Trav13n-2;Trav13d-2;Trav13n-2", "protein_name": "", "disease": [], "cellular_component": [ { "name": "T cell receptor complex", "id": "GO:0042101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042101", "evidence": [ { "database": "UniProtKB", "id": "A0A075B627", "url": "https://www.uniprot.org/uniprotkb/A0A075B627" } ], "pmid": "" } ], "biological_process": [ { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A075B627", "url": "https://www.uniprot.org/uniprotkb/A0A075B627" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B627-1" }, { "uniprot_canonical_ac": "A0A0A6YYE8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YYE8", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YYE8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 116, "chemical_mass": 13527.0, "gene_names": "Trgv7;Tcrg-V7", "protein_name": "", "disease": [], "cellular_component": [ { "name": "T cell receptor complex", "id": "GO:0042101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042101", "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YYE8", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YYE8" } ], "pmid": "" } ], "biological_process": [ { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YYE8", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YYE8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0A6YYE8-1" }, { "uniprot_canonical_ac": "A0A0B4J1H5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1H5", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1H5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 111, "chemical_mass": 12405.0, "gene_names": "Trbv20", "protein_name": "", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1H5", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1H5" } ], "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": "A0A0B4J1H5", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1H5" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1H5", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1H5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4J1H5-1" }, { "uniprot_canonical_ac": "A0A0B4J1K3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1K3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1K3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 109, "chemical_mass": 11912.0, "gene_names": "Trav13-5;B230359F08Rik", "protein_name": "", "disease": [], "cellular_component": [ { "name": "T cell receptor complex", "id": "GO:0042101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042101", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1K3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1K3" } ], "pmid": "" } ], "biological_process": [ { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1K3", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1K3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4J1K3-1" }, { "uniprot_canonical_ac": "A0A0G2JDH7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JDH7", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JDH7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 19, "chemical_mass": 2176.0, "gene_names": "Traj47", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0G2JDH7-1" }, { "uniprot_canonical_ac": "A0A140T8M9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M9", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 119, "chemical_mass": 13117.0, "gene_names": "Igkv1-122", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M9", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M9", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M9" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M9", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M9" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M9", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M9" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A140T8M9", "url": "https://www.uniprot.org/uniprotkb/A0A140T8M9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A140T8M9-1" }, { "uniprot_canonical_ac": "E9PY43-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PY43", "url": "https://www.uniprot.org/uniprotkb/E9PY43" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 332, "chemical_mass": 37350.0, "gene_names": "Erich1;Erich1", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PY43-1" }, { "uniprot_canonical_ac": "A0A1B0GSF6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSF6", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSF6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 103, "chemical_mass": 10831.0, "gene_names": "Smim32;Gm45623;Smim32", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1B0GSF6-1" }, { "uniprot_canonical_ac": "A0A1D5RM70-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1D5RM70", "url": "https://www.uniprot.org/uniprotkb/A0A1D5RM70" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 265, "chemical_mass": 29182.0, "gene_names": "Potefam3f;Gm31371", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A1D5RM70-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Thr128", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 128, "start_aa": "Thr", "end_pos": 128, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr128", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A0A1D5RM70-1", "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" } ] } ] } ], "record_id": "A0A1D5RM70-1" }, { "uniprot_canonical_ac": "A2AF33-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AF33", "url": "https://www.uniprot.org/uniprotkb/A2AF33" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 45, "chemical_mass": 5249.0, "gene_names": "Tmsb15b1;Tm15b;Tmsb15b1", "protein_name": "Thymosin beta", "disease": [], "molecular_function": [ { "name": "actin monomer binding", "id": "GO:0003785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003785", "evidence": [ { "database": "UniProtKB", "id": "A2AF33", "url": "https://www.uniprot.org/uniprotkb/A2AF33" } ], "pmid": "" }, { "name": "protein sequestering activity", "id": "GO:0140311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140311", "evidence": [ { "database": "UniProtKB", "id": "A2AF33", "url": "https://www.uniprot.org/uniprotkb/A2AF33" } ], "pmid": "" } ], "biological_process": [ { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "A2AF33", "url": "https://www.uniprot.org/uniprotkb/A2AF33" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "A2AF33", "url": "https://www.uniprot.org/uniprotkb/A2AF33" } ], "pmid": "" } ], "cellular_component": [ { "name": "filamentous actin", "id": "GO:0031941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031941", "evidence": [ { "database": "UniProtKB", "id": "A2AF33", "url": "https://www.uniprot.org/uniprotkb/A2AF33" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A2AF33-1" }, { "uniprot_canonical_ac": "A2BFR3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2BFR3", "url": "https://www.uniprot.org/uniprotkb/A2BFR3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 109, "chemical_mass": 12207.0, "gene_names": "H2al1j;EG236663;Gm4906;H2al1j", "protein_name": "Histone H2A", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "A2BFR3", "url": "https://www.uniprot.org/uniprotkb/A2BFR3" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "A2BFR3", "url": "https://www.uniprot.org/uniprotkb/A2BFR3" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "A2BFR3", "url": "https://www.uniprot.org/uniprotkb/A2BFR3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A2BFR3", "url": "https://www.uniprot.org/uniprotkb/A2BFR3" } ], "pmid": "" }, { "name": "pericentric heterochromatin", "id": "GO:0005721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005721", "evidence": [ { "database": "UniProtKB", "id": "A2BFR3", "url": "https://www.uniprot.org/uniprotkb/A2BFR3" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "A2BFR3", "url": "https://www.uniprot.org/uniprotkb/A2BFR3" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "A2BFR3", "url": "https://www.uniprot.org/uniprotkb/A2BFR3" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "A2BFR3", "url": "https://www.uniprot.org/uniprotkb/A2BFR3" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "A2BFR3", "url": "https://www.uniprot.org/uniprotkb/A2BFR3" } ], "pmid": "" }, { "name": "chromosome organization", "id": "GO:0051276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051276", "evidence": [ { "database": "UniProtKB", "id": "A2BFR3", "url": "https://www.uniprot.org/uniprotkb/A2BFR3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A2BFR3-1" }, { "uniprot_canonical_ac": "B1B0X0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1B0X0", "url": "https://www.uniprot.org/uniprotkb/B1B0X0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 449, "chemical_mass": 52865.0, "gene_names": "Gm15107;Gm15107;Ott-like", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B1B0X0-1" }, { "uniprot_canonical_ac": "D3YYI9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3YYI9", "url": "https://www.uniprot.org/uniprotkb/D3YYI9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 267, "chemical_mass": 31500.0, "gene_names": "Gm7347;EG664804;Gm7347", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3YYI9-1" }, { "uniprot_canonical_ac": "D3Z450-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3Z450", "url": "https://www.uniprot.org/uniprotkb/D3Z450" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 408, "chemical_mass": 45737.0, "gene_names": "Serpina3i;2B2;EG628900;Gm6930;Serpina3i", "protein_name": "", "disease": [ { "disease_id": "DOID:0050831", "name": "familial encephalopathy with neuroserpin inclusion bodies", "description": "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.", "url": "https://disease-ontology.org/term/DOID:0050831", "evidence": [ { "id": "0050831", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050831" } ], "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: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 }, { "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: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: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:865", "name": "vasculitis", "description": "A vascular disease that is characterized by inflammation of the blood vessels.", "url": "https://disease-ontology.org/term/DOID:865", "evidence": [ { "id": "865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:865" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "D3Z450", "url": "https://www.uniprot.org/uniprotkb/D3Z450" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "D3Z450", "url": "https://www.uniprot.org/uniprotkb/D3Z450" } ], "pmid": "" } ], "biological_process": [ { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "D3Z450", "url": "https://www.uniprot.org/uniprotkb/D3Z450" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "D3Z450", "url": "https://www.uniprot.org/uniprotkb/D3Z450" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3Z450-1" }, { "uniprot_canonical_ac": "E9Q468-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q468", "url": "https://www.uniprot.org/uniprotkb/E9Q468" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 432, "chemical_mass": 48252.0, "gene_names": "Npffr1;Gm236;Gpr147;NPFF1R;NPFF1;Npffr1;OT7T022", "protein_name": "Neuropeptide FF receptor 1", "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": "E9Q468", "url": "https://www.uniprot.org/uniprotkb/E9Q468" } ], "pmid": "" }, { "name": "neuropeptide receptor activity", "id": "GO:0008188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008188", "evidence": [ { "database": "UniProtKB", "id": "E9Q468", "url": "https://www.uniprot.org/uniprotkb/E9Q468" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9Q468", "url": "https://www.uniprot.org/uniprotkb/E9Q468" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "E9Q468", "url": "https://www.uniprot.org/uniprotkb/E9Q468" } ], "pmid": "" }, { "name": "9+0 non-motile cilium", "id": "GO:0097731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097731", "evidence": [ { "database": "UniProtKB", "id": "E9Q468", "url": "https://www.uniprot.org/uniprotkb/E9Q468" } ], "pmid": "" } ], "biological_process": [ { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "E9Q468", "url": "https://www.uniprot.org/uniprotkb/E9Q468" } ], "pmid": "" }, { "name": "cellular response to hormone stimulus", "id": "GO:0032870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032870", "evidence": [ { "database": "UniProtKB", "id": "E9Q468", "url": "https://www.uniprot.org/uniprotkb/E9Q468" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q468-1" }, { "uniprot_canonical_ac": "F6YJZ8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "F6YJZ8", "url": "https://www.uniprot.org/uniprotkb/F6YJZ8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 199, "chemical_mass": 23614.0, "gene_names": "Speer1h;EG623898;Gm6460;Speer1h", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F6YJZ8-1" }, { "uniprot_canonical_ac": "F6YUX7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "F6YUX7", "url": "https://www.uniprot.org/uniprotkb/F6YUX7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 155, "chemical_mass": 17618.0, "gene_names": "Ear14", "protein_name": "", "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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "F6YUX7", "url": "https://www.uniprot.org/uniprotkb/F6YUX7" } ], "pmid": "" } ], "biological_process": [ { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "F6YUX7", "url": "https://www.uniprot.org/uniprotkb/F6YUX7" } ], "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": "F6YUX7", "url": "https://www.uniprot.org/uniprotkb/F6YUX7" } ], "pmid": "" }, { "name": "innate immune response in mucosa", "id": "GO:0002227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002227", "evidence": [ { "database": "UniProtKB", "id": "F6YUX7", "url": "https://www.uniprot.org/uniprotkb/F6YUX7" } ], "pmid": "" } ], "molecular_function": [ { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "F6YUX7", "url": "https://www.uniprot.org/uniprotkb/F6YUX7" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "F6YUX7", "url": "https://www.uniprot.org/uniprotkb/F6YUX7" } ], "pmid": "" }, { "name": "endonuclease activity", "id": "GO:0004519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004519", "evidence": [ { "database": "UniProtKB", "id": "F6YUX7", "url": "https://www.uniprot.org/uniprotkb/F6YUX7" } ], "pmid": "" }, { "name": "RNA nuclease activity", "id": "GO:0004540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004540", "evidence": [ { "database": "UniProtKB", "id": "F6YUX7", "url": "https://www.uniprot.org/uniprotkb/F6YUX7" } ], "pmid": "" }, { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "F6YUX7", "url": "https://www.uniprot.org/uniprotkb/F6YUX7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F6YUX7-1" }, { "uniprot_canonical_ac": "H3BK37-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "H3BK37", "url": "https://www.uniprot.org/uniprotkb/H3BK37" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 856, "chemical_mass": 98426.0, "gene_names": "Vmn2r99;EG665376;Vmn2r99", "protein_name": "", "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": "H3BK37", "url": "https://www.uniprot.org/uniprotkb/H3BK37" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "H3BK37", "url": "https://www.uniprot.org/uniprotkb/H3BK37" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "H3BK37-1" }, { "uniprot_canonical_ac": "Q5NC48-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5NC48", "url": "https://www.uniprot.org/uniprotkb/Q5NC48" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 229, "chemical_mass": 24880.0, "gene_names": "Gm12253;Gm12253;Gm248", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q5NC48", "url": "https://www.uniprot.org/uniprotkb/Q5NC48" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5NC48-1" }, { "uniprot_canonical_ac": "A0A075B5Y2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B5Y2", "url": "https://www.uniprot.org/uniprotkb/A0A075B5Y2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 117, "chemical_mass": 12957.0, "gene_names": "Ighv1-75", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5Y2", "url": "https://www.uniprot.org/uniprotkb/A0A075B5Y2" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5Y2", "url": "https://www.uniprot.org/uniprotkb/A0A075B5Y2" } ], "pmid": "" } ], "molecular_function": [ { "name": "antigen binding", "id": "GO:0003823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003823", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5Y2", "url": "https://www.uniprot.org/uniprotkb/A0A075B5Y2" } ], "pmid": "" } ], "biological_process": [ { "name": "immunoglobulin mediated immune response", "id": "GO:0016064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016064", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5Y2", "url": "https://www.uniprot.org/uniprotkb/A0A075B5Y2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B5Y2-1" }, { "uniprot_canonical_ac": "A0A075B6A6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B6A6", "url": "https://www.uniprot.org/uniprotkb/A0A075B6A6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 116, "chemical_mass": 12872.0, "gene_names": "Trav6n-7", "protein_name": "", "disease": [], "cellular_component": [ { "name": "T cell receptor complex", "id": "GO:0042101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042101", "evidence": [ { "database": "UniProtKB", "id": "A0A075B6A6", "url": "https://www.uniprot.org/uniprotkb/A0A075B6A6" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A075B6A6", "url": "https://www.uniprot.org/uniprotkb/A0A075B6A6" } ], "pmid": "" } ], "biological_process": [ { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A075B6A6", "url": "https://www.uniprot.org/uniprotkb/A0A075B6A6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A075B6A6-1" }, { "uniprot_canonical_ac": "A0A087WNW4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A087WNW4", "url": "https://www.uniprot.org/uniprotkb/A0A087WNW4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 188, "chemical_mass": 21909.0, "gene_names": "Gm29554", "protein_name": "", "disease": [ { "disease_id": "DOID:0070176", "name": "spermatogenic failure 4", "description": "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23.", "url": "https://disease-ontology.org/term/DOID:0070176", "evidence": [ { "id": "0070176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070176" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A087WNW4", "url": "https://www.uniprot.org/uniprotkb/A0A087WNW4" } ], "pmid": "" }, { "name": "synaptonemal complex", "id": "GO:0000795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000795", "evidence": [ { "database": "UniProtKB", "id": "A0A087WNW4", "url": "https://www.uniprot.org/uniprotkb/A0A087WNW4" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "A0A087WNW4", "url": "https://www.uniprot.org/uniprotkb/A0A087WNW4" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "A0A087WNW4", "url": "https://www.uniprot.org/uniprotkb/A0A087WNW4" } ], "pmid": "" }, { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "A0A087WNW4", "url": "https://www.uniprot.org/uniprotkb/A0A087WNW4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A087WNW4-1" }, { "uniprot_canonical_ac": "A0A087WR18-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A087WR18", "url": "https://www.uniprot.org/uniprotkb/A0A087WR18" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 182, "chemical_mass": 20614.0, "gene_names": "Gm13276;Gm13276;If1ha5", "protein_name": "", "disease": [], "biological_process": [ { "name": "B cell activation involved in immune response", "id": "GO:0002312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002312", "evidence": [ { "database": "UniProtKB", "id": "A0A087WR18", "url": "https://www.uniprot.org/uniprotkb/A0A087WR18" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "A0A087WR18", "url": "https://www.uniprot.org/uniprotkb/A0A087WR18" } ], "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": "A0A087WR18", "url": "https://www.uniprot.org/uniprotkb/A0A087WR18" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A087WR18", "url": "https://www.uniprot.org/uniprotkb/A0A087WR18" } ], "pmid": "" }, { "name": "response to exogenous dsRNA", "id": "GO:0043330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043330", "evidence": [ { "database": "UniProtKB", "id": "A0A087WR18", "url": "https://www.uniprot.org/uniprotkb/A0A087WR18" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "A0A087WR18", "url": "https://www.uniprot.org/uniprotkb/A0A087WR18" } ], "pmid": "" }, { "name": "T cell activation involved in immune response", "id": "GO:0002286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002286", "evidence": [ { "database": "UniProtKB", "id": "A0A087WR18", "url": "https://www.uniprot.org/uniprotkb/A0A087WR18" } ], "pmid": "" }, { "name": "natural killer cell activation involved in immune response", "id": "GO:0002323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002323", "evidence": [ { "database": "UniProtKB", "id": "A0A087WR18", "url": "https://www.uniprot.org/uniprotkb/A0A087WR18" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A087WR18", "url": "https://www.uniprot.org/uniprotkb/A0A087WR18" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "A0A087WR18", "url": "https://www.uniprot.org/uniprotkb/A0A087WR18" } ], "pmid": "" }, { "name": "type I interferon receptor binding", "id": "GO:0005132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005132", "evidence": [ { "database": "UniProtKB", "id": "A0A087WR18", "url": "https://www.uniprot.org/uniprotkb/A0A087WR18" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A087WR18-1" }, { "uniprot_canonical_ac": "A0A0A6YVP1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YVP1", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YVP1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 15, "chemical_mass": 1740.0, "gene_names": "Trbj1-7", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0A6YVP1-1" }, { "uniprot_canonical_ac": "A0A0A6YX04-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YX04", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YX04" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 222, "chemical_mass": 25654.0, "gene_names": "Gm29866", "protein_name": "", "disease": [ { "disease_id": "DOID:0070176", "name": "spermatogenic failure 4", "description": "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23.", "url": "https://disease-ontology.org/term/DOID:0070176", "evidence": [ { "id": "0070176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070176" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YX04", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YX04" } ], "pmid": "" }, { "name": "synaptonemal complex", "id": "GO:0000795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000795", "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YX04", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YX04" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YX04", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YX04" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YX04", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YX04" } ], "pmid": "" }, { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YX04", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YX04" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0A6YX04-1" }, { "uniprot_canonical_ac": "A0A0G2LB96-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2LB96", "url": "https://www.uniprot.org/uniprotkb/A0A0G2LB96" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 114, "chemical_mass": 13078.0, "gene_names": "Trbv29;Trbv28", "protein_name": "", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2LB96", "url": "https://www.uniprot.org/uniprotkb/A0A0G2LB96" } ], "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": "A0A0G2LB96", "url": "https://www.uniprot.org/uniprotkb/A0A0G2LB96" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2LB96", "url": "https://www.uniprot.org/uniprotkb/A0A0G2LB96" } ], "pmid": "" } ], "molecular_function": [ { "name": "peptide antigen binding", "id": "GO:0042605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042605", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2LB96", "url": "https://www.uniprot.org/uniprotkb/A0A0G2LB96" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0G2LB96-1" }, { "uniprot_canonical_ac": "A0A0N4SVU1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0N4SVU1", "url": "https://www.uniprot.org/uniprotkb/A0A0N4SVU1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1476, "chemical_mass": 165287.0, "gene_names": "Mug5;Gm7298", "protein_name": "", "disease": [], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "A0A0N4SVU1", "url": "https://www.uniprot.org/uniprotkb/A0A0N4SVU1" } ], "pmid": "" }, { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "A0A0N4SVU1", "url": "https://www.uniprot.org/uniprotkb/A0A0N4SVU1" } ], "pmid": "" }, { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "A0A0N4SVU1", "url": "https://www.uniprot.org/uniprotkb/A0A0N4SVU1" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A0N4SVU1", "url": "https://www.uniprot.org/uniprotkb/A0A0N4SVU1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0N4SVU1-1" }, { "uniprot_canonical_ac": "A0A1L1SR87-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A1L1SR87", "url": "https://www.uniprot.org/uniprotkb/A0A1L1SR87" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 51, "chemical_mass": 5761.0, "gene_names": "Smim38;1810010D01Rik;Gm2572;Smim38", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1L1SR87-1" }, { "uniprot_canonical_ac": "A2A4M2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2A4M2", "url": "https://www.uniprot.org/uniprotkb/A2A4M2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 211, "chemical_mass": 22187.0, "gene_names": "Krtap9-21;Gm11568;Krtap9-21", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2A4M2", "url": "https://www.uniprot.org/uniprotkb/A2A4M2" } ], "pmid": "" }, { "name": "keratin filament", "id": "GO:0045095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045095", "evidence": [ { "database": "UniProtKB", "id": "A2A4M2", "url": "https://www.uniprot.org/uniprotkb/A2A4M2" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "A2A4M2", "url": "https://www.uniprot.org/uniprotkb/A2A4M2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A2A4M2-1" }, { "uniprot_canonical_ac": "A2AFR2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AFR2", "url": "https://www.uniprot.org/uniprotkb/A2AFR2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 126, "chemical_mass": 15683.0, "gene_names": "4930447F04Rik", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A2AFR2-1" }, { "uniprot_canonical_ac": "E0CXS8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E0CXS8", "url": "https://www.uniprot.org/uniprotkb/E0CXS8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 587, "chemical_mass": 66009.0, "gene_names": "Gm8113", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E0CXS8-1" }, { "uniprot_canonical_ac": "E9PXN1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PXN1", "url": "https://www.uniprot.org/uniprotkb/E9PXN1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 296, "chemical_mass": 31170.0, "gene_names": "Prb1b;MP5;Prb1b;Prpmp5", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "E9PXN1", "url": "https://www.uniprot.org/uniprotkb/E9PXN1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PXN1-1" }, { "uniprot_canonical_ac": "F6TEE5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "F6TEE5", "url": "https://www.uniprot.org/uniprotkb/F6TEE5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 83, "chemical_mass": 8805.0, "gene_names": "Gm10135", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F6TEE5-1" }, { "uniprot_canonical_ac": "F7AMQ8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "F7AMQ8", "url": "https://www.uniprot.org/uniprotkb/F7AMQ8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 149, "chemical_mass": 17327.0, "gene_names": "Esp8;Esp8;Gm17495", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "F7AMQ8", "url": "https://www.uniprot.org/uniprotkb/F7AMQ8" } ], "pmid": "" } ], "molecular_function": [ { "name": "pheromone activity", "id": "GO:0005186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005186", "evidence": [ { "database": "UniProtKB", "id": "F7AMQ8", "url": "https://www.uniprot.org/uniprotkb/F7AMQ8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F7AMQ8-1" }, { "uniprot_canonical_ac": "F7D8Y4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "F7D8Y4", "url": "https://www.uniprot.org/uniprotkb/F7D8Y4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 211, "chemical_mass": 25452.0, "gene_names": "Gm17079;Gm17079", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F7D8Y4-1" }, { "uniprot_canonical_ac": "F8VQD3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "F8VQD3", "url": "https://www.uniprot.org/uniprotkb/F8VQD3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 802, "chemical_mass": 92193.0, "gene_names": "Vmn2r37;V2r14;Vmn2r37", "protein_name": "", "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": "F8VQD3", "url": "https://www.uniprot.org/uniprotkb/F8VQD3" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "F8VQD3", "url": "https://www.uniprot.org/uniprotkb/F8VQD3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F8VQD3-1" }, { "uniprot_canonical_ac": "K7N6G6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "K7N6G6", "url": "https://www.uniprot.org/uniprotkb/K7N6G6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 218, "chemical_mass": 25815.0, "gene_names": "Gm16440;Gm16440", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "K7N6G6-1" }, { "uniprot_canonical_ac": "L7N1X2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "L7N1X2", "url": "https://www.uniprot.org/uniprotkb/L7N1X2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 831, "chemical_mass": 94142.0, "gene_names": "Vmn2r13;EG231589;Gm4867;Vmn2r13", "protein_name": "", "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": "L7N1X2", "url": "https://www.uniprot.org/uniprotkb/L7N1X2" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "L7N1X2", "url": "https://www.uniprot.org/uniprotkb/L7N1X2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "L7N1X2-1" }, { "uniprot_canonical_ac": "Q5NC41-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5NC41", "url": "https://www.uniprot.org/uniprotkb/Q5NC41" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 235, "chemical_mass": 24761.0, "gene_names": "1810065E05Rik;1810065E05Rik", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q5NC41", "url": "https://www.uniprot.org/uniprotkb/Q5NC41" } ], "pmid": "" } ], "biological_process": [ { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q5NC41", "url": "https://www.uniprot.org/uniprotkb/Q5NC41" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5NC41-1", "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" } ] } ] } ], "record_id": "Q5NC41-1" }, { "uniprot_canonical_ac": "A0A0N4SUS7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0N4SUS7", "url": "https://www.uniprot.org/uniprotkb/A0A0N4SUS7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 141, "chemical_mass": 14880.0, "gene_names": "Gm35549;Gm35549", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0N4SUS7-1" }, { "uniprot_canonical_ac": "B1B0R1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1B0R1", "url": "https://www.uniprot.org/uniprotkb/B1B0R1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 212, "chemical_mass": 24596.0, "gene_names": "Gm2012;100039030;Gm2012", "protein_name": "", "disease": [ { "disease_id": "DOID:0070176", "name": "spermatogenic failure 4", "description": "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23.", "url": "https://disease-ontology.org/term/DOID:0070176", "evidence": [ { "id": "0070176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070176" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B1B0R1", "url": "https://www.uniprot.org/uniprotkb/B1B0R1" } ], "pmid": "" }, { "name": "synaptonemal complex", "id": "GO:0000795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000795", "evidence": [ { "database": "UniProtKB", "id": "B1B0R1", "url": "https://www.uniprot.org/uniprotkb/B1B0R1" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "B1B0R1", "url": "https://www.uniprot.org/uniprotkb/B1B0R1" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "B1B0R1", "url": "https://www.uniprot.org/uniprotkb/B1B0R1" } ], "pmid": "" }, { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "B1B0R1", "url": "https://www.uniprot.org/uniprotkb/B1B0R1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B1B0R1-1" }, { "uniprot_canonical_ac": "E1AZ71-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1325, "chemical_mass": 148716.0, "gene_names": "Cngb1;CNG-4;CNG4;Cngb1b;Cngb1;Garp2;Gm1959", "protein_name": "Cyclic nucleotide-gated channel beta-1", "disease": [ { "disease_id": "DOID:0110402", "name": "retinitis pigmentosa 45", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13.", "url": "https://disease-ontology.org/term/DOID:0110402", "evidence": [ { "id": "0110402", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110402" } ], "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": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "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": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "sodium channel activity", "id": "GO:0005272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005272", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "intracellularly cAMP-activated cation channel activity", "id": "GO:0005222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005222", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "cAMP binding", "id": "GO:0030552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030552", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "cGMP binding", "id": "GO:0030553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030553", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "cyclic nucleotide-activated monoatomic ion channel activity", "id": "GO:0043855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043855", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "intracellularly cyclic nucleotide-activated monoatomic cation channel activity", "id": "GO:0005221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005221", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "intracellular cyclic nucleotide activated cation channel complex", "id": "GO:0017071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017071", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "transmembrane transporter complex", "id": "GO:1902495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902495", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "rod photoreceptor outer segment", "id": "GO:0120200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120200", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "non-motile cilium membrane", "id": "GO:0098804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098804", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "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": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "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": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "membrane depolarization", "id": "GO:0051899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051899", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "monoatomic cation transmembrane transport", "id": "GO:0098655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098655", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "retina homeostasis", "id": "GO:0001895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001895", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "monoatomic cation transport", "id": "GO:0006812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006812", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "photoreceptor cell outer segment organization", "id": "GO:0035845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035845", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "phototransduction", "id": "GO:0007602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007602", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "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": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "response to odorant", "id": "GO:1990834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990834", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" }, { "name": "olfactory nerve maturation", "id": "GO:0021630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021630", "evidence": [ { "database": "UniProtKB", "id": "E1AZ71", "url": "https://www.uniprot.org/uniprotkb/E1AZ71" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E1AZ71-1" }, { "uniprot_canonical_ac": "A2AIR5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1135, "chemical_mass": 127542.0, "gene_names": "Grin3a;6430537F04;A830097C19Rik;GluN3A;Grin3a;Kiaa1973;NMDAR-L;NMDAR3A;NR3A;mKIAA1973", "protein_name": "Glutamate receptor ionotropic, NMDA 3A", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "NMDA selective glutamate receptor complex", "id": "GO:0017146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017146", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "monoatomic ion channel complex", "id": "GO:0034702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034702", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "neurotransmitter receptor complex", "id": "GO:0098878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098878", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmitter-gated monoatomic ion channel activity", "id": "GO:0022824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022824", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "protein phosphatase 2A binding", "id": "GO:0051721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051721", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "glutamate-gated receptor activity", "id": "GO:0004970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004970", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "glycine binding", "id": "GO:0016594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016594", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "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": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "glutamate receptor activity", "id": "GO:0008066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008066", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "serine binding", "id": "GO:0070905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070905", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "NMDA glutamate receptor activity", "id": "GO:0004972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004972", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" } ], "biological_process": [ { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor signaling pathway", "id": "GO:0035235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035235", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "prepulse inhibition", "id": "GO:0060134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060134", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "monoatomic cation transmembrane transport", "id": "GO:0098655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098655", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "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": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "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": "A2AIR5", "url": "https://www.uniprot.org/uniprotkb/A2AIR5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2AIR5-1", "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": "A2AIR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AIR5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AIR5-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Asn264", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 264, "start_aa": "Asn", "end_pos": 264, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn264", "evidence": [ { "id": "A2AIR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AIR5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AIR5-1", "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": "A2AIR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AIR5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AIR5-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Asn285", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 285, "start_aa": "Asn", "end_pos": 285, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn285", "evidence": [ { "id": "A2AIR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AIR5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AIR5-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Asn296", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G40379SA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FHLESIINITANLSSTK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "A2AIR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AIR5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AIR5-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Asn300", "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": "FHLESIINITANLSSTK", "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": "A2AIR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AIR5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AIR5-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Asn320", "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": "NSTPTMVMFGCDMGSIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 320, "start_aa": "Asn", "end_pos": 320, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn320", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 320, "start_aa": "Asn", "end_pos": 320, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn320", "evidence": [ { "id": "A2AIR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AIR5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AIR5-1", "start_pos": "426", "end_pos": "426", "site_lbl": "Asn426", "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": 426, "start_aa": "Asn", "end_pos": 426, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn426", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2354", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2354" } ] }, { "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": 426, "start_aa": "Asn", "end_pos": 426, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn426", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2354", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2354" } ] }, { "glytoucan_ac": "G72747WU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TTNLTSGQYLSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 426, "start_aa": "Asn", "end_pos": 426, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn426", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 426, "start_aa": "Asn", "end_pos": 426, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn426", "evidence": [ { "id": "A2AIR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AIR5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AIR5-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Asn439", "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": "FLANTTFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 439, "start_aa": "Asn", "end_pos": 439, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn439", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 439, "start_aa": "Asn", "end_pos": 439, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn439", "evidence": [ { "id": "A2AIR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AIR5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AIR5-1", "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": "A2AIR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AIR5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AIR5-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Asn565", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "A2AIR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AIR5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AIR5-1", "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": "A2AIR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AIR5#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIS->IIS).", "chr_id": "4", "chr_pos": "49702828", "evidence": [ { "id": "rs3388685535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388685535" } ] } ] }, { "uniprot_canonical_ac": "A2AIR5-1", "start_pos": "551", "end_pos": "551", "site_lbl": "Ser551", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDS->NDF).", "chr_id": "4", "chr_pos": "49771119", "evidence": [ { "id": "rs3388664318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388664318" } ] } ] } ], "record_id": "A2AIR5-1" }, { "uniprot_canonical_ac": "A2AWR3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AWR3", "url": "https://www.uniprot.org/uniprotkb/A2AWR3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 868, "chemical_mass": 96347.0, "gene_names": "Gpr155;1110017O10Rik;DEPDC3;F730029F15Rik;Gpr155;LYCHOS;PGR22", "protein_name": "Lysosomal cholesterol signaling protein", "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": "A2AWR3", "url": "https://www.uniprot.org/uniprotkb/A2AWR3" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "A2AWR3", "url": "https://www.uniprot.org/uniprotkb/A2AWR3" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "A2AWR3", "url": "https://www.uniprot.org/uniprotkb/A2AWR3" } ], "pmid": "" }, { "name": "cellular response to cholesterol", "id": "GO:0071397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071397", "evidence": [ { "database": "UniProtKB", "id": "A2AWR3", "url": "https://www.uniprot.org/uniprotkb/A2AWR3" } ], "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": "A2AWR3", "url": "https://www.uniprot.org/uniprotkb/A2AWR3" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "A2AWR3", "url": "https://www.uniprot.org/uniprotkb/A2AWR3" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "A2AWR3", "url": "https://www.uniprot.org/uniprotkb/A2AWR3" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "A2AWR3", "url": "https://www.uniprot.org/uniprotkb/A2AWR3" } ], "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": "A2AWR3", "url": "https://www.uniprot.org/uniprotkb/A2AWR3" } ], "pmid": "" }, { "name": "protein-containing complex localization", "id": "GO:0031503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031503", "evidence": [ { "database": "UniProtKB", "id": "A2AWR3", "url": "https://www.uniprot.org/uniprotkb/A2AWR3" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "A2AWR3", "url": "https://www.uniprot.org/uniprotkb/A2AWR3" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "A2AWR3", "url": "https://www.uniprot.org/uniprotkb/A2AWR3" } ], "pmid": "" }, { "name": "positive regulation of translational initiation", "id": "GO:0045948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045948", "evidence": [ { "database": "UniProtKB", "id": "A2AWR3", "url": "https://www.uniprot.org/uniprotkb/A2AWR3" } ], "pmid": "" }, { "name": "protein localization to lysosome", "id": "GO:0061462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061462", "evidence": [ { "database": "UniProtKB", "id": "A2AWR3", "url": "https://www.uniprot.org/uniprotkb/A2AWR3" } ], "pmid": "" } ], "cellular_component": [ { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "A2AWR3", "url": "https://www.uniprot.org/uniprotkb/A2AWR3" } ], "pmid": "" } ], "molecular_function": [ { "name": "cholesterol binding", "id": "GO:0015485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015485", "evidence": [ { "database": "UniProtKB", "id": "A2AWR3", "url": "https://www.uniprot.org/uniprotkb/A2AWR3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2AWR3-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Asn17", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 17, "start_aa": "Asn", "end_pos": 17, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn17", "evidence": [ { "id": "A2AWR3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AWR3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AWR3-1", "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": "A2AWR3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AWR3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AWR3-1", "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": "A2AWR3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AWR3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AWR3-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Asn379", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 379, "start_aa": "Asn", "end_pos": 379, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn379", "evidence": [ { "id": "A2AWR3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AWR3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AWR3-1", "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": "A2AWR3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2AWR3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2AWR3-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Thr29", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAT->NAA).", "chr_id": "2", "chr_pos": "73192772", "evidence": [ { "id": "rs239063072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239063072" } ] } ] } ], "record_id": "A2AWR3-1" }, { "uniprot_canonical_ac": "A2ARV7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2ARV7", "url": "https://www.uniprot.org/uniprotkb/A2ARV7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 303, "chemical_mass": 34983.0, "gene_names": "Gm14401", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A2ARV7", "url": "https://www.uniprot.org/uniprotkb/A2ARV7" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A2ARV7", "url": "https://www.uniprot.org/uniprotkb/A2ARV7" } ], "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": "A2ARV7", "url": "https://www.uniprot.org/uniprotkb/A2ARV7" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A2ARV7", "url": "https://www.uniprot.org/uniprotkb/A2ARV7" } ], "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": "A2ARV7", "url": "https://www.uniprot.org/uniprotkb/A2ARV7" } ], "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": "A2ARV7", "url": "https://www.uniprot.org/uniprotkb/A2ARV7" } ], "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": "A2ARV7", "url": "https://www.uniprot.org/uniprotkb/A2ARV7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A2ARV7-1" }, { "uniprot_canonical_ac": "F6YK91-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "F6YK91", "url": "https://www.uniprot.org/uniprotkb/F6YK91" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 364, "chemical_mass": 38373.0, "gene_names": "Ankrd65;Ankrd65;E230028L10Rik;Gm439;Gm45", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F6YK91-1" }, { "uniprot_canonical_ac": "A0A0J9YTU8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0J9YTU8", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YTU8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 78, "chemical_mass": 8782.0, "gene_names": "Litafd;EG436336;Gm43786;Gm5767;Litafd", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A0J9YTU8", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YTU8" } ], "pmid": "" }, { "name": "cytoplasmic side of lysosomal membrane", "id": "GO:0098574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098574", "evidence": [ { "database": "UniProtKB", "id": "A0A0J9YTU8", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YTU8" } ], "pmid": "" }, { "name": "cytoplasmic side of late endosome membrane", "id": "GO:0098560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098560", "evidence": [ { "database": "UniProtKB", "id": "A0A0J9YTU8", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YTU8" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A0J9YTU8", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YTU8" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of cytokine production", "id": "GO:0001817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001817", "evidence": [ { "database": "UniProtKB", "id": "A0A0J9YTU8", "url": "https://www.uniprot.org/uniprotkb/A0A0J9YTU8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0J9YTU8-1" }, { "uniprot_canonical_ac": "E9PUZ9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PUZ9", "url": "https://www.uniprot.org/uniprotkb/E9PUZ9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1014, "chemical_mass": 114066.0, "gene_names": "Pdzrn4;1110017D07Rik;LNX4;Pdzrn4;SAMCAP3L;mKIAA3027", "protein_name": "", "disease": [], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E9PUZ9", "url": "https://www.uniprot.org/uniprotkb/E9PUZ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PUZ9-1" }, { "uniprot_canonical_ac": "Q60680-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 745, "chemical_mass": 84729.0, "gene_names": "Chuk;Ikka", "protein_name": "Inhibitor of nuclear factor kappa-B kinase subunit alpha", "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:0060647", "name": "fetal encasement syndrome", "description": "A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin.", "url": "https://disease-ontology.org/term/DOID:0060647", "evidence": [ { "id": "0060647", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060647" } ], "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: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: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: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": "osteoclast differentiation", "id": "GO:0030316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030316", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "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": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "response to cholecystokinin", "id": "GO:0061847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061847", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "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": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "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": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "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": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "response to muscle stretch", "id": "GO:0035994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035994", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "mammary gland alveolus development", "id": "GO:0060749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060749", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "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": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "non-canonical NF-kappaB signal transduction", "id": "GO:0038061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038061", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "striated muscle cell differentiation", "id": "GO:0051146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051146", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "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": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "I-kappaB phosphorylation", "id": "GO:0007252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007252", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "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": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "mammary gland epithelial cell proliferation", "id": "GO:0033598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033598", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "morphogenesis of an epithelial sheet", "id": "GO:0002011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002011", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "skeletal muscle contraction", "id": "GO:0003009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003009", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "response to amino acid", "id": "GO:0043200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043200", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "response to hydroperoxide", "id": "GO:0033194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033194", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "response to acetate", "id": "GO:0010034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010034", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" } ], "molecular_function": [ { "name": "IkappaB kinase activity", "id": "GO:0008384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008384", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "transferrin receptor binding", "id": "GO:1990459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990459", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "IkappaB kinase complex", "id": "GO:0008385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008385", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "CD40 receptor complex", "id": "GO:0035631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035631", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60680-1", "start_pos": "733", "end_pos": "733", "site_lbl": "Ser733", "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": "S", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 733, "start_aa": "Ser", "end_pos": 733, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser733", "evidence": [ { "id": "19202066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19202066" }, { "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": "Q60680-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Ser176", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" }, { "database": "PRO", "id": "Q60680", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q60680" }, { "database": "iPTMnet", "id": "Q60680", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60680" }, { "database": "PubMed", "id": "16751795", "url": "https://glygen.org/publication/PubMed/16751795" } ] } ] }, { "uniprot_canonical_ac": "Q60680-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Ser180", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" }, { "database": "PRO", "id": "Q60680", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q60680" }, { "database": "iPTMnet", "id": "Q60680", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60680" }, { "database": "PubMed", "id": "16751795", "url": "https://glygen.org/publication/PubMed/16751795" } ] } ] }, { "uniprot_canonical_ac": "Q60680-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Thr23", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60680", "url": "https://www.uniprot.org/uniprotkb/Q60680" } ] } ] }, { "uniprot_canonical_ac": "Q60680-1", "start_pos": "715", "end_pos": "715", "site_lbl": "Asn715", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLN->NLT).", "chr_id": "19", "chr_pos": "44063934", "evidence": [ { "id": "rs3554568185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3554568185" } ] } ] } ], "record_id": "Q60680-1" }, { "uniprot_canonical_ac": "Q8K012-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 605, "chemical_mass": 69885.0, "gene_names": "Fnbp1l;Toca1", "protein_name": "Formin-binding protein 1-like", "disease": [], "biological_process": [ { "name": "membrane invagination", "id": "GO:0010324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010324", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" }, { "name": "vesicle budding from membrane", "id": "GO:0006900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006900", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" }, { "name": "clathrin-dependent endocytosis", "id": "GO:0072583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072583", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" }, { "name": "vesicle organization", "id": "GO:0016050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016050", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" }, { "name": "vesicle transport along actin filament", "id": "GO:0030050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030050", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" }, { "name": "plasma membrane tubulation", "id": "GO:0097320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097320", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" }, { "name": "GTPase binding", "id": "GO:0051020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051020", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K012-1", "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": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "Q8K012", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K012" } ] } ] }, { "uniprot_canonical_ac": "Q8K012-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Ser295", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" }, { "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": "Q8K012", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K012" } ] } ] }, { "uniprot_canonical_ac": "Q8K012-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Ser488", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K012", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K012" } ] } ] }, { "uniprot_canonical_ac": "Q8K012-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Ser501", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PRO", "id": "Q8K012", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q8K012" }, { "database": "iPTMnet", "id": "Q8K012", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K012" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] }, { "uniprot_canonical_ac": "Q8K012-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Ser505", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K012", "url": "https://www.uniprot.org/uniprotkb/Q8K012" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K012", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K012" } ] } ] } ], "record_id": "Q8K012-1" }, { "uniprot_canonical_ac": "Q80T41-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 940, "chemical_mass": 105666.0, "gene_names": "Gabbr2;GABABR2;Gabbr2;Gb2;Gm425;Gpr51", "protein_name": "Gamma-aminobutyric acid type B receptor subunit 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:0080291", "name": "developmental and epileptic encephalopathy 59", "description": "A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22.", "url": "https://disease-ontology.org/term/DOID:0080291", "evidence": [ { "id": "0080291", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080291" } ], "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": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" } ], "pmid": "" }, { "name": "GABA receptor complex", "id": "GO:1902710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902710", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" } ], "pmid": "" }, { "name": "G protein-coupled receptor heterodimeric complex", "id": "GO:0038039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038039", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" } ], "pmid": "" }, { "name": "G protein-coupled GABA receptor complex", "id": "GO:1902712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902712", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" } ], "pmid": "" } ], "biological_process": [ { "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": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid signaling pathway", "id": "GO:0007214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007214", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" } ], "pmid": "" }, { "name": "synaptic transmission, GABAergic", "id": "GO:0051932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051932", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" } ], "pmid": "" }, { "name": "neuron-glial cell signaling", "id": "GO:0150099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150099", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" } ], "pmid": "" }, { "name": "G protein-coupled GABA receptor activity", "id": "GO:0004965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004965", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80T41-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Asn297", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 297, "start_aa": "Asn", "end_pos": 297, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn297", "evidence": [ { "id": "Q80T41", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T41#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T41-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Asn388", "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": 388, "start_aa": "Asn", "end_pos": 388, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn388", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2329", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2329" } ] }, { "glytoucan_ac": "G27058EU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IQDFNYTDHTLGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 388, "start_aa": "Asn", "end_pos": 388, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn388", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 388, "start_aa": "Asn", "end_pos": 388, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn388", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2329", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2329" } ] }, { "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": 388, "start_aa": "Asn", "end_pos": 388, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn388", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2329", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2329" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 388, "start_aa": "Asn", "end_pos": 388, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn388", "evidence": [ { "id": "Q80T41", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T41#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T41-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Asn403", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G07717JX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IILNAMNETNFFGVTGQVVFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 403, "start_aa": "Asn", "end_pos": 403, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn403", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 403, "start_aa": "Asn", "end_pos": 403, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn403", "evidence": [ { "id": "Q80T41", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T41#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T41-1", "start_pos": "452", "end_pos": "452", "site_lbl": "Asn452", "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": "VGEYNAVADTLEIINDTIR", "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": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 452, "start_aa": "Asn", "end_pos": 452, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn452", "evidence": [ { "id": "Q80T41", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T41#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T41-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Asn89", "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": "NESLLRPYFLDLR", "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": {}, "start_pos": 89, "start_aa": "Asn", "end_pos": 89, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "evidence": [ { "id": "Q80T41", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80T41#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80T41-1", "start_pos": "921", "end_pos": "921", "site_lbl": "Thr921", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 921, "start_aa": "Thr", "end_pos": 921, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr921", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80T41-1", "start_pos": "775", "end_pos": "775", "site_lbl": "Ser775", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80T41", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80T41" } ] } ] }, { "uniprot_canonical_ac": "Q80T41-1", "start_pos": "778", "end_pos": "778", "site_lbl": "Ser778", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80T41", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80T41" } ] } ] }, { "uniprot_canonical_ac": "Q80T41-1", "start_pos": "818", "end_pos": "818", "site_lbl": "Thr818", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80T41", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80T41" } ] } ] }, { "uniprot_canonical_ac": "Q80T41-1", "start_pos": "883", "end_pos": "883", "site_lbl": "Ser883", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" }, { "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": "Q80T41", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80T41" } ] } ] }, { "uniprot_canonical_ac": "Q80T41-1", "start_pos": "892", "end_pos": "892", "site_lbl": "Ser892", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80T41", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80T41" } ] } ] }, { "uniprot_canonical_ac": "Q80T41-1", "start_pos": "912", "end_pos": "912", "site_lbl": "Ser912", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80T41", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80T41" } ] } ] }, { "uniprot_canonical_ac": "Q80T41-1", "start_pos": "915", "end_pos": "915", "site_lbl": "Ser915", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80T41", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80T41" } ] } ] }, { "uniprot_canonical_ac": "Q80T41-1", "start_pos": "919", "end_pos": "919", "site_lbl": "Ser919", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80T41", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80T41" } ] } ] }, { "uniprot_canonical_ac": "Q80T41-1", "start_pos": "923", "end_pos": "923", "site_lbl": "Ser923", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80T41", "url": "https://www.uniprot.org/uniprotkb/Q80T41" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80T41", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80T41" } ] } ] } ], "record_id": "Q80T41-1" }, { "uniprot_canonical_ac": "Q8CG73-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1264, "chemical_mass": 145000.0, "gene_names": "Rpgrip1l;1700047E16Rik;4931437C01;Ftm;Nphp8;Rpgrip1l", "protein_name": "Protein fantom", "disease": [ { "disease_id": "DOID:0050753", "name": "cerebellar ataxia", "description": "A hereditary ataxia that is characterized by ataxia originating in the cerebellum.", "url": "https://disease-ontology.org/term/DOID:0050753", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ], "weight": 0.0 }, { "disease_id": "DOID:0050778", "name": "Meckel syndrome", "description": "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.", "url": "https://disease-ontology.org/term/DOID:0050778", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ], "weight": 0.0 }, { "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: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 }, { "disease_id": "DOID:0070119", "name": "Meckel syndrome 5", "description": "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2.", "url": "https://disease-ontology.org/term/DOID:0070119", "evidence": [ { "id": "0070119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070119" } ], "weight": 0.0 }, { "disease_id": "DOID:0110414", "name": "retinitis pigmentosa 3", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0110414", "evidence": [ { "id": "0110414", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110414" } ], "weight": 0.0 }, { "disease_id": "DOID:0111002", "name": "Joubert syndrome 7", "description": "A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2.", "url": "https://disease-ontology.org/term/DOID:0111002", "evidence": [ { "id": "0111002", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111002" } ], "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: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:2975", "name": "cystic kidney disease", "description": "A kidney disease that is characterized by the formation of cysts (fluid-filled sacs) in and around the kidney.", "url": "https://disease-ontology.org/term/DOID:2975", "evidence": [ { "id": "2975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2975" } ], "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 } ], "biological_process": [ { "name": "nose development", "id": "GO:0043584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043584", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "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": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "retinal rod cell development", "id": "GO:0046548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046548", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "regulation of smoothened signaling pathway", "id": "GO:0008589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008589", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "neural tube patterning", "id": "GO:0021532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021532", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "lateral ventricle development", "id": "GO:0021670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021670", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "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": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "limb morphogenesis", "id": "GO:0035108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035108", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "corpus callosum development", "id": "GO:0022038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022038", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "head development", "id": "GO:0060322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060322", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "telencephalon development", "id": "GO:0021537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021537", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "pericardium development", "id": "GO:0060039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060039", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "establishment of planar polarity", "id": "GO:0001736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001736", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "olfactory bulb development", "id": "GO:0021772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "ciliary rootlet", "id": "GO:0035253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035253", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "photoreceptor connecting cilium", "id": "GO:0032391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032391", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "axonemal microtubule", "id": "GO:0005879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005879", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" } ], "molecular_function": [ { "name": "thromboxane A2 receptor binding", "id": "GO:0031870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031870", "evidence": [ { "database": "UniProtKB", "id": "Q8CG73", "url": "https://www.uniprot.org/uniprotkb/Q8CG73" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8CG73-1" }, { "uniprot_canonical_ac": "P21803-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 821, "chemical_mass": 91984.0, "gene_names": "Fgfr2;Bek;Ect1;Fgfr-2;Fgfr-7;Fgfr2b;Fgfr2;Fgfr7;KGFRTr;KGFR;svs", "protein_name": "Fibroblast growth factor receptor 2", "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:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.", "url": "https://disease-ontology.org/term/DOID:0050331", "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ], "weight": 0.0 }, { "disease_id": "DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0050660", "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ], "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:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0060992", "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ], "weight": 0.0 }, { "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:0081289", "name": "Antley-Bixler syndrome", "description": "A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period.", "url": "https://disease-ontology.org/term/DOID:0081289", "evidence": [ { "id": "0081289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081289" } ], "weight": 0.0 }, { "disease_id": "DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome.", "url": "https://disease-ontology.org/term/DOID:0081290", "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ], "weight": 0.0 }, { "disease_id": "DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.", "url": "https://disease-ontology.org/term/DOID:0111337", "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ], "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: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: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: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: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: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: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: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: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: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:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14705", "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ], "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: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: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:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.", "url": "https://disease-ontology.org/term/DOID:2339", "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ], "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: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: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:4441", "name": "dysgerminoma", "description": "A germ cell cancer that derives_from cells that give rise to egg cells.", "url": "https://disease-ontology.org/term/DOID:4441", "evidence": [ { "id": "4441", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4441" } ], "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: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:7843", "name": "female breast carcinoma", "description": "A breast carcinoma that is manifested in the female breast.", "url": "https://disease-ontology.org/term/DOID:7843", "evidence": [ { "id": "7843", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7843" } ], "weight": 0.0 }, { "disease_id": "DOID:8445", "name": "intestinal volvulus", "description": "An intestinal obstruction characterized by abnormal rotation of the intestines.", "url": "https://disease-ontology.org/term/DOID:8445", "evidence": [ { "id": "8445", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8445" } ], "weight": 0.0 }, { "disease_id": "DOID:8632", "name": "Kaposi's sarcoma", "description": "A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (Rhadinovirus humangamma8).", "url": "https://disease-ontology.org/term/DOID:8632", "evidence": [ { "id": "8632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8632" } ], "weight": 0.0 } ], "biological_process": [ { "name": "coronal suture morphogenesis", "id": "GO:0060365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060365", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "branching morphogenesis of a nerve", "id": "GO:0048755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048755", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "regulation of epithelial cell proliferation", "id": "GO:0050678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050678", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "prostate epithelial cord elongation", "id": "GO:0060523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060523", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis", "id": "GO:0060527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060527", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "endodermal digestive tract morphogenesis", "id": "GO:0061031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061031", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "morphogenesis of embryonic epithelium", "id": "GO:0016331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016331", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "negative regulation of keratinocyte proliferation", "id": "GO:0010839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010839", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "regulation of osteoblast proliferation", "id": "GO:0033688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033688", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "organ growth", "id": "GO:0035265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035265", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "negative regulation of mitotic nuclear division", "id": "GO:0045839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045839", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "regulation of smoothened signaling pathway", "id": "GO:0008589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008589", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "positive regulation of phospholipase activity", "id": "GO:0010518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010518", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "pyramidal neuron development", "id": "GO:0021860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021860", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "hair follicle morphogenesis", "id": "GO:0031069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031069", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "orbitofrontal cortex development", "id": "GO:0021769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021769", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "limb bud formation", "id": "GO:0060174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060174", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "lens fiber cell development", "id": "GO:0070307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070307", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "gland morphogenesis", "id": "GO:0022612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022612", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "mesenchymal cell differentiation", "id": "GO:0048762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048762", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "membranous septum morphogenesis", "id": "GO:0003149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003149", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "regulation of smooth muscle cell differentiation", "id": "GO:0051150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051150", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell proliferation", "id": "GO:0060045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "branching involved in prostate gland morphogenesis", "id": "GO:0060442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060442", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "bud elongation involved in lung branching", "id": "GO:0060449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060449", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "ventricular cardiac muscle tissue morphogenesis", "id": "GO:0055010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055010", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "synaptic vesicle transport", "id": "GO:0048489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048489", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "lung-associated mesenchyme development", "id": "GO:0060484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060484", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "otic vesicle formation", "id": "GO:0030916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030916", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "ventricular zone neuroblast division", "id": "GO:0021847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021847", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "lacrimal gland development", "id": "GO:0032808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032808", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow cell", "id": "GO:0035602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035602", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway involved in hemopoiesis", "id": "GO:0035603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035603", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow", "id": "GO:0035604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035604", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development", "id": "GO:0035607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035607", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "embryonic digestive tract morphogenesis", "id": "GO:0048557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048557", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "embryonic organ morphogenesis", "id": "GO:0048562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048562", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "epidermis morphogenesis", "id": "GO:0048730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048730", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "lung lobe morphogenesis", "id": "GO:0060463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060463", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "prostate gland morphogenesis", "id": "GO:0060512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060512", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "squamous basal epithelial stem cell differentiation involved in prostate gland acinus development", "id": "GO:0060529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060529", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "lateral sprouting from an epithelium", "id": "GO:0060601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060601", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "mammary gland bud formation", "id": "GO:0060615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060615", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "epithelial cell proliferation involved in salivary gland morphogenesis", "id": "GO:0060664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060664", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "branch elongation involved in salivary gland morphogenesis", "id": "GO:0060667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060667", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "regulation of morphogenesis of a branching structure", "id": "GO:0060688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060688", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "mesenchymal cell differentiation involved in lung development", "id": "GO:0060915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060915", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor apoptotic signaling pathway", "id": "GO:1902178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902178", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "reproductive structure development", "id": "GO:0048608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048608", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "vasculogenesis involved in coronary vascular morphogenesis", "id": "GO:0060979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060979", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "cranial skeletal system development", "id": "GO:1904888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904888", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "biomineral tissue development", "id": "GO:0031214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031214", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "regulation of developmental growth", "id": "GO:0048638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048638", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "regulation of cell cycle process", "id": "GO:0010564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010564", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "chordate embryonic development", "id": "GO:0043009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043009", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "positive regulation of signaling", "id": "GO:0023056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023056", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "positive regulation of developmental process", "id": "GO:0051094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051094", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "positive regulation of cell communication", "id": "GO:0010647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010647", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "endochondral bone growth", "id": "GO:0003416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003416", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "mesodermal cell differentiation", "id": "GO:0048333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048333", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "respiratory system development", "id": "GO:0060541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060541", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" } ], "molecular_function": [ { "name": "fibroblast growth factor receptor activity", "id": "GO:0005007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005007", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "fibroblast growth factor binding", "id": "GO:0017134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017134", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "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": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "excitatory synapse", "id": "GO:0060076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060076", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P21803-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Asn123", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "E9PVU6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PVU6#ptm_processing" }, { "id": "PIRSR000628-4", "database": "PIR Site Rule", "url": "https://www.uniprot.org/unirule/PIRSR000628-4" }, { "id": "E9PX67", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PX67#ptm_processing" }, { "id": "E9Q7T0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q7T0#ptm_processing" }, { "id": "P21803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P21803#ptm_processing" }, { "id": "E9Q7E8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q7E8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Asn147", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "P21803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P21803#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Asn228", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "P21803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P21803#ptm_processing" }, { "id": "E9Q7E8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q7E8#ptm_processing" }, { "id": "PIRSR000628-4", "database": "PIR Site Rule", "url": "https://www.uniprot.org/unirule/PIRSR000628-4" }, { "id": "E9PX67", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PX67#ptm_processing" }, { "id": "E9PVU6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PVU6#ptm_processing" }, { "id": "E9Q7T0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q7T0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "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": "E9Q7E8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q7E8#ptm_processing" }, { "id": "PIRSR000628-4", "database": "PIR Site Rule", "url": "https://www.uniprot.org/unirule/PIRSR000628-4" }, { "id": "E9PVU6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PVU6#ptm_processing" }, { "id": "E9PX67", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PX67#ptm_processing" }, { "id": "E9Q7T0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q7T0#ptm_processing" }, { "id": "P21803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P21803#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Asn265", "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": "SPHRPILQAGLPANASTVVGGDVEFVCK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 265, "start_aa": "Asn", "end_pos": 265, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn265", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 265, "start_aa": "Asn", "end_pos": 265, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn265", "evidence": [ { "id": "E9PVU6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PVU6#ptm_processing" }, { "id": "PIRSR000628-4", "database": "PIR Site Rule", "url": "https://www.uniprot.org/unirule/PIRSR000628-4" }, { "id": "E9PX67", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PX67#ptm_processing" }, { "id": "E9Q7T0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q7T0#ptm_processing" }, { "id": "P21803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P21803#ptm_processing" }, { "id": "E9Q7E8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q7E8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Asn297", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 297, "start_aa": "Asn", "end_pos": 297, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn297", "evidence": [ { "id": "E9PX67", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PX67#ptm_processing" }, { "id": "PIRSR000628-4", "database": "PIR Site Rule", "url": "https://www.uniprot.org/unirule/PIRSR000628-4" }, { "id": "E9Q7T0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q7T0#ptm_processing" }, { "id": "P21803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P21803#ptm_processing" }, { "id": "E9PVU6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PVU6#ptm_processing" }, { "id": "E9Q7E8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q7E8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Asn318", "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": "AAGVNTTDKEIEVLYIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 318, "start_aa": "Asn", "end_pos": 318, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn318", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 318, "start_aa": "Asn", "end_pos": 318, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn318", "evidence": [ { "id": "E9PVU6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PVU6#ptm_processing" }, { "id": "PIRSR000628-4", "database": "PIR Site Rule", "url": "https://www.uniprot.org/unirule/PIRSR000628-4" }, { "id": "E9Q7E8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q7E8#ptm_processing" }, { "id": "P21803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P21803#ptm_processing" }, { "id": "E9PX67", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PX67#ptm_processing" }, { "id": "E9Q7T0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q7T0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Asn331", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 331, "start_aa": "Asn", "end_pos": 331, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn331", "evidence": [ { "id": "P21803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P21803#ptm_processing" }, { "id": "E9Q7T0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q7T0#ptm_processing" }, { "id": "PIRSR000628-4", "database": "PIR Site Rule", "url": "https://www.uniprot.org/unirule/PIRSR000628-4" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Asn83", "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": "DGVHLGPNNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 83, "start_aa": "Asn", "end_pos": 83, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 83, "start_aa": "Asn", "end_pos": 83, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "P21803", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P21803#ptm_processing" }, { "id": "E9Q7E8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q7E8#ptm_processing" }, { "id": "PIRSR000628-4", "database": "PIR Site Rule", "url": "https://www.uniprot.org/unirule/PIRSR000628-4" }, { "id": "E9PX67", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PX67#ptm_processing" }, { "id": "E9PVU6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PVU6#ptm_processing" }, { "id": "E9Q7T0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q7T0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Tyr466", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "586", "end_pos": "586", "site_lbl": "Tyr586", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "588", "end_pos": "588", "site_lbl": "Tyr588", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "656", "end_pos": "656", "site_lbl": "Tyr656", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "657", "end_pos": "657", "site_lbl": "Tyr657", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "769", "end_pos": "769", "site_lbl": "Tyr769", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes phosphorylation of FRS2 and activation of MAP kinases.", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" }, { "database": "PubMed", "id": "15629145", "url": "https://glygen.org/publication/PubMed/15629145" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "780", "end_pos": "780", "site_lbl": "Ser780", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P21803", "url": "https://www.uniprot.org/uniprotkb/P21803" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ser149", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NRS->NRR); glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129765791", "evidence": [ { "id": "rs3388951554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388951554" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Trp118", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129820835", "evidence": [ { "id": "rs3388957201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388957201" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Trp214", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129820835", "evidence": [ { "id": "rs3388957201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388957201" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Lys279", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129798089", "evidence": [ { "id": "rs3398647689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398647689" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Leu309", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129802726", "evidence": [ { "id": "rs3398777927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398777927" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Thr333", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129800236", "evidence": [ { "id": "rs3388925237", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388925237" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Lys367", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129798089", "evidence": [ { "id": "rs3398647689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398647689" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Ala461", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129773379", "evidence": [ { "id": "rs3388951149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388951149" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Ile547", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129774609", "evidence": [ { "id": "rs3388956025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388956025" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Ala553", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129774591_129774592insTCCACACTACCTCAACCATCAC", "evidence": [ { "id": "rs3388958363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388958363" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Ile563", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129774581", "evidence": [ { "id": "rs3388909987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388909987" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Glu565", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129765824", "evidence": [ { "id": "rs3388957252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388957252" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "628", "end_pos": "628", "site_lbl": "Ala628", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129769510", "evidence": [ { "id": "rs3388951320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388951320" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "644", "end_pos": "644", "site_lbl": "Asp644", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129769467", "evidence": [ { "id": "rs3388951383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388951383" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "661", "end_pos": "661", "site_lbl": "Thr661", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129765838", "evidence": [ { "id": "rs3388951499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388951499" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "684", "end_pos": "684", "site_lbl": "Ser684", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129765768", "evidence": [ { "id": "rs3388949376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388949376" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "734", "end_pos": "734", "site_lbl": "Met734", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129769527", "evidence": [ { "id": "rs3388951307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388951307" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "735", "end_pos": "735", "site_lbl": "Met735", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129769527", "evidence": [ { "id": "rs3388951307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388951307" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "787", "end_pos": "787", "site_lbl": "Ser787", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129765791", "evidence": [ { "id": "rs3388951554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388951554" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "789", "end_pos": "789", "site_lbl": "Ser789", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129765791", "evidence": [ { "id": "rs3388951554", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388951554" } ] } ] }, { "uniprot_canonical_ac": "P21803-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Pro99", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "7", "chr_pos": "129844188", "evidence": [ { "id": "rs3388956105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388956105" } ] } ] } ], "record_id": "P21803-1" }, { "uniprot_canonical_ac": "P81069-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P81069", "url": "https://www.uniprot.org/uniprotkb/P81069" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 414, "chemical_mass": 45658.0, "gene_names": "Gabpb2;1810015F01Rik;5830427M07;9430006E19Rik;A430024B14Rik;Gabpb2-1;Gabpb2", "protein_name": "GA-binding protein subunit beta-2", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P81069", "url": "https://www.uniprot.org/uniprotkb/P81069" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P81069", "url": "https://www.uniprot.org/uniprotkb/P81069" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P81069", "url": "https://www.uniprot.org/uniprotkb/P81069" } ], "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": "P81069", "url": "https://www.uniprot.org/uniprotkb/P81069" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P81069", "url": "https://www.uniprot.org/uniprotkb/P81069" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P81069", "url": "https://www.uniprot.org/uniprotkb/P81069" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P81069-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Ser218", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P81069", "url": "https://www.uniprot.org/uniprotkb/P81069" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P81069", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P81069" } ] } ] } ], "record_id": "P81069-1" }, { "uniprot_canonical_ac": "Q61089-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 709, "chemical_mass": 79082.0, "gene_names": "Fzd6;Fz6;Fzd6;rst", "protein_name": "Frizzled-6", "disease": [ { "disease_id": "DOID:0080079", "name": "nonsyndromic congenital nail disorder 1", "description": "A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance.", "url": "https://disease-ontology.org/term/DOID:0080079", "evidence": [ { "id": "0080079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080079" } ], "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": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "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": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "platelet activation", "id": "GO:0030168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030168", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "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": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "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": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "cell proliferation in midbrain", "id": "GO:0033278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033278", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "non-canonical Wnt signaling pathway", "id": "GO:0035567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035567", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "establishment of planar polarity", "id": "GO:0001736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001736", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "embryonic nail plate morphogenesis", "id": "GO:0035880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035880", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "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": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "Wnt-protein binding", "id": "GO:0017147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017147", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "Wnt receptor activity", "id": "GO:0042813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042813", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" }, { "name": "apicolateral plasma membrane", "id": "GO:0016327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016327", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61089-1", "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": "Q61089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61089#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61089-1", "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": "Q61089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61089#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61089-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Asn38", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q61089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61089#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61089-1", "start_pos": "656", "end_pos": "656", "site_lbl": "Ser656", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61089", "url": "https://www.uniprot.org/uniprotkb/Q61089" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61089", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61089" } ] } ] } ], "record_id": "Q61089-1" }, { "uniprot_canonical_ac": "Q8BY35-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 655, "chemical_mass": 74634.0, "gene_names": "Fgd2;Fgd2;Tcd-2;Tcd2;ZFYVE4;tcs-2;tcs2", "protein_name": "FYVE, RhoGEF and PH domain-containing protein 2", "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": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ], "pmid": "" }, { "name": "phosphatidylinositol phosphate binding", "id": "GO:1901981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901981", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ], "pmid": "" } ], "biological_process": [ { "name": "filopodium assembly", "id": "GO:0046847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046847", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ], "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": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BY35-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Ser10", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BY35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BY35" } ] } ] }, { "uniprot_canonical_ac": "Q8BY35-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Ser39", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BY35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BY35" } ] } ] }, { "uniprot_canonical_ac": "Q8BY35-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ser47", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BY35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BY35" } ] } ] }, { "uniprot_canonical_ac": "Q8BY35-1", "start_pos": "644", "end_pos": "644", "site_lbl": "Thr644", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BY35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BY35" } ] } ] }, { "uniprot_canonical_ac": "Q8BY35-1", "start_pos": "654", "end_pos": "654", "site_lbl": "Ser654", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BY35", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BY35" } ] } ] }, { "uniprot_canonical_ac": "Q8BY35-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Ser287", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on early endosome localization and reduced JNK1 activation; when associated with A-288.", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ] } ] }, { "uniprot_canonical_ac": "Q8BY35-1", "start_pos": "288", "end_pos": "288", "site_lbl": "Asn288", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "No effect on early endosome localization and reduced JNK1 activation; when associated with A-287.", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ] } ] }, { "uniprot_canonical_ac": "Q8BY35-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Gln454", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Loss of early endosome localization; when associated with T-455.", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ] } ] }, { "uniprot_canonical_ac": "Q8BY35-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Trp455", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "T", "comment": "Loss of early endosome localization; when associated with K-454.", "evidence": [ { "database": "UniProtKB", "id": "Q8BY35", "url": "https://www.uniprot.org/uniprotkb/Q8BY35" } ] } ] } ], "record_id": "Q8BY35-1" }, { "uniprot_canonical_ac": "Q8VHX6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2726, "chemical_mass": 291119.0, "gene_names": "Flnc;1110055E19Rik;ABP-280;ABPL;Abpl;Fln2;Flnc", "protein_name": "Filamin-C", "disease": [ { "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:0110327", "name": "hypertrophic cardiomyopathy 26", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32.", "url": "https://disease-ontology.org/term/DOID:0110327", "evidence": [ { "id": "0110327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110327" } ], "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: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: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: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 } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ], "pmid": "" }, { "name": "ankyrin binding", "id": "GO:0030506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030506", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ], "pmid": "" }, { "name": "sarcoplasm", "id": "GO:0016528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016528", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ], "pmid": "" } ], "biological_process": [ { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ], "pmid": "" }, { "name": "muscle cell development", "id": "GO:0055001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055001", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ], "pmid": "" }, { "name": "actin filament-based process", "id": "GO:0030029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030029", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VHX6-1", "start_pos": "2647", "end_pos": "2647", "site_lbl": "Ser2647", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2647, "start_aa": "Ser", "end_pos": 2647, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2647", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q8VHX6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VHX6" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "27301331", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27301331" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" } ] } ] }, { "uniprot_canonical_ac": "Q8VHX6-1", "start_pos": "1162", "end_pos": "1162", "site_lbl": "Ser1162", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VHX6-1", "start_pos": "1339", "end_pos": "1339", "site_lbl": "Ser1339", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VHX6-1", "start_pos": "2043", "end_pos": "2043", "site_lbl": "Ser2043", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VHX6-1", "start_pos": "2234", "end_pos": "2234", "site_lbl": "Ser2234", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q8VHX6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VHX6-1", "start_pos": "2237", "end_pos": "2237", "site_lbl": "Ser2237", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VHX6-1", "start_pos": "2239", "end_pos": "2239", "site_lbl": "Thr2239", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VHX6-1", "start_pos": "2587", "end_pos": "2587", "site_lbl": "Ser2587", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VHX6-1", "start_pos": "2618", "end_pos": "2618", "site_lbl": "Ser2618", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VHX6-1", "start_pos": "2621", "end_pos": "2621", "site_lbl": "Ser2621", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VHX6-1", "start_pos": "2633", "end_pos": "2633", "site_lbl": "Ser2633", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VHX6-1", "start_pos": "2715", "end_pos": "2715", "site_lbl": "Ser2715", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VHX6-1", "start_pos": "2719", "end_pos": "2719", "site_lbl": "Ser2719", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VHX6-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ser5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHX6", "url": "https://www.uniprot.org/uniprotkb/Q8VHX6" } ] } ] }, { "uniprot_canonical_ac": "Q8VHX6-1", "start_pos": "1209", "end_pos": "1209", "site_lbl": "Ala1209", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNA->NNS).", "chr_id": "6", "chr_pos": "29447823", "evidence": [ { "id": "rs29609826", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29609826" } ] } ] }, { "uniprot_canonical_ac": "Q8VHX6-1", "start_pos": "1946", "end_pos": "1946", "site_lbl": "Lys1946", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KIT->NIT).", "chr_id": "6", "chr_pos": "29454427", "evidence": [ { "id": "rs3388817508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388817508" } ] } ] } ], "record_id": "Q8VHX6-1" }, { "uniprot_canonical_ac": "Q9R216-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 592, "chemical_mass": 64995.0, "gene_names": "Fzd9;Fz9;Fzd3;Fzd9;mfz9", "protein_name": "Frizzled-9", "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": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "filopodium membrane", "id": "GO:0031527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031527", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "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": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "Wnt-protein binding", "id": "GO:0017147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017147", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "Wnt receptor activity", "id": "GO:0042813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042813", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" } ], "biological_process": [ { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "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": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "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": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "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": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "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": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "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": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "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": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "negative regulation of necroptotic process", "id": "GO:0060546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060546", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "non-canonical Wnt signaling pathway", "id": "GO:0035567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035567", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial depolarization", "id": "GO:0051902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051902", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "regulation of skeletal muscle acetylcholine-gated channel clustering", "id": "GO:1904393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904393", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "negative regulation of skeletal muscle acetylcholine-gated channel clustering", "id": "GO:1904394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904394", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "bone regeneration", "id": "GO:1990523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990523", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" }, { "name": "postsynapse organization", "id": "GO:0099173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099173", "evidence": [ { "database": "UniProtKB", "id": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "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": "Q9R216", "url": "https://www.uniprot.org/uniprotkb/Q9R216" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R216-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Asn159", "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": "NDPHALCMEAPENATAGPTEPHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 159, "start_aa": "Asn", "end_pos": 159, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn159", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 159, "start_aa": "Asn", "end_pos": 159, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn159", "evidence": [ { "id": "Q9R216", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R216#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R216-1", "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" } ] } ] }, { "uniprot_canonical_ac": "Q9R216-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Asn54", "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": "GIGYNLTR", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "Q9R216", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R216#ptm_processing" } ] } ] } ], "record_id": "Q9R216-1" }, { "uniprot_canonical_ac": "Q9WV18-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 960, "chemical_mass": 108216.0, "gene_names": "Gabbr1;GABAB1;GABAbR1;Gabbr1;bM573K1.1", "protein_name": "Gamma-aminobutyric acid type B receptor subunit 1", "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: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: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: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 }, { "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": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "axolemma", "id": "GO:0030673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030673", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "GABA receptor complex", "id": "GO:1902710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902710", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "G protein-coupled receptor heterodimeric complex", "id": "GO:0038039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038039", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "G protein-coupled receptor dimeric complex", "id": "GO:0038037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038037", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "G protein-coupled GABA receptor complex", "id": "GO:1902712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902712", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" } ], "molecular_function": [ { "name": "extracellular matrix protein binding", "id": "GO:1990430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990430", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential", "id": "GO:0099579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099579", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "G protein-coupled GABA receptor activity", "id": "GO:0004965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004965", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential", "id": "GO:0150047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150047", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of glutamate secretion", "id": "GO:0014048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014048", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "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": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "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": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "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": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid signaling pathway", "id": "GO:0007214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007214", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "positive regulation of glutamate secretion", "id": "GO:0014049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014049", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "negative regulation of epinephrine secretion", "id": "GO:0032811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032811", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission", "id": "GO:0050805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050805", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "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": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "negative regulation of dopamine secretion", "id": "GO:0033602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033602", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "synaptic transmission, GABAergic", "id": "GO:0051932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051932", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "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": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" }, { "name": "neuron-glial cell signaling", "id": "GO:0150099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150099", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WV18-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Asn159", "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": "SICSQGQWSTPKPHCQVNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 159, "start_aa": "Asn", "end_pos": 159, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn159", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 159, "start_aa": "Asn", "end_pos": 159, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn159", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2328", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2328" } ] } ] }, { "uniprot_canonical_ac": "Q9WV18-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Asn23", "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": "PLGAGGAQTPNVTSEGCQIIHPPWEGGIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 23, "start_aa": "Asn", "end_pos": 23, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn23", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 23, "start_aa": "Asn", "end_pos": 23, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn23", "evidence": [ { "id": "Q9WV18", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WV18#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WV18-1", "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": "Q9WV18", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WV18#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WV18-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Asn439", "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": 439, "start_aa": "Asn", "end_pos": 439, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn439", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2328", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2328" } ] }, { "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": 439, "start_aa": "Asn", "end_pos": 439, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn439", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2328", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2328" } ] }, { "glytoucan_ac": "G08290VR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SISNMTSQEFVEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 439, "start_aa": "Asn", "end_pos": 439, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn439", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "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": 439, "start_aa": "Asn", "end_pos": 439, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn439", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2328", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2328" } ] }, { "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": 439, "start_aa": "Asn", "end_pos": 439, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn439", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2328", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2328" } ] }, { "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": 439, "start_aa": "Asn", "end_pos": 439, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn439", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2328", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2328" } ] }, { "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": 439, "start_aa": "Asn", "end_pos": 439, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn439", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2328", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2328" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 439, "start_aa": "Asn", "end_pos": 439, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn439", "evidence": [ { "id": "Q9WV18", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WV18#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WV18-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Asn481", "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": 481, "start_aa": "Asn", "end_pos": 481, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn481", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2328", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2328" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LKRHPEETGGFQEAPLAYDAIWALALALNK", "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": "Q9WV18", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WV18#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WV18-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Asn501", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01608SO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LEDFNYNNQTITDQIYRAMNSSSFEGVSGHVVFDASGSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 501, "start_aa": "Asn", "end_pos": 501, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn501", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 501, "start_aa": "Asn", "end_pos": 501, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn501", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2328", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2328" } ] }, { "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": 501, "start_aa": "Asn", "end_pos": 501, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn501", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2328", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2328" } ] }, { "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": 501, "start_aa": "Asn", "end_pos": 501, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn501", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2328", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2328" } ] }, { "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": 501, "start_aa": "Asn", "end_pos": 501, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn501", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2328", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2328" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 501, "start_aa": "Asn", "end_pos": 501, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn501", "evidence": [ { "id": "Q9WV18", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WV18#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WV18-1", "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": "AMNSSSFEGVSGHVVFDASGSR", "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": "Q9WV18", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WV18#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WV18-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Asn83", "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": "CLANGSWTDMDTPSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 83, "start_aa": "Asn", "end_pos": 83, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 83, "start_aa": "Asn", "end_pos": 83, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2328", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2328" } ] }, { "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": 83, "start_aa": "Asn", "end_pos": 83, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2328", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2328" } ] }, { "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": 83, "start_aa": "Asn", "end_pos": 83, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2328", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2328" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 83, "start_aa": "Asn", "end_pos": 83, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "Q9WV18", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WV18#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WV18-1", "start_pos": "872", "end_pos": "872", "site_lbl": "Thr872", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WV18", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WV18" } ] } ] }, { "uniprot_canonical_ac": "Q9WV18-1", "start_pos": "929", "end_pos": "929", "site_lbl": "Thr929", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WV18", "url": "https://www.uniprot.org/uniprotkb/Q9WV18" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PRO", "id": "Q9WV18", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9WV18" }, { "database": "iPTMnet", "id": "Q9WV18", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WV18" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] }, { "uniprot_canonical_ac": "Q9WV18-1", "start_pos": "812", "end_pos": "812", "site_lbl": "Ala812", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "17", "chr_pos": "37381671", "evidence": [ { "id": "rs3389462969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389462969" } ] } ] }, { "uniprot_canonical_ac": "Q9WV18-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Ser93", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SRC->NRC).", "chr_id": "17", "chr_pos": "37358541", "evidence": [ { "id": "rs3389453183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389453183" } ] } ] } ], "record_id": "Q9WV18-1" }, { "uniprot_canonical_ac": "Q99MR1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1044, "chemical_mass": 116238.0, "gene_names": "Gigyf1;Gigyf1;Kiaa4110;Perq1;mKIAA4110", "protein_name": "GRB10-interacting GYF protein 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 } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" } ], "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": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99MR1-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Ser137", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99MR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99MR1" } ] } ] }, { "uniprot_canonical_ac": "Q99MR1-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Ser157", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" } ] } ] }, { "uniprot_canonical_ac": "Q99MR1-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Ser228", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" } ] } ] }, { "uniprot_canonical_ac": "Q99MR1-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99MR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99MR1" } ] } ] }, { "uniprot_canonical_ac": "Q99MR1-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Ser28", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99MR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99MR1" } ] } ] }, { "uniprot_canonical_ac": "Q99MR1-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Ser343", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99MR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99MR1" } ] } ] }, { "uniprot_canonical_ac": "Q99MR1-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Ser408", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" } ] } ] }, { "uniprot_canonical_ac": "Q99MR1-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Ser540", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" } ] } ] }, { "uniprot_canonical_ac": "Q99MR1-1", "start_pos": "634", "end_pos": "634", "site_lbl": "Ser634", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" } ] } ] }, { "uniprot_canonical_ac": "Q99MR1-1", "start_pos": "863", "end_pos": "863", "site_lbl": "Ser863", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" } ] } ] }, { "uniprot_canonical_ac": "Q99MR1-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Trp500", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Decreases binding to GRB10.", "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" }, { "database": "PubMed", "id": "12771153", "url": "https://glygen.org/publication/PubMed/12771153" } ] } ] }, { "uniprot_canonical_ac": "Q99MR1-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Gly504", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Decreases binding to GRB10.", "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" }, { "database": "PubMed", "id": "12771153", "url": "https://glygen.org/publication/PubMed/12771153" } ] } ] }, { "uniprot_canonical_ac": "Q99MR1-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Tyr505", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Decreases binding to GRB10.", "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" }, { "database": "PubMed", "id": "12771153", "url": "https://glygen.org/publication/PubMed/12771153" } ] } ] }, { "uniprot_canonical_ac": "Q99MR1-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Phe506", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Abolishes binding to GRB10.", "evidence": [ { "database": "UniProtKB", "id": "Q99MR1", "url": "https://www.uniprot.org/uniprotkb/Q99MR1" }, { "database": "PubMed", "id": "12771153", "url": "https://glygen.org/publication/PubMed/12771153" } ] } ] } ], "record_id": "Q99MR1-1" }, { "uniprot_canonical_ac": "Q61625-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1007, "chemical_mass": 113082.0, "gene_names": "Grid2;B230104L07Rik;GluD2;GluRdelta2;Grid2;Lc;Lc;MMS10-AC;Ms10ac;cpr;ho;nmf408;tpr", "protein_name": "Glutamate receptor ionotropic, delta-2", "disease": [ { "disease_id": "DOID:0080042", "name": "autosomal recessive spinocerebellar ataxia 18", "description": "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22.", "url": "https://disease-ontology.org/term/DOID:0080042", "evidence": [ { "id": "0080042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080042" } ], "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": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor complex", "id": "GO:0008328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008328", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "AMPA glutamate receptor complex", "id": "GO:0032281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032281", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "somatodendritic compartment", "id": "GO:0036477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036477", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "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": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "trans-synaptic protein complex", "id": "GO:0098820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098820", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" } ], "biological_process": [ { "name": "excitatory synapse assembly", "id": "GO:1904861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904861", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "prepulse inhibition", "id": "GO:0060134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060134", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "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": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "regulation of neuron projection development", "id": "GO:0010975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010975", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission", "id": "GO:0099557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099557", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "cerebellar granule cell differentiation", "id": "GO:0021707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021707", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "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": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "regulation of presynapse assembly", "id": "GO:1905606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905606", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "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": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "regulation of postsynaptic density assembly", "id": "GO:0099151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099151", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "synaptic signaling via neuropeptide", "id": "GO:0099538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099538", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "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": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" }, { "name": "AMPA glutamate receptor activity", "id": "GO:0004971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004971", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61625-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Asn293", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G76295SF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QTFPVPQNISQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 293, "start_aa": "Asn", "end_pos": 293, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn293", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 293, "start_aa": "Asn", "end_pos": 293, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn293", "evidence": [ { "id": "Q61625", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61625#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61625-1", "start_pos": "426", "end_pos": "426", "site_lbl": "Asn426", "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": "KLGCWNPVTGLNGSLTDKK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 426, "start_aa": "Asn", "end_pos": 426, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn426", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 426, "start_aa": "Asn", "end_pos": 426, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn426", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2346", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2346" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 426, "start_aa": "Asn", "end_pos": 426, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn426", "evidence": [ { "id": "Q61625", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61625#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61625-1", "start_pos": "713", "end_pos": "713", "site_lbl": "Asn713", "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": "DSMYSQMWRMINRSNGSENNVLESQAGIQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 713, "start_aa": "Asn", "end_pos": 713, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn713", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 713, "start_aa": "Asn", "end_pos": 713, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn713", "evidence": [ { "id": "Q61625", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61625#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61625-1", "start_pos": "716", "end_pos": "716", "site_lbl": "Asn716", "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": 716, "start_aa": "Asn", "end_pos": 716, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn716", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2346", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2346" } ] }, { "glytoucan_ac": "G14994KB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 716, "start_aa": "Asn", "end_pos": 716, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn716", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2346", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2346" } ] }, { "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": 716, "start_aa": "Asn", "end_pos": 716, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn716", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2346", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2346" } ] }, { "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": 716, "start_aa": "Asn", "end_pos": 716, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn716", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2346", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2346" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SNGSENNVLESQAGIQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 716, "start_aa": "Asn", "end_pos": 716, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn716", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 716, "start_aa": "Asn", "end_pos": 716, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn716", "evidence": [ { "id": "Q61625", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61625#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61625-1", "start_pos": "929", "end_pos": "929", "site_lbl": "Thr929", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 929, "start_aa": "Thr", "end_pos": 929, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr929", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61625", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61625" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] } ] }, { "uniprot_canonical_ac": "Q61625-1", "start_pos": "931", "end_pos": "931", "site_lbl": "Thr931", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 931, "start_aa": "Thr", "end_pos": 931, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr931", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61625", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61625" }, { "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": "Q61625-1", "start_pos": "981", "end_pos": "981", "site_lbl": "Thr981", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 981, "start_aa": "Thr", "end_pos": 981, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr981", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61625", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61625" } ] } ] }, { "uniprot_canonical_ac": "Q61625-1", "start_pos": "990", "end_pos": "990", "site_lbl": "Thr990", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 990, "start_aa": "Thr", "end_pos": 990, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr990", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q61625-1", "start_pos": "1006", "end_pos": "1006", "site_lbl": "Ser1006", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" } ] } ] }, { "uniprot_canonical_ac": "Q61625-1", "start_pos": "883", "end_pos": "883", "site_lbl": "Ser883", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61625", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61625" } ] } ] }, { "uniprot_canonical_ac": "Q61625-1", "start_pos": "886", "end_pos": "886", "site_lbl": "Thr886", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61625", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61625" } ] } ] }, { "uniprot_canonical_ac": "Q61625-1", "start_pos": "890", "end_pos": "890", "site_lbl": "Ser890", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61625", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61625" } ] } ] }, { "uniprot_canonical_ac": "Q61625-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Ser295", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIS->NIG).", "chr_id": "6", "chr_pos": "64040942", "evidence": [ { "id": "rs3388825800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388825800" } ] } ] }, { "uniprot_canonical_ac": "Q61625-1", "start_pos": "920", "end_pos": "920", "site_lbl": "Ser920", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes interaction with SHANK1 and SHANK2.", "evidence": [ { "database": "UniProtKB", "id": "Q61625", "url": "https://www.uniprot.org/uniprotkb/Q61625" }, { "database": "PubMed", "id": "15207857", "url": "https://glygen.org/publication/PubMed/15207857" } ] } ] } ], "record_id": "Q61625-1" }, { "uniprot_canonical_ac": "D3Z7P3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 674, "chemical_mass": 73964.0, "gene_names": "Gls;6330442B14;B230365M23Rik;Gls1;Gls;Kiaa0838", "protein_name": "Glutaminase kidney isoform, mitochondrial", "disease": [ { "disease_id": "DOID:0061156", "name": "CASGID syndrome", "description": "A syndrome characterized by an elevated glutamate to glutamine ratio and impaired intellectual development with the variable features of infantile cataract, skin abnormalities, seizures, and progressive spastic quadriplegia that has_material_basis_in heterozygous mutation in the GLS gene, which encodes glutaminase, on chromosome 2q32.", "url": "https://disease-ontology.org/term/DOID:0061156", "evidence": [ { "id": "0061156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061156" } ], "weight": 0.0 }, { "disease_id": "DOID:0112207", "name": "developmental and epileptic encephalopathy 71", "description": "A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2.", "url": "https://disease-ontology.org/term/DOID:0112207", "evidence": [ { "id": "0112207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112207" } ], "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 } ], "biological_process": [ { "name": "suckling behavior", "id": "GO:0001967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001967", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" } ], "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": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" } ], "pmid": "" }, { "name": "glutamate biosynthetic process", "id": "GO:0006537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006537", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" } ], "pmid": "" }, { "name": "L-glutamine catabolic process", "id": "GO:0006543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006543", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" } ], "pmid": "" }, { "name": "intracellular glutamate homeostasis", "id": "GO:0090461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090461", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" } ], "pmid": "" }, { "name": "glutamine metabolic process", "id": "GO:0006541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006541", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" } ], "pmid": "" }, { "name": "glutaminase activity", "id": "GO:0004359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004359", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D3Z7P3-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Asn380", "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": "MAGNEYVGFSNATFQSER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 380, "start_aa": "Asn", "end_pos": 380, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn380", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "D3Z7P3-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Thr88", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 88, "start_aa": "Thr", "end_pos": 88, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr88", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "D3Z7P3-1", "start_pos": "657", "end_pos": "657", "site_lbl": "Ser657", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" } ] } ] }, { "uniprot_canonical_ac": "D3Z7P3-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Lys202", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Increased stimulation of enzyme activity by phosphate.", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" }, { "database": "PubMed", "id": "23935106", "url": "https://glygen.org/publication/PubMed/23935106" } ] } ] }, { "uniprot_canonical_ac": "D3Z7P3-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Lys207", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Increased stimulation of enzyme activity by phosphate.", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" }, { "database": "PubMed", "id": "23935106", "url": "https://glygen.org/publication/PubMed/23935106" } ] } ] }, { "uniprot_canonical_ac": "D3Z7P3-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Tyr254", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Increased enzyme activity in the absence of phosphate. No effect on stimulation of enzyme activity by phosphate.", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" }, { "database": "PubMed", "id": "27542409", "url": "https://glygen.org/publication/PubMed/27542409" } ] } ] }, { "uniprot_canonical_ac": "D3Z7P3-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Lys316", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Forms dimers with full, phosphate-independent activity; when associated with A-325 and K-391.", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" }, { "database": "PubMed", "id": "27542409", "url": "https://glygen.org/publication/PubMed/27542409" } ] } ] }, { "uniprot_canonical_ac": "D3Z7P3-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Gly320", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "P", "comment": "Loss of enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" }, { "database": "PubMed", "id": "27542409", "url": "https://glygen.org/publication/PubMed/27542409" } ] } ] }, { "uniprot_canonical_ac": "D3Z7P3-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Lys325", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Constitutive enzyme activity that is fully active also in the absence phosphate. Forms oligomers with full, phosphate-independent activity; when associated with K-391. Forms dimers with full, phosphate-independent activity; when associated with Q-316 and K-391.", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" }, { "database": "PubMed", "id": "23935106", "url": "https://glygen.org/publication/PubMed/23935106" }, { "database": "PubMed", "id": "27542409", "url": "https://glygen.org/publication/PubMed/27542409" } ] } ] }, { "uniprot_canonical_ac": "D3Z7P3-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Asp391", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "K", "comment": "Abolishes assembly of dimers into functional tetramers. Loss of enzyme activity. Forms oligomers with full, phosphate-independent activity; when associated with A-325. Forms dimers with full, phosphate-independent activity; when associated with Q-316 and A-325.", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" }, { "database": "PubMed", "id": "27542409", "url": "https://glygen.org/publication/PubMed/27542409" } ] } ] }, { "uniprot_canonical_ac": "D3Z7P3-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Phe394", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Impairs tetramerization and promotes formation of homodimers. Impairs activation by phosphate.", "evidence": [ { "database": "UniProtKB", "id": "D3Z7P3", "url": "https://www.uniprot.org/uniprotkb/D3Z7P3" }, { "database": "PubMed", "id": "22228304", "url": "https://glygen.org/publication/PubMed/22228304" } ] } ] } ], "record_id": "D3Z7P3-1" }, { "uniprot_canonical_ac": "Q68ED2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 915, "chemical_mass": 102219.0, "gene_names": "Grm7;6330570A01Rik;C030018L03;E130018M02Rik;Gpr1g;Gprc1g;Grm7;Mglur7;SMN2;Tg(SMN2)89Ahmb;mGluR7", "protein_name": "Metabotropic glutamate receptor 7", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "asymmetric synapse", "id": "GO:0032279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032279", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" } ], "molecular_function": [ { "name": "adenylate cyclase inhibiting G protein-coupled glutamate receptor activity", "id": "GO:0001640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001640", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "calcium channel regulator activity", "id": "GO:0005246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005246", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "voltage-gated calcium channel activity", "id": "GO:0005245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005245", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "glutamate binding", "id": "GO:0016595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016595", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "group III metabotropic glutamate receptor activity", "id": "GO:0001642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001642", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "glutamate receptor activity", "id": "GO:0008066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008066", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "adenylate cyclase inhibitor activity", "id": "GO:0010855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010855", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "serine binding", "id": "GO:0070905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070905", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" } ], "biological_process": [ { "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": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "adult behavior", "id": "GO:0030534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030534", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "short-term memory", "id": "GO:0007614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007614", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "negative regulation of glutamate secretion", "id": "GO:0014050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014050", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "nervous system process", "id": "GO:0050877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050877", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "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": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "behavioral fear response", "id": "GO:0001662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001662", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "conditioned taste aversion", "id": "GO:0001661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001661", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "transmission of nerve impulse", "id": "GO:0019226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019226", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, glutamatergic", "id": "GO:0051966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051966", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "axon development", "id": "GO:0061564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061564", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "G protein-coupled glutamate receptor signaling pathway", "id": "GO:0007216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007216", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway", "id": "GO:0007196", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007196", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" }, { "name": "multicellular organismal response to stress", "id": "GO:0033555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033555", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "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": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q68ED2-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Asn458", "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": "NVNFNGSAGTPVMFNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 458, "start_aa": "Asn", "end_pos": 458, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn458", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 458, "start_aa": "Asn", "end_pos": 458, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn458", "evidence": [ { "id": "Q68ED2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q68ED2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q68ED2-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Asn486", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G35029YA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NGDAPGRYDIFQYQTTNTTNPGYR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 486, "start_aa": "Asn", "end_pos": 486, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn486", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 486, "start_aa": "Asn", "end_pos": 486, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn486", "evidence": [ { "id": "Q68ED2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q68ED2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q68ED2-1", "start_pos": "572", "end_pos": "572", "site_lbl": "Asn572", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q68ED2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q68ED2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q68ED2-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Asn98", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31370VX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LEAMLYALDQINSDPNLLPNVTLGAR", "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": "Q68ED2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q68ED2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q68ED2-1", "start_pos": "900", "end_pos": "900", "site_lbl": "Ser900", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68ED2", "url": "https://www.uniprot.org/uniprotkb/Q68ED2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PRO", "id": "Q68ED2", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q68ED2" }, { "database": "iPTMnet", "id": "Q68ED2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q68ED2" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] } ], "record_id": "Q68ED2-1" }, { "uniprot_canonical_ac": "O70325-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 197, "chemical_mass": 22229.0, "gene_names": "Gpx4;GPx-4;GSHPx-4;Gpx4;PHGPx;mtPHGPx;snGPx", "protein_name": "Phospholipid hydroperoxide glutathione peroxidase GPX4", "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 }, { "disease_id": "DOID:0112298", "name": "spondylometaphyseal dysplasia Sedaghatian type", "description": "A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3.", "url": "https://disease-ontology.org/term/DOID:0112298", "evidence": [ { "id": "0112298", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112298" } ], "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: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: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: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: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: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": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "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": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "lipoxygenase pathway", "id": "GO:0019372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019372", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "protein polymerization", "id": "GO:0051258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051258", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "arachidonate metabolic process", "id": "GO:0019369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019369", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "negative regulation of ferroptosis", "id": "GO:0110076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110076", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "glutathione peroxidase activity", "id": "GO:0004602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004602", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "selenium binding", "id": "GO:0008430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008430", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" }, { "name": "phospholipid-hydroperoxide glutathione peroxidase activity", "id": "GO:0047066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047066", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O70325-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Asn79", "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": "TDVNYTQLVDLHAR", "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": "O70325-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ser40", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" } ] } ] }, { "uniprot_canonical_ac": "O70325-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Xxx73", "weight": 0.0, "mutagenesis": [ { "sequence_org": "U", "sequence_mut": "C", "comment": "Mice develop normally and were born at the expected Mendelian ratio. Homozygous mice however lose body weight by P14-P16 and are susceptible to fatal epileptic seizures. Cells are extremely sensitive to peroxide-induced cell death because the enzyme is inactivated: The enzyme undergoes overoxidation and irreversible inactivation in the presence of exceeding concentrations of its substrates. Unlike the wild-type enzyme, which can form a selenylamide in the absence of reducing equivalents, thereby preventing its irreversible overoxidation, the mutant fails to form such an intermediate during its catalytic cycle.", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" }, { "database": "PubMed", "id": "29290465", "url": "https://glygen.org/publication/PubMed/29290465" } ] }, { "sequence_org": "U", "sequence_mut": "S", "comment": "Early embryonic lethality in homozygous mice. Male subfertility in heterozygous mice due to impaired spermatogenesis.", "evidence": [ { "database": "UniProtKB", "id": "O70325", "url": "https://www.uniprot.org/uniprotkb/O70325" }, { "database": "PubMed", "id": "25922076", "url": "https://glygen.org/publication/PubMed/25922076" } ] } ] } ], "record_id": "O70325-1" }, { "uniprot_canonical_ac": "P43277-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P43277", "url": "https://www.uniprot.org/uniprotkb/P43277" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 221, "chemical_mass": 22100.0, "gene_names": "H1-3;H1-3;H1.3;H1D;H1f3;H1s-4;Hist1h1d", "protein_name": "Histone H1.3", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P43277", "url": "https://www.uniprot.org/uniprotkb/P43277" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "P43277", "url": "https://www.uniprot.org/uniprotkb/P43277" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "P43277", "url": "https://www.uniprot.org/uniprotkb/P43277" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "P43277", "url": "https://www.uniprot.org/uniprotkb/P43277" } ], "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": "P43277", "url": "https://www.uniprot.org/uniprotkb/P43277" } ], "pmid": "" }, { "name": "nucleosomal DNA binding", "id": "GO:0031492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031492", "evidence": [ { "database": "UniProtKB", "id": "P43277", "url": "https://www.uniprot.org/uniprotkb/P43277" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "P43277", "url": "https://www.uniprot.org/uniprotkb/P43277" } ], "pmid": "" } ], "biological_process": [ { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "P43277", "url": "https://www.uniprot.org/uniprotkb/P43277" } ], "pmid": "" }, { "name": "chromosome condensation", "id": "GO:0030261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030261", "evidence": [ { "database": "UniProtKB", "id": "P43277", "url": "https://www.uniprot.org/uniprotkb/P43277" } ], "pmid": "" }, { "name": "negative regulation of DNA recombination", "id": "GO:0045910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045910", "evidence": [ { "database": "UniProtKB", "id": "P43277", "url": "https://www.uniprot.org/uniprotkb/P43277" } ], "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": "P43277", "url": "https://www.uniprot.org/uniprotkb/P43277" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P43277-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Ser105", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43277", "url": "https://www.uniprot.org/uniprotkb/P43277" } ] } ] }, { "uniprot_canonical_ac": "P43277-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Thr18", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43277", "url": "https://www.uniprot.org/uniprotkb/P43277" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "P43277", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P43277" } ] } ] }, { "uniprot_canonical_ac": "P43277-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43277", "url": "https://www.uniprot.org/uniprotkb/P43277" } ] } ] } ], "record_id": "P43277-1" }, { "uniprot_canonical_ac": "Q61627-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1009, "chemical_mass": 112210.0, "gene_names": "Grid1;GluD1;GluRdelta1;Grid1", "protein_name": "Glutamate receptor ionotropic, delta-1", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "AMPA glutamate receptor complex", "id": "GO:0032281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032281", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "trans-synaptic protein complex", "id": "GO:0098820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098820", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential", "id": "GO:0099530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099530", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "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": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "AMPA glutamate receptor activity", "id": "GO:0004971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004971", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "GABA receptor activity", "id": "GO:0016917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016917", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "signaling receptor regulator activity", "id": "GO:0030545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030545", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" } ], "biological_process": [ { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "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": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission", "id": "GO:0099557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099557", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "negative regulation of synaptic plasticity", "id": "GO:0031914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031914", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "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": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "regulation of postsynapse organization", "id": "GO:0099175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099175", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" }, { "name": "synaptic signaling via neuropeptide", "id": "GO:0099538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099538", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61627-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Asn131", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 131, "start_aa": "Asn", "end_pos": 131, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn131", "evidence": [ { "id": "Q61627", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61627#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61627-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Asn200", "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": "VDKNISHVFTSLFTTMK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 200, "start_aa": "Asn", "end_pos": 200, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn200", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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=5KC9&bu=0&command=select+.B:200;+center+selection;+zoom+selection" }, "start_pos": 200, "start_aa": "Asn", "end_pos": 200, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn200", "evidence": [ { "id": "Q61627", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61627#ptm_processing" }, { "id": "5KC9", "database": "PDB", "url": "https://www.rcsb.org/structure/5KC9" }, { "id": "5KC9", "database": "PDB", "url": "https://www.rcsb.org/structure/5KC9" }, { "id": "5KC9|B|200", "database": "", "url": "" }, { "id": "5KC9|A|200", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q61627-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Asn422", "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": 422, "start_aa": "Asn", "end_pos": 422, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn422", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2345", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2345" } ] }, { "glytoucan_ac": "G10486CT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GLNGSLQER", "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" } ] }, { "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": 422, "start_aa": "Asn", "end_pos": 422, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn422", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2345", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2345" } ] }, { "glytoucan_ac": "", "type": "N-linked", "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=5KC9&bu=0&command=select+.A:422;+center+selection;+zoom+selection" }, "start_pos": 422, "start_aa": "Asn", "end_pos": 422, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn422", "evidence": [ { "id": "Q61627", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61627#ptm_processing" }, { "id": "5KC9", "database": "PDB", "url": "https://www.rcsb.org/structure/5KC9" }, { "id": "5KC9", "database": "PDB", "url": "https://www.rcsb.org/structure/5KC9" }, { "id": "5KC9|A|422", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q61627-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Asn498", "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": "YGHQLHNTSWNGMIGELISK", "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": "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": 498, "start_aa": "Asn", "end_pos": 498, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn498", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2345", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2345" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_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": "Q61627", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61627#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61627-1", "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": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61627", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61627" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "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": "Q61627-1", "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": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61627", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61627" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "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": "Q61627-1", "start_pos": "942", "end_pos": "942", "site_lbl": "Thr942", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 942, "start_aa": "Thr", "end_pos": 942, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr942", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61627", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61627" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q61627", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61627" } ] } ] }, { "uniprot_canonical_ac": "Q61627-1", "start_pos": "944", "end_pos": "944", "site_lbl": "Ser944", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 944, "start_aa": "Ser", "end_pos": 944, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser944", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q61627", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61627" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Impairs regulation of NMDAR postsynaptic response.", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" }, { "database": "PubMed", "id": "34135511", "url": "https://glygen.org/publication/PubMed/34135511" } ] } ] }, { "uniprot_canonical_ac": "Q61627-1", "start_pos": "711", "end_pos": "711", "site_lbl": "Thr711", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TIS->NIS).", "chr_id": "14", "chr_pos": "35242780", "evidence": [ { "id": "rs3389316513", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389316513" } ] } ] }, { "uniprot_canonical_ac": "Q61627-1", "start_pos": "617", "end_pos": "617", "site_lbl": "Val617", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "R", "comment": "Loss of cation channel activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" }, { "database": "PubMed", "id": "28696429", "url": "https://glygen.org/publication/PubMed/28696429" } ] } ] }, { "uniprot_canonical_ac": "Q61627-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Phe73", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "D", "comment": "Abolishes dimerization. Weakly interacts with C1q domain of CBLN1.", "evidence": [ { "database": "UniProtKB", "id": "Q61627", "url": "https://www.uniprot.org/uniprotkb/Q61627" }, { "database": "PubMed", "id": "27418511", "url": "https://glygen.org/publication/PubMed/27418511" } ] } ] } ], "record_id": "Q61627-1" }, { "uniprot_canonical_ac": "Q6IR34-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 673, "chemical_mass": 74362.0, "gene_names": "Gpsm1;1810037C22Rik;Ags3;C10a;Gpsm1", "protein_name": "G protein-signaling modulator 1", "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: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: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": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" }, { "name": "negative regulation of GTPase activity", "id": "GO:0034260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034260", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" }, { "name": "establishment of mitotic spindle orientation", "id": "GO:0000132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000132", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" }, { "name": "negative regulation of guanyl-nucleotide exchange factor activity", "id": "GO:1905098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905098", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "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": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" } ], "molecular_function": [ { "name": "G-protein alpha-subunit binding", "id": "GO:0001965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001965", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" }, { "name": "GDP-dissociation inhibitor activity", "id": "GO:0005092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005092", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" }, { "name": "GTPase regulator activity", "id": "GO:0030695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030695", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6IR34-1", "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": "NLSLVKELGDRAAQGR", "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": "Q6IR34-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Ser410", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "IntAct", "id": "Q6IR34", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q6IR34*" }, { "database": "iPTMnet", "id": "Q6IR34", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6IR34" }, { "database": "PubMed", "id": "22117215", "url": "https://glygen.org/publication/PubMed/22117215" } ] } ] }, { "uniprot_canonical_ac": "Q6IR34-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Ser442", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ] } ] }, { "uniprot_canonical_ac": "Q6IR34-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Ser467", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ] } ] }, { "uniprot_canonical_ac": "Q6IR34-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Ser469", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ] } ] }, { "uniprot_canonical_ac": "Q6IR34-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Ser490", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6IR34", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6IR34" } ] } ] }, { "uniprot_canonical_ac": "Q6IR34-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Ser491", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6IR34", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6IR34" } ] } ] }, { "uniprot_canonical_ac": "Q6IR34-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Ser543", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ] } ] }, { "uniprot_canonical_ac": "Q6IR34-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Ser567", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" } ] } ] }, { "uniprot_canonical_ac": "Q6IR34-1", "start_pos": "653", "end_pos": "653", "site_lbl": "Ser653", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6IR34", "url": "https://www.uniprot.org/uniprotkb/Q6IR34" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "iPTMnet", "id": "Q6IR34", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6IR34" } ] } ] }, { "uniprot_canonical_ac": "Q6IR34-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Ile553", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IAS->NAS).", "chr_id": "2", "chr_pos": "26235214", "evidence": [ { "id": "rs3388538503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388538503" } ] } ] } ], "record_id": "Q6IR34-1" }, { "uniprot_canonical_ac": "Q8BMI4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 908, "chemical_mass": 101779.0, "gene_names": "Gen1;5830483C08Rik;Gen1", "protein_name": "Flap endonuclease GEN homolog 1", "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": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" } ], "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": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" } ], "pmid": "" }, { "name": "replication fork processing", "id": "GO:0031297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031297", "evidence": [ { "database": "UniProtKB", "id": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle spindle assembly checkpoint", "id": "GO:0090267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090267", "evidence": [ { "database": "UniProtKB", "id": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" } ], "pmid": "" }, { "name": "resolution of DNA recombination intermediates", "id": "GO:0071139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071139", "evidence": [ { "database": "UniProtKB", "id": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" } ], "pmid": "" }, { "name": "resolution of mitotic recombination intermediates", "id": "GO:0071140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071140", "evidence": [ { "database": "UniProtKB", "id": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" } ], "pmid": "" }, { "name": "four-way junction DNA binding", "id": "GO:0000400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000400", "evidence": [ { "database": "UniProtKB", "id": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" } ], "pmid": "" }, { "name": "crossover junction DNA endonuclease activity", "id": "GO:0008821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008821", "evidence": [ { "database": "UniProtKB", "id": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" } ], "pmid": "" }, { "name": "5'-flap endonuclease activity", "id": "GO:0017108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017108", "evidence": [ { "database": "UniProtKB", "id": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" } ], "pmid": "" }, { "name": "nuclease activity", "id": "GO:0004518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004518", "evidence": [ { "database": "UniProtKB", "id": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BMI4-1", "start_pos": "794", "end_pos": "794", "site_lbl": "Ser794", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BMI4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BMI4" } ] } ] }, { "uniprot_canonical_ac": "Q8BMI4-1", "start_pos": "795", "end_pos": "795", "site_lbl": "Ser795", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BMI4", "url": "https://www.uniprot.org/uniprotkb/Q8BMI4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BMI4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BMI4" } ] } ] } ], "record_id": "Q8BMI4-1" }, { "uniprot_canonical_ac": "Q921D9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 618, "chemical_mass": 70176.0, "gene_names": "Grhl1;Grhl1;LBP-32;MGR;Mgr;Tcfcp2l2", "protein_name": "Grainyhead-like protein 1 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": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "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": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "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": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "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": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "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": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "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": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "pmid": "" }, { "name": "regulation of keratinocyte differentiation", "id": "GO:0045616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045616", "evidence": [ { "database": "UniProtKB", "id": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "pmid": "" }, { "name": "desmosome organization", "id": "GO:0002934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002934", "evidence": [ { "database": "UniProtKB", "id": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q921D9-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Thr143", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 143, "start_aa": "Thr", "end_pos": 143, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr143", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q921D9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q921D9" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "12", "chr_pos": "24631476", "evidence": [ { "id": "rs3389233613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389233613" } ] } ] }, { "uniprot_canonical_ac": "Q921D9-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Thr144", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 144, "start_aa": "Thr", "end_pos": 144, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr144", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q921D9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q921D9" } ] } ] }, { "uniprot_canonical_ac": "Q921D9-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Thr146", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 146, "start_aa": "Thr", "end_pos": 146, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr146", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q921D9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q921D9" }, { "id": "Q921D9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q921D9" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q921D9-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Ser148", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 148, "start_aa": "Ser", "end_pos": 148, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser148", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q921D9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q921D9" } ] } ] }, { "uniprot_canonical_ac": "Q921D9-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Thr208", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q921D9", "url": "https://www.uniprot.org/uniprotkb/Q921D9" } ] } ] } ], "record_id": "Q921D9-1" }, { "uniprot_canonical_ac": "P43406-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1044, "chemical_mass": 115360.0, "gene_names": "Itgav;1110004F14Rik;2610028E01Rik;CD51;D430040G12Rik;Itgav", "protein_name": "Integrin alpha-V", "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: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:11382", "name": "corneal neovascularization", "description": "", "url": "https://disease-ontology.org/term/DOID:11382", "evidence": [ { "id": "11382", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11382" } ], "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: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:4248", "name": "coronary stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4248", "evidence": [ { "id": "4248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4248" } ], "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: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 bone resorption", "id": "GO:0045124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045124", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "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": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "negative regulation of lipid storage", "id": "GO:0010888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010888", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "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": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "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": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "fertilization", "id": "GO:0009566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009566", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "cell adhesion mediated by integrin", "id": "GO:0033627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033627", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "negative regulation of macrophage derived foam cell differentiation", "id": "GO:0010745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010745", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "positive regulation of osteoblast proliferation", "id": "GO:0033690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033690", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "substrate adhesion-dependent cell spreading", "id": "GO:0034446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034446", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "endothelial cell migration", "id": "GO:0043542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043542", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "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": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "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": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "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": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "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": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "focal adhesion assembly", "id": "GO:0048041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048041", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "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": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "apoptotic cell clearance", "id": "GO:0043277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043277", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "negative chemotaxis", "id": "GO:0050919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050919", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "cell-substrate adhesion", "id": "GO:0031589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031589", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "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": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "trophoblast giant cell differentiation", "id": "GO:0060707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060707", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "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": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "response to nitric oxide", "id": "GO:0071731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071731", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "heterotypic cell-cell adhesion", "id": "GO:0034113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034113", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "detection of molecule of bacterial origin", "id": "GO:0032490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032490", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "endodermal cell differentiation", "id": "GO:0035987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035987", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "negative regulation of lipid transport", "id": "GO:0032369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032369", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "negative regulation of lipoprotein metabolic process", "id": "GO:0050748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050748", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "negative regulation of entry of bacterium into host cell", "id": "GO:2000536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000536", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "gonad morphogenesis", "id": "GO:0035262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035262", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "regulation of phagocytosis", "id": "GO:0050764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050764", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "transforming growth factor beta production", "id": "GO:0071604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071604", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" } ], "molecular_function": [ { "name": "extracellular matrix protein binding", "id": "GO:1990430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990430", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "neuregulin binding", "id": "GO:0038132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038132", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "transforming growth factor beta binding", "id": "GO:0050431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050431", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "extracellular matrix binding", "id": "GO:0050840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050840", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "fibronectin binding", "id": "GO:0001968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001968", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "fibroblast growth factor binding", "id": "GO:0017134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017134", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "C-X3-C chemokine binding", "id": "GO:0019960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019960", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "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": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" } ], "cellular_component": [ { "name": "alphav-beta3 integrin-IGF-1-IGF1R complex", "id": "GO:0035867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035867", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "lamellipodium membrane", "id": "GO:0031258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031258", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "filopodium membrane", "id": "GO:0031527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031527", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "microvillus membrane", "id": "GO:0031528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031528", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "integrin complex", "id": "GO:0008305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008305", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "integrin alphav-beta3 complex", "id": "GO:0034683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034683", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "integrin alphav-beta5 complex", "id": "GO:0034684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034684", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "integrin alphav-beta6 complex", "id": "GO:0034685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034685", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "integrin alphav-beta8 complex", "id": "GO:0034686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034686", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "alphav-beta3 integrin-HMGB1 complex", "id": "GO:0035868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035868", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" }, { "name": "integrin alphav-beta1 complex", "id": "GO:0034682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034682", "evidence": [ { "database": "UniProtKB", "id": "P43406", "url": "https://www.uniprot.org/uniprotkb/P43406" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P43406-1", "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": "P43406", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P43406#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P43406-1", "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": "P43406", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P43406#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P43406-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Asn546", "weight": 0.0, "glycosylation": [ { "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": 546, "start_aa": "Asn", "end_pos": 546, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn546", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRS->TRS).", "chr_id": "2", "chr_pos": "83615749", "evidence": [ { "id": "rs3388560273", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388560273" } ] } ] }, { "uniprot_canonical_ac": "P43406-1", "start_pos": "615", "end_pos": "615", "site_lbl": "Asn615", "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": 615, "start_aa": "Asn", "end_pos": 615, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn615", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 615, "start_aa": "Asn", "end_pos": 615, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn615", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TAADATGLQPILNQFTPANVSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 615, "start_aa": "Asn", "end_pos": 615, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn615", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 615, "start_aa": "Asn", "end_pos": 615, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn615", "evidence": [ { "id": "P43406", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P43406#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": "P43406-1", "start_pos": "617", "end_pos": "617", "site_lbl": "Ser617", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 617, "start_aa": "Ser", "end_pos": 617, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser617", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P43406", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P43406" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "P43406-1", "start_pos": "704", "end_pos": "704", "site_lbl": "Asn704", "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": "LSCAFKTENQTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 704, "start_aa": "Asn", "end_pos": 704, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn704", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 704, "start_aa": "Asn", "end_pos": 704, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn704", "evidence": [ { "id": "P43406", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P43406#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P43406-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Asn74", "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": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "glytoucan_ac": "G57776ZU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MFLLVGAPKANTTQPGIVEGGQVLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "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": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "P43406", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P43406#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": "P43406-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Asn755", "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": "IQSSNSFDNVSPVVSYK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 755, "start_aa": "Asn", "end_pos": 755, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn755", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "P43406-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Thr76", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 76, "start_aa": "Thr", "end_pos": 76, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr76", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P43406", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P43406" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "P43406-1", "start_pos": "835", "end_pos": "835", "site_lbl": "Asn835", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G56307ZW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YNNNTLLYILHYDIDGPMNCTADTEINPLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 835, "start_aa": "Asn", "end_pos": 835, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn835", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 835, "start_aa": "Asn", "end_pos": 835, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn835", "evidence": [ { "id": "P43406", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P43406#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P43406-1", "start_pos": "851", "end_pos": "851", "site_lbl": "Asn851", "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": "YNNNTLLYILHYDIDGPMNCTADTEINPLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 851, "start_aa": "Asn", "end_pos": 851, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn851", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 851, "start_aa": "Asn", "end_pos": 851, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn851", "evidence": [ { "id": "P43406", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P43406#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCT->SCT).", "chr_id": "2", "chr_pos": "83626548", "evidence": [ { "id": "rs3388560558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388560558" } ] } ] }, { "uniprot_canonical_ac": "P43406-1", "start_pos": "869", "end_pos": "869", "site_lbl": "Asn869", "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": 869, "start_aa": "Asn", "end_pos": 869, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn869", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 869, "start_aa": "Asn", "end_pos": 869, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn869", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "glytoucan_ac": "G14994KB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 869, "start_aa": "Asn", "end_pos": 869, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn869", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 869, "start_aa": "Asn", "end_pos": 869, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn869", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 869, "start_aa": "Asn", "end_pos": 869, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn869", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 869, "start_aa": "Asn", "end_pos": 869, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn869", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 869, "start_aa": "Asn", "end_pos": 869, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn869", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "glytoucan_ac": "G82347DR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TPEKNDTAAAGQGER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 869, "start_aa": "Asn", "end_pos": 869, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn869", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 869, "start_aa": "Asn", "end_pos": 869, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn869", "evidence": [ { "id": "P43406", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P43406#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": "P43406-1", "start_pos": "941", "end_pos": "941", "site_lbl": "Asn941", "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": 941, "start_aa": "Asn", "end_pos": 941, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn941", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 941, "start_aa": "Asn", "end_pos": 941, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn941", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 941, "start_aa": "Asn", "end_pos": 941, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn941", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ENQNHSYSLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 941, "start_aa": "Asn", "end_pos": 941, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn941", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 941, "start_aa": "Asn", "end_pos": 941, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn941", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 941, "start_aa": "Asn", "end_pos": 941, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn941", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "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": 941, "start_aa": "Asn", "end_pos": 941, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn941", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2402", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2402" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 941, "start_aa": "Asn", "end_pos": 941, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn941", "evidence": [ { "id": "P43406", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P43406#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NHS->KHS).", "chr_id": "2", "chr_pos": "83632336", "evidence": [ { "id": "rs3388564025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388564025" } ] } ] }, { "uniprot_canonical_ac": "P43406-1", "start_pos": "969", "end_pos": "969", "site_lbl": "Asn969", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 969, "start_aa": "Asn", "end_pos": 969, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn969", "evidence": [ { "id": "P43406", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P43406#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P43406-1", "start_pos": "976", "end_pos": "976", "site_lbl": "Asn976", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 976, "start_aa": "Asn", "end_pos": 976, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn976", "evidence": [ { "id": "P43406", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P43406#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P43406-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Arg506", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVR->NVS).", "chr_id": "2", "chr_pos": "83614161", "evidence": [ { "id": "rs3388562977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388562977" } ] } ] }, { "uniprot_canonical_ac": "P43406-1", "start_pos": "853", "end_pos": "853", "site_lbl": "Thr853", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCT->NCM).", "chr_id": "2", "chr_pos": "83626554", "evidence": [ { "id": "rs3388568463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388568463" } ] } ] } ], "record_id": "P43406-1" }, { "uniprot_canonical_ac": "Q9QXK7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QXK7", "url": "https://www.uniprot.org/uniprotkb/Q9QXK7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 684, "chemical_mass": 77505.0, "gene_names": "Cpsf3;Cpsf3;Cpsf73", "protein_name": "Cleavage and polyadenylation specificity factor subunit 3", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9QXK7", "url": "https://www.uniprot.org/uniprotkb/Q9QXK7" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9QXK7", "url": "https://www.uniprot.org/uniprotkb/Q9QXK7" } ], "pmid": "" }, { "name": "RNA endonuclease activity", "id": "GO:0004521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004521", "evidence": [ { "database": "UniProtKB", "id": "Q9QXK7", "url": "https://www.uniprot.org/uniprotkb/Q9QXK7" } ], "pmid": "" }, { "name": "5'-3' RNA exonuclease activity", "id": "GO:0004534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004534", "evidence": [ { "database": "UniProtKB", "id": "Q9QXK7", "url": "https://www.uniprot.org/uniprotkb/Q9QXK7" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9QXK7", "url": "https://www.uniprot.org/uniprotkb/Q9QXK7" } ], "pmid": "" } ], "biological_process": [ { "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": "Q9QXK7", "url": "https://www.uniprot.org/uniprotkb/Q9QXK7" } ], "pmid": "" }, { "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": "Q9QXK7", "url": "https://www.uniprot.org/uniprotkb/Q9QXK7" } ], "pmid": "" }, { "name": "mRNA 3'-end processing", "id": "GO:0031124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031124", "evidence": [ { "database": "UniProtKB", "id": "Q9QXK7", "url": "https://www.uniprot.org/uniprotkb/Q9QXK7" } ], "pmid": "" }, { "name": "co-transcriptional mRNA 3'-end processing, cleavage and polyadenylation pathway", "id": "GO:0180010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0180010", "evidence": [ { "database": "UniProtKB", "id": "Q9QXK7", "url": "https://www.uniprot.org/uniprotkb/Q9QXK7" } ], "pmid": "" } ], "cellular_component": [ { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q9QXK7", "url": "https://www.uniprot.org/uniprotkb/Q9QXK7" } ], "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": "Q9QXK7", "url": "https://www.uniprot.org/uniprotkb/Q9QXK7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QXK7-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Ser659", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXK7", "url": "https://www.uniprot.org/uniprotkb/Q9QXK7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXK7" } ] } ] }, { "uniprot_canonical_ac": "Q9QXK7-1", "start_pos": "681", "end_pos": "681", "site_lbl": "Thr681", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXK7", "url": "https://www.uniprot.org/uniprotkb/Q9QXK7" } ] } ] } ], "record_id": "Q9QXK7-1" }, { "uniprot_canonical_ac": "Q9Z0R4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1714, "chemical_mass": 194297.0, "gene_names": "Itsn1;Ehsh1;Ese1;Itsn1;Itsn;Sh3p17", "protein_name": "Intersectin-1", "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 } ], "biological_process": [ { "name": "positive regulation of caveolin-mediated endocytosis", "id": "GO:2001288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001288", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "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": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "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": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "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": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "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": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "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": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "regulation of postsynapse organization", "id": "GO:0099175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099175", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "clathrin-dependent synaptic vesicle endocytosis", "id": "GO:0150007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150007", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "regulation of signaling", "id": "GO:0023051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023051", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "regulation of cell communication", "id": "GO:0010646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010646", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" } ], "molecular_function": [ { "name": "kinase activator activity", "id": "GO:0019209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019209", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "proline-rich region binding", "id": "GO:0070064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070064", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "calyx of Held", "id": "GO:0044305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044305", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton", "id": "GO:0098871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098871", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "intracellular vesicle", "id": "GO:0097708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097708", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "apical dendrite", "id": "GO:0097440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097440", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "postsynaptic endocytic zone", "id": "GO:0098843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098843", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "presynaptic endocytic zone", "id": "GO:0098833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098833", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Thr348", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 348, "start_aa": "Thr", "end_pos": 348, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr348", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q9Z0R4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "718", "end_pos": "718", "site_lbl": "Thr718", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 718, "start_aa": "Thr", "end_pos": 718, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr718", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9Z0R4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z0R4" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q9Z0R4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Z0R4" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "16", "chr_pos": "91636707", "evidence": [ { "id": "rs265829309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265829309" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "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": "Q9Z0R4-1", "start_pos": "884", "end_pos": "884", "site_lbl": "Ser884", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 884, "start_aa": "Ser", "end_pos": 884, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser884", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9Z0R4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "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" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q9Z0R4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "1130", "end_pos": "1130", "site_lbl": "Ser1130", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" }, { "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": "Q9Z0R4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "1137", "end_pos": "1137", "site_lbl": "Thr1137", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0R4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "1638", "end_pos": "1638", "site_lbl": "Ser1638", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0R4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" }, { "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": "Q9Z0R4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Ser318", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0R4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Ser334", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" }, { "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": "Q9Z0R4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Ser335", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0R4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "685", "end_pos": "685", "site_lbl": "Ser685", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "890", "end_pos": "890", "site_lbl": "Thr890", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0R4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "894", "end_pos": "894", "site_lbl": "Ser894", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "895", "end_pos": "895", "site_lbl": "Ser895", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" }, { "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": "Q9Z0R4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "897", "end_pos": "897", "site_lbl": "Ser897", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" }, { "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": "Q9Z0R4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "971", "end_pos": "971", "site_lbl": "Ser971", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "979", "end_pos": "979", "site_lbl": "Ser979", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "988", "end_pos": "988", "site_lbl": "Ser988", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R4-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Ala162", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "16", "chr_pos": "91598552", "evidence": [ { "id": "rs238282963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238282963" } ] } ] } ], "record_id": "Q9Z0R4-1" }, { "uniprot_canonical_ac": "Q61851-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 801, "chemical_mass": 87758.0, "gene_names": "Fgfr3;Mfr3;Sam3", "protein_name": "Fibroblast growth factor receptor 3", "disease": [ { "disease_id": "DOID:0050736", "name": "autosomal dominant disease", "description": "An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.", "url": "https://disease-ontology.org/term/DOID:0050736", "evidence": [ { "id": "0050736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050736" } ], "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:0050920", "name": "tonsil squamous cell carcinoma", "description": "A tonsil cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050920", "evidence": [ { "id": "0050920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050920" } ], "weight": 0.0 }, { "disease_id": "DOID:0060249", "name": "scoliosis", "description": "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.", "url": "https://disease-ontology.org/term/DOID:0060249", "evidence": [ { "id": "0060249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060249" } ], "weight": 0.0 }, { "disease_id": "DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.", "url": "https://disease-ontology.org/term/DOID:0060703", "evidence": [ { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ], "weight": 0.0 }, { "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:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.", "url": "https://disease-ontology.org/term/DOID:0080041", "evidence": [ { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ], "weight": 0.0 }, { "disease_id": "DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments.", "url": "https://disease-ontology.org/term/DOID:0081371", "evidence": [ { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ], "weight": 0.0 }, { "disease_id": "DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111158", "evidence": [ { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ], "weight": 0.0 }, { "disease_id": "DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111160", "evidence": [ { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ], "weight": 0.0 }, { "disease_id": "DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111161", "evidence": [ { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ], "weight": 0.0 }, { "disease_id": "DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.", "url": "https://disease-ontology.org/term/DOID:0111162", "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ], "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:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.", "url": "https://disease-ontology.org/term/DOID:13481", "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ], "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: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: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: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: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:3138", "name": "acanthosis nigricans", "description": "A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas.", "url": "https://disease-ontology.org/term/DOID:3138", "evidence": [ { "id": "3138", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3138" } ], "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:3965", "name": "Merkel cell carcinoma", "description": "A skin carcinoma that is characterized by the presence of a trabecular glandular architectural pattern.", "url": "https://disease-ontology.org/term/DOID:3965", "evidence": [ { "id": "3965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3965" } ], "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:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.", "url": "https://disease-ontology.org/term/DOID:4480", "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ], "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:8649", "name": "tongue cancer", "description": "", "url": "https://disease-ontology.org/term/DOID:8649", "evidence": [ { "id": "8649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8649" } ], "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": "fibroblast growth factor receptor activity", "id": "GO:0005007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005007", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "miRNA binding", "id": "GO:0035198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035198", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "fibroblast growth factor binding", "id": "GO:0017134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017134", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway", "id": "GO:0090080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090080", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "response to sodium phosphate", "id": "GO:1904383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904383", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "alveolar secondary septum development", "id": "GO:0061144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061144", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "bone trabecula morphogenesis", "id": "GO:0061430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061430", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "central nervous system myelination", "id": "GO:0022010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022010", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "substantia nigra development", "id": "GO:0021762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021762", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of ossification", "id": "GO:0030278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030278", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "negative regulation of mitotic nuclear division", "id": "GO:0045839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045839", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of phospholipase activity", "id": "GO:0010518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010518", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "oligodendrocyte development", "id": "GO:0014003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014003", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "epithelial cell fate commitment", "id": "GO:0072148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072148", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of osteoclast differentiation", "id": "GO:0045670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045670", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "axonogenesis involved in innervation", "id": "GO:0060385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060385", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "lens fiber cell development", "id": "GO:0070307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070307", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "inner ear receptor cell differentiation", "id": "GO:0060113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060113", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "post-anal tail morphogenesis", "id": "GO:0036342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036342", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "negative regulation of smoothened signaling pathway", "id": "GO:0045879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "negative regulation of astrocyte differentiation", "id": "GO:0048712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048712", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "negative regulation of developmental growth", "id": "GO:0048640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048640", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "bone maturation", "id": "GO:0070977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070977", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of cell proliferation in bone marrow", "id": "GO:0071864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071864", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor apoptotic signaling pathway", "id": "GO:1902178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902178", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "p38MAPK cascade", "id": "GO:0038066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038066", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of bone remodeling", "id": "GO:0046850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046850", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of collagen metabolic process", "id": "GO:0010712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010712", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "respiratory system development", "id": "GO:0060541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060541", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of epithelial cell proliferation", "id": "GO:0050678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050678", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "biomineral tissue development", "id": "GO:0031214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031214", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of developmental growth", "id": "GO:0048638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048638", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of cell cycle process", "id": "GO:0010564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010564", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of macromolecule metabolic process", "id": "GO:0010604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010604", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of signaling", "id": "GO:0023056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023056", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "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": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of developmental process", "id": "GO:0051094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051094", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "regulation of primary metabolic process", "id": "GO:0080090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080090", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "positive regulation of cell communication", "id": "GO:0010647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010647", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "transport vesicle", "id": "GO:0030133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030133", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61851-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Thr177", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 177, "start_aa": "Thr", "end_pos": 177, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr177", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Asn219", "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": "GNYTCVVENK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 219, "start_aa": "Asn", "end_pos": 219, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn219", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": "GNYTCVVENK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 219, "start_aa": "Asn", "end_pos": 219, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn219", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 219, "start_aa": "Asn", "end_pos": 219, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn219", "evidence": [ { "id": "Q61851", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61851#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Asn256", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G04657PL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SPHRPILQAGLPANQTAILGSDVEFHCK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 256, "start_aa": "Asn", "end_pos": 256, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn256", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": "SPHRPILQAGLPANQTAILGSDVEFHCK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 256, "start_aa": "Asn", "end_pos": 256, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn256", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 256, "start_aa": "Asn", "end_pos": 256, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn256", "evidence": [ { "id": "Q61851", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61851#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "288", "end_pos": "288", "site_lbl": "Asn288", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q61851", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61851#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Asn309", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q61851", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61851#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Asn322", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 322, "start_aa": "Asn", "end_pos": 322, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn322", "evidence": [ { "id": "Q61851", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61851#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Asn422", "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": "FPLKRQVSLESNSSMNSNTPLVR", "relation": "attached", "comment": "reported site N424 is on non-canonical isoform Q61851-2 which maps to canonical isoform site Q61851-1:422", "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": "Q61851-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Thr67", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 67, "start_aa": "Thr", "end_pos": 67, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr67", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Thr70", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 70, "start_aa": "Thr", "end_pos": 70, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr70", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Asn96", "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": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2313", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2313" } ] }, { "glytoucan_ac": "G20528HD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LQVLNASHEDAGVYSCQHR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": "LQVLNASHEDAGVYSCQHR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2313", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2313" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "Q61851", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61851#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Ser438", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61851", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61851" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Ser439", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61851", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61851" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "641", "end_pos": "641", "site_lbl": "Tyr641", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "642", "end_pos": "642", "site_lbl": "Tyr642", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "719", "end_pos": "719", "site_lbl": "Tyr719", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" }, { "database": "IntAct", "id": "Q61851", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q61851*" }, { "database": "iPTMnet", "id": "Q61851", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61851" }, { "database": "PubMed", "id": "11827956", "url": "https://glygen.org/publication/PubMed/11827956" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Tyr755", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Phe228", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NKF->NKC); glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33887365", "evidence": [ { "id": "rs3388747466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388747466" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Val104", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33887559", "evidence": [ { "id": "rs3388747417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388747417" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Arg113", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33885225", "evidence": [ { "id": "rs256486965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256486965" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Val160", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33887076", "evidence": [ { "id": "rs3395049148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395049148" } ] }, { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33887075", "evidence": [ { "id": "rs3395351693", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395351693" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Phe168", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33887099", "evidence": [ { "id": "rs3388757121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388757121" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Asn175", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33888719", "evidence": [ { "id": "rs3388754804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388754804" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Ser181", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33887138", "evidence": [ { "id": "rs3388752234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388752234" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Ser206", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33887299", "evidence": [ { "id": "rs3388737938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388737938" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Ser20", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33887138", "evidence": [ { "id": "rs3388752234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388752234" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Val224", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33887352", "evidence": [ { "id": "rs3388740624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388740624" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Val265", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33887559", "evidence": [ { "id": "rs3388747417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388747417" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Glu266", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33887563", "evidence": [ { "id": "rs3388749796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388749796" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Leu282", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33887611", "evidence": [ { "id": "rs3388749889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388749889" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Lys313", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33889486", "evidence": [ { "id": "rs3395254369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395254369" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Glu314", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33889489", "evidence": [ { "id": "rs3395395591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395395591" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Leu334", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33889549", "evidence": [ { "id": "rs3388747460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388747460" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Asp361", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33890090", "evidence": [ { "id": "rs3388749854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388749854" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "697", "end_pos": "697", "site_lbl": "Glu697", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33892270", "evidence": [ { "id": "rs3388752266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388752266" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "713", "end_pos": "713", "site_lbl": "Ser713", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33892317", "evidence": [ { "id": "rs3388751177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388751177" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "714", "end_pos": "714", "site_lbl": "Cys714", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33892319", "evidence": [ { "id": "rs3388747796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388747796" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "774", "end_pos": "774", "site_lbl": "Ser774", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33892819", "evidence": [ { "id": "rs3388751224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388751224" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "775", "end_pos": "775", "site_lbl": "Ser775", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33892819", "evidence": [ { "id": "rs3388751224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388751224" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "780", "end_pos": "780", "site_lbl": "Asp780", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33892837", "evidence": [ { "id": "rs3388752219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388752219" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "781", "end_pos": "781", "site_lbl": "Asp781", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33892837", "evidence": [ { "id": "rs3388752219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388752219" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Val9", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "5", "chr_pos": "33879777", "evidence": [ { "id": "rs3388761083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388761083" } ] } ] }, { "uniprot_canonical_ac": "Q61851-1", "start_pos": "644", "end_pos": "644", "site_lbl": "Lys644", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Constitutively activated kinase.", "evidence": [ { "database": "UniProtKB", "id": "Q61851", "url": "https://www.uniprot.org/uniprotkb/Q61851" }, { "database": "PubMed", "id": "14699054", "url": "https://glygen.org/publication/PubMed/14699054" } ] } ] } ], "record_id": "Q61851-1" }, { "uniprot_canonical_ac": "O89053-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 461, "chemical_mass": 50989.0, "gene_names": "Coro1a;Clabp;Coro1a;Coro1;Lmb3;TACO;p57", "protein_name": "Coronin-1A", "disease": [ { "disease_id": "DOID:0060019", "name": "coronin-1A deficiency", "description": "A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs.", "url": "https://disease-ontology.org/term/DOID:0060019", "evidence": [ { "id": "0060019", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060019" } ], "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:0090014", "name": "severe combined immunodeficiency 104", "description": "A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13.", "url": "https://disease-ontology.org/term/DOID:0090014", "evidence": [ { "id": "0090014", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090014" } ], "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": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "phagocytic cup", "id": "GO:0001891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001891", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton", "id": "GO:0030864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030864", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "stereocilium tip", "id": "GO:0032426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032426", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "immunological synapse", "id": "GO:0001772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001772", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of actin polymerization or depolymerization", "id": "GO:0008064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008064", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "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": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "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": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "T cell homeostasis", "id": "GO:0043029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043029", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "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": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "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": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "cell-substrate adhesion", "id": "GO:0031589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031589", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "positive chemotaxis", "id": "GO:0050918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050918", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "negative regulation of actin nucleation", "id": "GO:0051126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051126", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "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": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "cellular response to interleukin-4", "id": "GO:0071353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071353", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "regulation of actin filament polymerization", "id": "GO:0030833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030833", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "leukocyte chemotaxis", "id": "GO:0030595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030595", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "phagolysosome assembly", "id": "GO:0001845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001845", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "negative regulation of vesicle fusion", "id": "GO:0031339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031339", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "uropod organization", "id": "GO:0032796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032796", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "nerve growth factor signaling pathway", "id": "GO:0038180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038180", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "natural killer cell degranulation", "id": "GO:0043320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043320", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "early endosome to recycling endosome transport", "id": "GO:0061502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061502", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "actin monomer binding", "id": "GO:0003785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003785", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "myosin heavy chain binding", "id": "GO:0032036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032036", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase binding", "id": "GO:0043548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043548", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O89053-1", "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": "O89053-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" }, { "database": "iPTMnet", "id": "O89053", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O89053" }, { "database": "PubMed", "id": "21844203", "url": "https://glygen.org/publication/PubMed/21844203" } ] } ] }, { "uniprot_canonical_ac": "O89053-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Ser412", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" }, { "database": "iPTMnet", "id": "O89053", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O89053" }, { "database": "PubMed", "id": "23100250", "url": "https://glygen.org/publication/PubMed/23100250" } ] } ] }, { "uniprot_canonical_ac": "O89053-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Thr418", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" }, { "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": "O89053", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O89053" }, { "database": "PubMed", "id": "20937706", "url": "https://glygen.org/publication/PubMed/20937706" } ] } ] }, { "uniprot_canonical_ac": "O89053-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Ser422", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O89053", "url": "https://www.uniprot.org/uniprotkb/O89053" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O89053", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O89053" } ] } ] } ], "record_id": "O89053-1" }, { "uniprot_canonical_ac": "O35491-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 499, "chemical_mass": 59987.0, "gene_names": "Clk2;Clk2", "protein_name": "Dual specificity protein kinase CLK2", "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": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "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": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "pmid": "" } ], "biological_process": [ { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "pmid": "" }, { "name": "regulation of RNA splicing", "id": "GO:0043484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043484", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "pmid": "" }, { "name": "negative regulation of gluconeogenesis", "id": "GO:0045721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045721", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35491-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ser34", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 34, "start_aa": "Ser", "end_pos": 34, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser34", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "O35491", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35491" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ] } ] }, { "uniprot_canonical_ac": "O35491-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Thr127", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ] } ] }, { "uniprot_canonical_ac": "O35491-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Ser141", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "O35491-1", "kinase_gene_name": "Clk2", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" }, { "database": "iPTMnet", "id": "O35491", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35491" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" }, { "database": "iPTMnet", "id": "O35491", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35491" }, { "database": "PubMed", "id": "9852100", "url": "https://glygen.org/publication/PubMed/9852100" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" }, { "database": "PubMed", "id": "9852100", "url": "https://glygen.org/publication/PubMed/9852100" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Loss of phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" }, { "database": "PubMed", "id": "9852100", "url": "https://glygen.org/publication/PubMed/9852100" } ] } ] }, { "uniprot_canonical_ac": "O35491-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Tyr152", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ] } ] }, { "uniprot_canonical_ac": "O35491-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Thr343", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" }, { "database": "iPTMnet", "id": "O35491", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35491" }, { "database": "PubMed", "id": "20074525", "url": "https://glygen.org/publication/PubMed/20074525" } ] } ] }, { "uniprot_canonical_ac": "O35491-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Ser98", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "O35491-1", "kinase_gene_name": "Clk2", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" }, { "database": "iPTMnet", "id": "O35491", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35491" }, { "database": "PubMed", "id": "20074525", "url": "https://glygen.org/publication/PubMed/20074525" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ] } ] }, { "uniprot_canonical_ac": "O35491-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Tyr99", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "O35491-1", "kinase_gene_name": "Clk2", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" }, { "database": "iPTMnet", "id": "O35491", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35491" }, { "database": "PubMed", "id": "20074525", "url": "https://glygen.org/publication/PubMed/20074525" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35491", "url": "https://www.uniprot.org/uniprotkb/O35491" } ] } ] } ], "record_id": "O35491-1" }, { "uniprot_canonical_ac": "A0A571BFV9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A571BFV9", "url": "https://www.uniprot.org/uniprotkb/A0A571BFV9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 146, "chemical_mass": 17313.0, "gene_names": "Iqcf6;100041096;Iqcf6", "protein_name": "", "disease": [], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "A0A571BFV9", "url": "https://www.uniprot.org/uniprotkb/A0A571BFV9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A571BFV9-1" }, { "uniprot_canonical_ac": "O70552-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70552", "url": "https://www.uniprot.org/uniprotkb/O70552" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 250, "chemical_mass": 28613.0, "gene_names": "Btg4;Btg4;PC3B;Pc3b", "protein_name": "Protein BTG4", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O70552", "url": "https://www.uniprot.org/uniprotkb/O70552" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O70552", "url": "https://www.uniprot.org/uniprotkb/O70552" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O70552", "url": "https://www.uniprot.org/uniprotkb/O70552" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of mitotic cell cycle", "id": "GO:0045930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045930", "evidence": [ { "database": "UniProtKB", "id": "O70552", "url": "https://www.uniprot.org/uniprotkb/O70552" } ], "pmid": "" }, { "name": "maternal-to-zygotic transition of gene expression", "id": "GO:0160021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160021", "evidence": [ { "database": "UniProtKB", "id": "O70552", "url": "https://www.uniprot.org/uniprotkb/O70552" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "O70552", "url": "https://www.uniprot.org/uniprotkb/O70552" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O70552-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Glu100", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "No effect on interaction with CNOT7.", "evidence": [ { "database": "UniProtKB", "id": "O70552", "url": "https://www.uniprot.org/uniprotkb/O70552" }, { "database": "PubMed", "id": "27065194", "url": "https://glygen.org/publication/PubMed/27065194" } ] } ] }, { "uniprot_canonical_ac": "O70552-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Glu107", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Loss of interaction with CNOT7.", "evidence": [ { "database": "UniProtKB", "id": "O70552", "url": "https://www.uniprot.org/uniprotkb/O70552" }, { "database": "PubMed", "id": "27065194", "url": "https://glygen.org/publication/PubMed/27065194" } ] } ] }, { "uniprot_canonical_ac": "O70552-1", "start_pos": "45", "end_pos": "45", "site_lbl": "His45", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of interaction with CNOT7.", "evidence": [ { "database": "UniProtKB", "id": "O70552", "url": "https://www.uniprot.org/uniprotkb/O70552" }, { "database": "PubMed", "id": "27065194", "url": "https://glygen.org/publication/PubMed/27065194" } ] } ] }, { "uniprot_canonical_ac": "O70552-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Trp46", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Loss of interaction with CNOT7.", "evidence": [ { "database": "UniProtKB", "id": "O70552", "url": "https://www.uniprot.org/uniprotkb/O70552" }, { "database": "PubMed", "id": "27065194", "url": "https://glygen.org/publication/PubMed/27065194" } ] } ] }, { "uniprot_canonical_ac": "O70552-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Pro51", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "No effect on interaction with CNOT7.", "evidence": [ { "database": "UniProtKB", "id": "O70552", "url": "https://www.uniprot.org/uniprotkb/O70552" }, { "database": "PubMed", "id": "27065194", "url": "https://glygen.org/publication/PubMed/27065194" } ] } ] }, { "uniprot_canonical_ac": "O70552-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Arg58", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of interaction with CNOT7.", "evidence": [ { "database": "UniProtKB", "id": "O70552", "url": "https://www.uniprot.org/uniprotkb/O70552" }, { "database": "PubMed", "id": "27065194", "url": "https://glygen.org/publication/PubMed/27065194" } ] } ] }, { "uniprot_canonical_ac": "O70552-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Cys59", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of interaction with CNOT7.", "evidence": [ { "database": "UniProtKB", "id": "O70552", "url": "https://www.uniprot.org/uniprotkb/O70552" }, { "database": "PubMed", "id": "27065194", "url": "https://glygen.org/publication/PubMed/27065194" } ] } ] }, { "uniprot_canonical_ac": "O70552-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Asp69", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of interaction with CNOT7.", "evidence": [ { "database": "UniProtKB", "id": "O70552", "url": "https://www.uniprot.org/uniprotkb/O70552" }, { "database": "PubMed", "id": "27065194", "url": "https://glygen.org/publication/PubMed/27065194" } ] } ] }, { "uniprot_canonical_ac": "O70552-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Trp95", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Loss of interaction with CNOT7 and CNOT8. No effect on interaction with EIF4E.", "evidence": [ { "database": "UniProtKB", "id": "O70552", "url": "https://www.uniprot.org/uniprotkb/O70552" }, { "database": "PubMed", "id": "27065194", "url": "https://glygen.org/publication/PubMed/27065194" } ] } ] } ], "record_id": "O70552-1" }, { "uniprot_canonical_ac": "P62812-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 455, "chemical_mass": 51754.0, "gene_names": "Gabra1;GABAA-alpha1;GABAAR-alpha1;Gabra-1;Gabra1", "protein_name": "Gamma-aminobutyric acid receptor subunit alpha-1", "disease": [ { "disease_id": "DOID:0080431", "name": "developmental and epileptic encephalopathy 19", "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34.", "url": "https://disease-ontology.org/term/DOID:0080431", "evidence": [ { "id": "0080431", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080431" } ], "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:1827", "name": "generalized epilepsy", "description": "An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.", "url": "https://disease-ontology.org/term/DOID:1827", "evidence": [ { "id": "1827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1827" } ], "weight": 0.0 }, { "disease_id": "DOID:7725", "name": "epilepsy with generalized tonic-clonic seizures", "description": "An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type.", "url": "https://disease-ontology.org/term/DOID:7725", "evidence": [ { "id": "7725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7725" } ], "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": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" }, { "name": "GABA receptor complex", "id": "GO:1902710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902710", "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" }, { "name": "GABA-A receptor complex", "id": "GO:1902711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902711", "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" }, { "name": "postsynaptic specialization membrane", "id": "GO:0099634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099634", "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "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": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" }, { "name": "cellular response to histamine", "id": "GO:0071420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071420", "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" }, { "name": "synaptic transmission, GABAergic", "id": "GO:0051932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051932", "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" }, { "name": "inhibitory synapse assembly", "id": "GO:1904862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904862", "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" } ], "molecular_function": [ { "name": "diazepam binding", "id": "GO:0050809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050809", "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" }, { "name": "GABA-A receptor activity", "id": "GO:0004890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004890", "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "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": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "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": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "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": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "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": "P62812", "url": "https://www.uniprot.org/uniprotkb/P62812" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P62812-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Asn137", "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": 137, "start_aa": "Asn", "end_pos": 137, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn137", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2320", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2320" } ] }, { "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": 137, "start_aa": "Asn", "end_pos": 137, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn137", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2320", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2320" } ] }, { "glytoucan_ac": "G07617FP", "type": "N-linked", "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=8FOI&bu=0&command=select+.A:110;+center+selection;+zoom+selection" }, "start_pos": 137, "start_aa": "Asn", "end_pos": 137, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn137", "evidence": [ { "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": "8FOI|A|110", "database": "", "url": "" }, { "id": "8G4N|A|110", "database": "", "url": "" }, { "id": "8G4O|A|110", "database": "", "url": "" }, { "id": "8G4X|A|110", "database": "", "url": "" }, { "id": "8G5G|A|110", "database": "", "url": "" } ] }, { "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=8FOI&bu=0&command=select+.C:110;+center+selection;+zoom+selection" }, "start_pos": 137, "start_aa": "Asn", "end_pos": 137, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn137", "evidence": [ { "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": "8G5H", "database": "PDB", "url": "https://www.rcsb.org/structure/8G5H" }, { "id": "8G5H", "database": "PDB", "url": "https://www.rcsb.org/structure/8G5H" }, { "id": "8FOI|C|110", "database": "", "url": "" }, { "id": "8G4N|C|110", "database": "", "url": "" }, { "id": "8G4O|C|110", "database": "", "url": "" }, { "id": "8G5H|C|110", "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": 137, "start_aa": "Asn", "end_pos": 137, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn137", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2320", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2320" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SVAHNMTMPNK", "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" } ] }, { "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": 137, "start_aa": "Asn", "end_pos": 137, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn137", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2320", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2320" } ] }, { "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": 137, "start_aa": "Asn", "end_pos": 137, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn137", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2320", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2320" } ] }, { "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": 137, "start_aa": "Asn", "end_pos": 137, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn137", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2320", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2320" } ] }, { "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": 137, "start_aa": "Asn", "end_pos": 137, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn137", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2320", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2320" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "P62812", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P62812#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P62812-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Asn37", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 37, "start_aa": "Asn", "end_pos": 37, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn37", "evidence": [ { "id": "P62812", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P62812#ptm_processing" } ] } ] } ], "record_id": "P62812-1" }, { "uniprot_canonical_ac": "Q6A078-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2472, "chemical_mass": 289077.0, "gene_names": "Cep290;Cep290;Kiaa0373;Nphp6;b2b1454Clo;b2b1752Clo", "protein_name": "Centrosomal protein of 290 kDa", "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: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: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:0070118", "name": "Meckel syndrome 4", "description": "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32.", "url": "https://disease-ontology.org/term/DOID:0070118", "evidence": [ { "id": "0070118", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070118" } ], "weight": 0.0 }, { "disease_id": "DOID:0110136", "name": "Bardet-Biedl syndrome 14", "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21.", "url": "https://disease-ontology.org/term/DOID:0110136", "evidence": [ { "id": "0110136", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110136" } ], "weight": 0.0 }, { "disease_id": "DOID:0110291", "name": "Leber congenital amaurosis 10", "description": "A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32.", "url": "https://disease-ontology.org/term/DOID:0110291", "evidence": [ { "id": "0110291", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110291" } ], "weight": 0.0 }, { "disease_id": "DOID:0111000", "name": "Joubert syndrome 5", "description": "A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.", "url": "https://disease-ontology.org/term/DOID:0111000", "evidence": [ { "id": "0111000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111000" } ], "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:2975", "name": "cystic kidney disease", "description": "A kidney disease that is characterized by the formation of cysts (fluid-filled sacs) in and around the kidney.", "url": "https://disease-ontology.org/term/DOID:2975", "evidence": [ { "id": "2975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2975" } ], "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 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "MKS complex", "id": "GO:0036038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036038", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "photoreceptor connecting cilium", "id": "GO:0032391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032391", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "photoreceptor distal connecting cilium", "id": "GO:0120206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120206", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "rod photoreceptor outer segment", "id": "GO:0120200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120200", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "photoreceptor proximal connecting cilium", "id": "GO:0120205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120205", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "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": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "ciliary basal body-plasma membrane docking", "id": "GO:0097711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097711", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "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": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "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": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "hindbrain development", "id": "GO:0030902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030902", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "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": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "eye photoreceptor cell development", "id": "GO:0042462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042462", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "ciliary transition zone assembly", "id": "GO:1905349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905349", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "otic vesicle formation", "id": "GO:0030916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030916", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "pronephros development", "id": "GO:0048793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048793", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "regulation of establishment of protein localization", "id": "GO:0070201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070201", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6A078-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Ser692", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 692, "start_aa": "Ser", "end_pos": 692, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser692", "evidence": [ { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "Q6A078", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6A078" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ] }, { "uniprot_canonical_ac": "Q6A078-1", "start_pos": "597", "end_pos": "597", "site_lbl": "Asn597", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NMN->NMS).", "chr_id": "10", "chr_pos": "100348245", "evidence": [ { "id": "rs3548354602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3548354602" } ] } ] }, { "uniprot_canonical_ac": "Q6A078-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Trp7", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Centrosomal localization retained.", "evidence": [ { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprotkb/Q6A078" }, { "database": "PubMed", "id": "16682970", "url": "https://glygen.org/publication/PubMed/16682970" } ] } ] } ], "record_id": "Q6A078-1" }, { "uniprot_canonical_ac": "P59242-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1191, "chemical_mass": 136447.0, "gene_names": "Cgn;Kiaa1319", "protein_name": "Cingulin", "disease": [], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ], "pmid": "" }, { "name": "apical junction complex", "id": "GO:0043296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043296", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ], "pmid": "" } ], "biological_process": [ { "name": "bicellular tight junction assembly", "id": "GO:0070830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070830", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ], "pmid": "" }, { "name": "epithelial cell morphogenesis", "id": "GO:0003382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003382", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P59242-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Thr108", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 108, "start_aa": "Thr", "end_pos": 108, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr108", "evidence": [ { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "P59242", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P59242" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "1163", "end_pos": "1163", "site_lbl": "Ser1163", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "1164", "end_pos": "1164", "site_lbl": "Ser1164", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Ser129", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P59242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Ser131", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P59242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Ser134", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" }, { "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": "P59242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ser149", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Ser159", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Ser208", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Ser211", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Ser250", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Ser268", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Ser326", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" }, { "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": "P59242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Ser339", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P59242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Ser448", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P59242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Ser84", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" }, { "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": "P59242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ser89", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P59242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Ser90", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P59242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Ser92", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P59242", "url": "https://www.uniprot.org/uniprotkb/P59242" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "P59242", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P59242" } ] } ] }, { "uniprot_canonical_ac": "P59242-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Lys248", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KQS->NQS).", "chr_id": "3", "chr_pos": "94686554", "evidence": [ { "id": "rs3388634522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388634522" } ] } ] } ], "record_id": "P59242-1" }, { "uniprot_canonical_ac": "B9EHT4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 547, "chemical_mass": 59587.0, "gene_names": "Clip3;1500005P14Rik;Clip3;Clipr-59;Clipr59", "protein_name": "CAP-Gly domain-containing linker protein 3", "disease": [], "biological_process": [ { "name": "protein transport along microtubule", "id": "GO:0098840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098840", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "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": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "positive regulation of D-glucose transmembrane transport", "id": "GO:0010828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010828", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "cytoplasmic microtubule organization", "id": "GO:0031122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "peptidyl-L-cysteine S-palmitoylation", "id": "GO:0018230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018230", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "negative regulation of microtubule polymerization", "id": "GO:0031115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031115", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "membrane biogenesis", "id": "GO:0044091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044091", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "Golgi stack", "id": "GO:0005795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005795", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "microtubule plus-end", "id": "GO:0035371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035371", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "microtubule plus-end binding", "id": "GO:0051010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051010", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" }, { "name": "ganglioside binding", "id": "GO:0035594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035594", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B9EHT4-1", "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": "B9EHT4-1", "start_pos": "374", "end_pos": "374", "site_lbl": "Thr374", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B9EHT4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B9EHT4" } ] } ] }, { "uniprot_canonical_ac": "B9EHT4-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Ser399", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B9EHT4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B9EHT4" } ] } ] }, { "uniprot_canonical_ac": "B9EHT4-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Ser401", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B9EHT4", "url": "https://www.uniprot.org/uniprotkb/B9EHT4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B9EHT4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B9EHT4" } ] } ] } ], "record_id": "B9EHT4-1" }, { "uniprot_canonical_ac": "Q8BS45-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 554, "chemical_mass": 64151.0, "gene_names": "Ift56;9330141E21Rik;9430097H08Rik;Hop;Ift56;Ttc26;hop;hpy", "protein_name": "Intraflagellar transport protein 56", "disease": [], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" }, { "name": "intraciliary transport particle A", "id": "GO:0030991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030991", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" }, { "name": "intraciliary transport particle B", "id": "GO:0030992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030992", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "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": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" }, { "name": "intraciliary transport", "id": "GO:0042073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042073", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" }, { "name": "protein localization to cilium", "id": "GO:0061512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061512", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" }, { "name": "axoneme assembly", "id": "GO:0035082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035082", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" }, { "name": "intraciliary anterograde transport", "id": "GO:0035720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035720", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" }, { "name": "photoreceptor cell differentiation", "id": "GO:0046530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046530", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" }, { "name": "photoreceptor cell morphogenesis", "id": "GO:0008594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008594", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" }, { "name": "manchette assembly", "id": "GO:1905198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905198", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" } ], "molecular_function": [ { "name": "intraciliary transport particle B binding", "id": "GO:0120170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120170", "evidence": [ { "database": "UniProtKB", "id": "Q8BS45", "url": "https://www.uniprot.org/uniprotkb/Q8BS45" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BS45-1" }, { "uniprot_canonical_ac": "P58462-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 705, "chemical_mass": 78833.0, "gene_names": "Foxp1;3110052D19Rik;4932443N09Rik;Foxp1", "protein_name": "Forkhead box protein P1", "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:0090131", "name": "complex cortical dysplasia with other brain malformations", "description": "A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations.", "url": "https://disease-ontology.org/term/DOID:0090131", "evidence": [ { "id": "0090131", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090131" } ], "weight": 0.0 }, { "disease_id": "DOID:0111331", "name": "intellectual disability-severe speech delay-mild dysmorphism syndrome", "description": "A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13.", "url": "https://disease-ontology.org/term/DOID:0111331", "evidence": [ { "id": "0111331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111331" } ], "weight": 0.0 }, { "disease_id": "DOID:1255", "name": "trichostrongyloidiasis", "description": "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea.", "url": "https://disease-ontology.org/term/DOID:1255", "evidence": [ { "id": "1255", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1255" } ], "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: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: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: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: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: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: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: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: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": "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "osteoclast differentiation", "id": "GO:0030316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030316", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "positive regulation of hydrogen peroxide-mediated programmed cell death", "id": "GO:1901300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901300", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "monocyte activation", "id": "GO:0042117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042117", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of interleukin-12 production", "id": "GO:0032655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032655", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "osteoclast development", "id": "GO:0036035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036035", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "endothelial cell activation", "id": "GO:0042118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042118", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of androgen receptor signaling pathway", "id": "GO:0060765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060765", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of endothelial tube morphogenesis", "id": "GO:1901509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901509", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "pre-B cell differentiation", "id": "GO:0002329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002329", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "cellular response to ionomycin", "id": "GO:1904637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904637", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of chemokine (C-X-C motif) ligand 2 production", "id": "GO:2000341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000341", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "negative regulation of B cell apoptotic process", "id": "GO:0002903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002903", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "macrophage activation", "id": "GO:0042116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042116", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "smooth muscle tissue development", "id": "GO:0048745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048745", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "positive regulation of B cell receptor signaling pathway", "id": "GO:0050861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050861", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of monocyte differentiation", "id": "GO:0045655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045655", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of defense response to bacterium", "id": "GO:1900424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900424", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of macrophage colony-stimulating factor production", "id": "GO:1901256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901256", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "positive regulation of immunoglobulin production", "id": "GO:0002639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002639", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "ventral spinal cord development", "id": "GO:0021517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021517", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "immunoglobulin V(D)J recombination", "id": "GO:0033152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033152", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "lung secretory cell differentiation", "id": "GO:0061140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061140", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "T follicular helper cell differentiation", "id": "GO:0061470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061470", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "negative regulation of lung goblet cell differentiation", "id": "GO:1901250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901250", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "regulation of lung goblet cell differentiation", "id": "GO:1901249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901249", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "positive regulation of interleukin-21 production", "id": "GO:0032745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032745", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "lung epithelium development", "id": "GO:0060428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060428", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "striatum development", "id": "GO:0021756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021756", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "nuclear androgen receptor binding", "id": "GO:0050681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050681", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P58462-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Ser430", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 430, "start_aa": "Ser", "end_pos": 430, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser430", "evidence": [ { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "P58462", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P58462" }, { "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": "P58462-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Thr439", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 439, "start_aa": "Thr", "end_pos": 439, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr439", "evidence": [ { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "P58462", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P58462" }, { "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": "P58462-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Thr443", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 443, "start_aa": "Thr", "end_pos": 443, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr443", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P58462", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P58462" } ] } ] }, { "uniprot_canonical_ac": "P58462-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Thr446", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 446, "start_aa": "Thr", "end_pos": 446, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr446", "evidence": [ { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "P58462", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P58462" }, { "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": "P58462", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P58462" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "P58462-1", "start_pos": "468", "end_pos": "468", "site_lbl": "Ser468", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 468, "start_aa": "Ser", "end_pos": 468, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser468", "evidence": [ { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "P58462", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P58462" }, { "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": "P58462-1", "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": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "P58462", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P58462" }, { "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": "P58462", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P58462" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "P58462-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Ser113", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ] } ] }, { "uniprot_canonical_ac": "P58462-1", "start_pos": "681", "end_pos": "681", "site_lbl": "Thr681", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ] } ] }, { "uniprot_canonical_ac": "P58462-1", "start_pos": "686", "end_pos": "686", "site_lbl": "Ser686", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" } ] } ] }, { "uniprot_canonical_ac": "P58462-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Glu388", "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": "P58462", "url": "https://www.uniprot.org/uniprotkb/P58462" }, { "database": "PubMed", "id": "14701752", "url": "https://glygen.org/publication/PubMed/14701752" } ] } ] } ], "record_id": "P58462-1" }, { "uniprot_canonical_ac": "O35161-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 3034, "chemical_mass": 330471.0, "gene_names": "Celsr1;Adgrc1;Celsr1;Crsh;Scy;crash", "protein_name": "Cadherin EGF LAG seven-pass G-type receptor 1", "disease": [ { "disease_id": "DOID:0050468", "name": "yellow nail syndrome", "description": "A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached.", "url": "https://disease-ontology.org/term/DOID:0050468", "evidence": [ { "id": "0050468", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050468" } ], "weight": 0.0 }, { "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 } ], "biological_process": [ { "name": "motor neuron migration", "id": "GO:0097475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097475", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "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": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "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": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "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": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "establishment of planar polarity", "id": "GO:0001736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001736", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "establishment of planar polarity of embryonic epithelium", "id": "GO:0042249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042249", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis", "id": "GO:0060488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060488", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "planar dichotomous subdivision of terminal units involved in lung branching morphogenesis", "id": "GO:0060489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060489", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "lateral sprouting involved in lung morphogenesis", "id": "GO:0060490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060490", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "protein localization involved in establishment of planar polarity", "id": "GO:0090251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090251", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "apical protein localization", "id": "GO:0045176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045176", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "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": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35161-1", "start_pos": "1129", "end_pos": "1129", "site_lbl": "Asn1129", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1129, "start_aa": "Asn", "end_pos": 1129, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1129", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "1154", "end_pos": "1154", "site_lbl": "Asn1154", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1154, "start_aa": "Asn", "end_pos": 1154, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1154", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "1228", "end_pos": "1228", "site_lbl": "Asn1228", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1228, "start_aa": "Asn", "end_pos": 1228, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1228", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "1264", "end_pos": "1264", "site_lbl": "Asn1264", "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=8VY2&bu=0&command=select+.A:1264;+center+selection;+zoom+selection" }, "start_pos": 1264, "start_aa": "Asn", "end_pos": 1264, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1264", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" }, { "id": "8VY2", "database": "PDB", "url": "https://www.rcsb.org/structure/8VY2" }, { "id": "8VY2", "database": "PDB", "url": "https://www.rcsb.org/structure/8VY2" }, { "id": "8VY2|A|1264", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "1274", "end_pos": "1274", "site_lbl": "Asn1274", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1274, "start_aa": "Asn", "end_pos": 1274, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1274", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "1302", "end_pos": "1302", "site_lbl": "Asn1302", "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": "FFPSEDLQEQIYLNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1302, "start_aa": "Asn", "end_pos": 1302, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1302", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 1302, "start_aa": "Asn", "end_pos": 1302, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1302", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "1591", "end_pos": "1591", "site_lbl": "Asn1591", "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=8VY2&bu=0&command=select+.A:1591;+center+selection;+zoom+selection" }, "start_pos": 1591, "start_aa": "Asn", "end_pos": 1591, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1591", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" }, { "id": "8VY2", "database": "PDB", "url": "https://www.rcsb.org/structure/8VY2" }, { "id": "8VY2", "database": "PDB", "url": "https://www.rcsb.org/structure/8VY2" }, { "id": "8VY2|A|1591", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "1638", "end_pos": "1638", "site_lbl": "Asn1638", "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": "NLSIDGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1638, "start_aa": "Asn", "end_pos": 1638, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1638", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 1638, "start_aa": "Asn", "end_pos": 1638, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1638", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "1655", "end_pos": "1655", "site_lbl": "Asn1655", "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": "IVDMAAFIANNGTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1655, "start_aa": "Asn", "end_pos": 1655, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1655", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 1655, "start_aa": "Asn", "end_pos": 1655, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1655", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "1994", "end_pos": "1994", "site_lbl": "Asn1994", "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=8VY2&bu=0&command=select+.A:1994;+center+selection;+zoom+selection" }, "start_pos": 1994, "start_aa": "Asn", "end_pos": 1994, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1994", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" }, { "id": "8VY2", "database": "PDB", "url": "https://www.rcsb.org/structure/8VY2" }, { "id": "8VY2", "database": "PDB", "url": "https://www.rcsb.org/structure/8VY2" }, { "id": "8VY2|A|1994", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "2118", "end_pos": "2118", "site_lbl": "Asn2118", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2118, "start_aa": "Asn", "end_pos": 2118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2118", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "2137", "end_pos": "2137", "site_lbl": "Asn2137", "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=8VY2&bu=0&command=select+.A:2137;+center+selection;+zoom+selection" }, "start_pos": 2137, "start_aa": "Asn", "end_pos": 2137, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2137", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" }, { "id": "8VY2", "database": "PDB", "url": "https://www.rcsb.org/structure/8VY2" }, { "id": "8VY2", "database": "PDB", "url": "https://www.rcsb.org/structure/8VY2" }, { "id": "8VY2|A|2137", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "2144", "end_pos": "2144", "site_lbl": "Asn2144", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2144, "start_aa": "Asn", "end_pos": 2144, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2144", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "2155", "end_pos": "2155", "site_lbl": "Asn2155", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G99679NM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ALRNATQGNSTLFGNDVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2155, "start_aa": "Asn", "end_pos": 2155, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2155", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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=8VY2&bu=0&command=select+.A:2155;+center+selection;+zoom+selection" }, "start_pos": 2155, "start_aa": "Asn", "end_pos": 2155, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2155", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" }, { "id": "8VY2", "database": "PDB", "url": "https://www.rcsb.org/structure/8VY2" }, { "id": "8VY2", "database": "PDB", "url": "https://www.rcsb.org/structure/8VY2" }, { "id": "8VY2|A|2155", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "2160", "end_pos": "2160", "site_lbl": "Asn2160", "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=8VY2&bu=0&command=select+.A:2160;+center+selection;+zoom+selection" }, "start_pos": 2160, "start_aa": "Asn", "end_pos": 2160, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2160", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" }, { "id": "8VY2", "database": "PDB", "url": "https://www.rcsb.org/structure/8VY2" }, { "id": "8VY2", "database": "PDB", "url": "https://www.rcsb.org/structure/8VY2" }, { "id": "8VY2|A|2160", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Thr223", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 223, "start_aa": "Thr", "end_pos": 223, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr223", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "2272", "end_pos": "2272", "site_lbl": "Asn2272", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2272, "start_aa": "Asn", "end_pos": 2272, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2272", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "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": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "2430", "end_pos": "2430", "site_lbl": "Asn2430", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2430, "start_aa": "Asn", "end_pos": 2430, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2430", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "2452", "end_pos": "2452", "site_lbl": "Asn2452", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2452, "start_aa": "Asn", "end_pos": 2452, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2452", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "2538", "end_pos": "2538", "site_lbl": "Asn2538", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2538, "start_aa": "Asn", "end_pos": 2538, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2538", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "2773", "end_pos": "2773", "site_lbl": "Ser2773", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2773, "start_aa": "Ser", "end_pos": 2773, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2773", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "O35161", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35161" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "O35161", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35161" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "2774", "end_pos": "2774", "site_lbl": "Thr2774", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2774, "start_aa": "Thr", "end_pos": 2774, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2774", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "O35161", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35161" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "O35161", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35161" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "2780", "end_pos": "2780", "site_lbl": "Thr2780", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2780, "start_aa": "Thr", "end_pos": 2780, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2780", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "O35161", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35161" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "O35161", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35161" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "2781", "end_pos": "2781", "site_lbl": "Thr2781", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2781, "start_aa": "Thr", "end_pos": 2781, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2781", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "O35161", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35161" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "O35161", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O35161" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "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": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "O35161", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O35161" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Asn561", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 561, "start_aa": "Asn", "end_pos": 561, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn561", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Asn649", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "793", "end_pos": "793", "site_lbl": "Asn793", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G28077HW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SHTAQVFINVTDANTHR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 793, "start_aa": "Asn", "end_pos": 793, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn793", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 793, "start_aa": "Asn", "end_pos": 793, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn793", "evidence": [ { "id": "O35161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35161#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "961", "end_pos": "961", "site_lbl": "Thr961", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 961, "start_aa": "Thr", "end_pos": 961, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr961", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "2776", "end_pos": "2776", "site_lbl": "Ser2776", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35161", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35161" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "2779", "end_pos": "2779", "site_lbl": "Ser2779", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "2886", "end_pos": "2886", "site_lbl": "Ser2886", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35161", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35161" } ] } ] }, { "uniprot_canonical_ac": "O35161-1", "start_pos": "2888", "end_pos": "2888", "site_lbl": "Ser2888", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35161", "url": "https://www.uniprot.org/uniprotkb/O35161" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35161", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35161" } ] } ] } ], "record_id": "O35161-1" }, { "uniprot_canonical_ac": "Q3UMW8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 341, "chemical_mass": 39329.0, "gene_names": "Cln5;A730075N08Rik;Bmps;Cln5", "protein_name": "Bis(monoacylglycero)phosphate synthase CLN5", "disease": [ { "disease_id": "DOID:0110728", "name": "neuronal ceroid lipofuscinosis 5", "description": "A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22.", "url": "https://disease-ontology.org/term/DOID:0110728", "evidence": [ { "id": "0110728", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110728" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" }, { "name": "vacuolar lumen", "id": "GO:0005775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005775", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" } ], "biological_process": [ { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" }, { "name": "retrograde transport, endosome to Golgi", "id": "GO:0042147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042147", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" }, { "name": "lysosomal lumen acidification", "id": "GO:0007042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007042", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" }, { "name": "signal peptide processing", "id": "GO:0006465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006465", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" } ], "molecular_function": [ { "name": "D-mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "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": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" }, { "name": "palmitoyl-(protein) hydrolase activity", "id": "GO:0008474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008474", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "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": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" }, { "name": "bis(monoacylglycero)phosphate synthase activity", "id": "GO:0160121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160121", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW8", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UMW8-1", "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": "Q3UMW8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3UMW8-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Asn126", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q3UMW8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3UMW8-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Asn161", "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": "ENGTLSVVATISGNTFNK", "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": "Q3UMW8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3UMW8-1", "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": "Q3UMW8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3UMW8-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Asn238", "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": "KIETNYTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 238, "start_aa": "Asn", "end_pos": 238, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn238", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 238, "start_aa": "Asn", "end_pos": 238, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn238", "evidence": [ { "id": "Q3UMW8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3UMW8-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Asn254", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G04854VP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IFLYSGEPIYLGNETSIFGPK", "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" } ] }, { "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": 254, "start_aa": "Asn", "end_pos": 254, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn254", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2208", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2208" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 254, "start_aa": "Asn", "end_pos": 254, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn254", "evidence": [ { "id": "Q3UMW8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3UMW8-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Asn264", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 264, "start_aa": "Asn", "end_pos": 264, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn264", "evidence": [ { "id": "Q3UMW8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UMW8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3UMW8-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Thr31", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 31, "start_aa": "Thr", "end_pos": 31, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr31", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q3UMW8-1" }, { "uniprot_canonical_ac": "Q8K2W9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K2W9", "url": "https://www.uniprot.org/uniprotkb/Q8K2W9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 541, "chemical_mass": 58780.0, "gene_names": "4931414P19Rik;4931414P19Rik;Rtfc", "protein_name": "Uncharacterized protein C14orf93 homolog", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8K2W9", "url": "https://www.uniprot.org/uniprotkb/Q8K2W9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K2W9-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Thr118", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2W9", "url": "https://www.uniprot.org/uniprotkb/Q8K2W9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "Q8K2W9-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Ser226", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2W9", "url": "https://www.uniprot.org/uniprotkb/Q8K2W9" } ] } ] }, { "uniprot_canonical_ac": "Q8K2W9-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Ser286", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2W9", "url": "https://www.uniprot.org/uniprotkb/Q8K2W9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "Q8K2W9-1", "start_pos": "429", "end_pos": "429", "site_lbl": "Ser429", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2W9", "url": "https://www.uniprot.org/uniprotkb/Q8K2W9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] } ], "record_id": "Q8K2W9-1" }, { "uniprot_canonical_ac": "Q8CI96-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CI96", "url": "https://www.uniprot.org/uniprotkb/Q8CI96" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 704, "chemical_mass": 75789.0, "gene_names": "Clip4;1700024K14Rik;1700074B05Rik;4833417L20Rik;5830409B12Rik;Clip4;Rsnl2", "protein_name": "CAP-Gly domain-containing linker protein 4", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CI96", "url": "https://www.uniprot.org/uniprotkb/Q8CI96" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q8CI96", "url": "https://www.uniprot.org/uniprotkb/Q8CI96" } ], "pmid": "" }, { "name": "microtubule plus-end", "id": "GO:0035371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035371", "evidence": [ { "database": "UniProtKB", "id": "Q8CI96", "url": "https://www.uniprot.org/uniprotkb/Q8CI96" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule plus-end binding", "id": "GO:0051010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051010", "evidence": [ { "database": "UniProtKB", "id": "Q8CI96", "url": "https://www.uniprot.org/uniprotkb/Q8CI96" } ], "pmid": "" } ], "biological_process": [ { "name": "cytoplasmic microtubule organization", "id": "GO:0031122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "database": "UniProtKB", "id": "Q8CI96", "url": "https://www.uniprot.org/uniprotkb/Q8CI96" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CI96-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Thr645", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 645, "start_aa": "Thr", "end_pos": 645, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr645", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8CI96-1", "start_pos": "556", "end_pos": "556", "site_lbl": "Ser556", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CI96", "url": "https://www.uniprot.org/uniprotkb/Q8CI96" } ] } ] }, { "uniprot_canonical_ac": "Q8CI96-1", "start_pos": "608", "end_pos": "608", "site_lbl": "Ser608", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CI96", "url": "https://www.uniprot.org/uniprotkb/Q8CI96" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CI96", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CI96" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "17", "chr_pos": "72163252", "evidence": [ { "id": "rs3407857313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407857313" } ] } ] } ], "record_id": "Q8CI96-1" }, { "uniprot_canonical_ac": "Q9EPU4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EPU4", "url": "https://www.uniprot.org/uniprotkb/Q9EPU4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1441, "chemical_mass": 160818.0, "gene_names": "Cpsf1;CPSF160;Cpsf160;Cpsf1", "protein_name": "Cleavage and polyadenylation specificity factor subunit 1", "disease": [ { "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 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9EPU4", "url": "https://www.uniprot.org/uniprotkb/Q9EPU4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9EPU4", "url": "https://www.uniprot.org/uniprotkb/Q9EPU4" } ], "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": "Q9EPU4", "url": "https://www.uniprot.org/uniprotkb/Q9EPU4" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q9EPU4", "url": "https://www.uniprot.org/uniprotkb/Q9EPU4" } ], "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": "Q9EPU4", "url": "https://www.uniprot.org/uniprotkb/Q9EPU4" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q9EPU4", "url": "https://www.uniprot.org/uniprotkb/Q9EPU4" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9EPU4", "url": "https://www.uniprot.org/uniprotkb/Q9EPU4" } ], "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": "Q9EPU4", "url": "https://www.uniprot.org/uniprotkb/Q9EPU4" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q9EPU4", "url": "https://www.uniprot.org/uniprotkb/Q9EPU4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EPU4-1", "start_pos": "1103", "end_pos": "1103", "site_lbl": "Thr1103", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1103, "start_aa": "Thr", "end_pos": 1103, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1103", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9EPU4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9EPU4" }, { "id": "34887587", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34887587" } ] } ] }, { "uniprot_canonical_ac": "Q9EPU4-1", "start_pos": "754", "end_pos": "754", "site_lbl": "Ser754", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPU4", "url": "https://www.uniprot.org/uniprotkb/Q9EPU4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9EPU4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EPU4" } ] } ] }, { "uniprot_canonical_ac": "Q9EPU4-1", "start_pos": "764", "end_pos": "764", "site_lbl": "Ser764", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPU4", "url": "https://www.uniprot.org/uniprotkb/Q9EPU4" } ] } ] } ], "record_id": "Q9EPU4-1" }, { "uniprot_canonical_ac": "A2AM05-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1397, "chemical_mass": 160747.0, "gene_names": "Cntln;B430108F07Rik;Cntln;D530005L17Rik", "protein_name": "Centlein", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" } ], "pmid": "" }, { "name": "sperm head-tail coupling apparatus", "id": "GO:0120212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120212", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" } ], "pmid": "" }, { "name": "single fertilization", "id": "GO:0007338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007338", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" } ], "pmid": "" }, { "name": "centriole-centriole cohesion", "id": "GO:0010457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010457", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2AM05-1", "start_pos": "1219", "end_pos": "1219", "site_lbl": "Ser1219", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AM05", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AM05" } ] } ] }, { "uniprot_canonical_ac": "A2AM05-1", "start_pos": "1334", "end_pos": "1334", "site_lbl": "Thr1334", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AM05", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AM05" } ] } ] }, { "uniprot_canonical_ac": "A2AM05-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Ser22", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" } ] } ] }, { "uniprot_canonical_ac": "A2AM05-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ser5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" }, { "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": "A2AM05", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AM05" } ] } ] }, { "uniprot_canonical_ac": "A2AM05-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Ser9", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AM05", "url": "https://www.uniprot.org/uniprotkb/A2AM05" }, { "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": "A2AM05", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AM05" } ] } ] } ], "record_id": "A2AM05-1" }, { "uniprot_canonical_ac": "Q8R3P7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 413, "chemical_mass": 47953.0, "gene_names": "Cluap1;2310030D15Rik;2610111M03Rik;Cluap1", "protein_name": "Clusterin-associated protein 1", "disease": [], "biological_process": [ { "name": "left/right pattern formation", "id": "GO:0060972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060972", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" }, { "name": "floor plate formation", "id": "GO:0021508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021508", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" }, { "name": "intraciliary transport", "id": "GO:0042073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042073", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" }, { "name": "axoneme assembly", "id": "GO:0035082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035082", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" }, { "name": "intraciliary anterograde transport", "id": "GO:0035720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035720", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" }, { "name": "intraciliary transport particle A", "id": "GO:0030991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030991", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" }, { "name": "intraciliary transport particle B", "id": "GO:0030992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030992", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" }, { "name": "ciliary tip", "id": "GO:0097542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097542", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R3P7-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Ser314", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R3P7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R3P7" } ] } ] }, { "uniprot_canonical_ac": "Q8R3P7-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Ser324", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R3P7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R3P7" } ] } ] }, { "uniprot_canonical_ac": "Q8R3P7-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Ser326", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8R3P7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R3P7" } ] } ] }, { "uniprot_canonical_ac": "Q8R3P7-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Ser409", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R3P7", "url": "https://www.uniprot.org/uniprotkb/Q8R3P7" }, { "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": "Q8R3P7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8R3P7" } ] } ] } ], "record_id": "Q8R3P7-1" }, { "uniprot_canonical_ac": "Q68FD5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1675, "chemical_mass": 191557.0, "gene_names": "Cltc;3110065L21Rik;CHC;Cltc", "protein_name": "Clathrin heavy chain 1", "disease": [ { "disease_id": "DOID:0080226", "name": "autosomal dominant intellectual developmental disorder 56", "description": "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23.", "url": "https://disease-ontology.org/term/DOID:0080226", "evidence": [ { "id": "0080226", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080226" } ], "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": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "clathrin coat", "id": "GO:0030118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030118", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "presynaptic endocytic zone membrane", "id": "GO:0098835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098835", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "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": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "clathrin-coated endocytic vesicle", "id": "GO:0045334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045334", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "clathrin coat of trans-Golgi network vesicle", "id": "GO:0030130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030130", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "membrane coat", "id": "GO:0030117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030117", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "mitotic spindle microtubule", "id": "GO:1990498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990498", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "Myb complex", "id": "GO:0031523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031523", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "clathrin complex", "id": "GO:0071439", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071439", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "clathrin coat of coated pit", "id": "GO:0030132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030132", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "postsynaptic endocytic zone", "id": "GO:0098843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098843", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "photoreceptor ribbon synapse", "id": "GO:0098684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098684", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" } ], "biological_process": [ { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "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": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "clathrin coat assembly", "id": "GO:0048268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048268", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "clathrin-dependent endocytosis", "id": "GO:0072583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072583", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "retrograde transport, endosome to Golgi", "id": "GO:0042147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042147", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "regulation of mitotic spindle organization", "id": "GO:0060236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060236", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "negative regulation of hyaluronan biosynthetic process", "id": "GO:1900126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900126", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "transferrin transport", "id": "GO:0033572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033572", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "clathrin coat disassembly", "id": "GO:0072318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072318", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "amyloid-beta clearance by transcytosis", "id": "GO:0150093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150093", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "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": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "ubiquitin-specific protease binding", "id": "GO:1990381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990381", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "disordered domain specific binding", "id": "GO:0097718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097718", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "ankyrin binding", "id": "GO:0030506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030506", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "clathrin light chain binding", "id": "GO:0032051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032051", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" }, { "name": "protein serine/threonine kinase binding", "id": "GO:0120283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120283", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "1220", "end_pos": "1220", "site_lbl": "Asn1220", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G83014KM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MYDAAKLLYNNVSNFGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1220, "start_aa": "Asn", "end_pos": 1220, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1220", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "1248", "end_pos": "1248", "site_lbl": "Asn1248", "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": "ANSTRTWKEVCFACVDGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1248, "start_aa": "Asn", "end_pos": 1248, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1248", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "1460", "end_pos": "1460", "site_lbl": "Asn1460", "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": "SVQNHNNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1460, "start_aa": "Asn", "end_pos": 1460, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1460", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "1492", "end_pos": "1492", "site_lbl": "Asn1492", "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": "TSIDAYDNFDNISLAQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1492, "start_aa": "Asn", "end_pos": 1492, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1492", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Asn376", "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": "KFNALFAQGNYSEAAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 376, "start_aa": "Asn", "end_pos": 376, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn376", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Thr105", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q68FD5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q68FD5" } ] } ] }, { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "1167", "end_pos": "1167", "site_lbl": "Ser1167", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q68FD5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q68FD5" } ] } ] }, { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "1206", "end_pos": "1206", "site_lbl": "Tyr1206", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q68FD5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q68FD5" } ] } ] }, { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "1229", "end_pos": "1229", "site_lbl": "Ser1229", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ] } ] }, { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "1477", "end_pos": "1477", "site_lbl": "Tyr1477", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q68FD5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q68FD5" } ] } ] }, { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "1487", "end_pos": "1487", "site_lbl": "Tyr1487", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q68FD5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q68FD5" } ] } ] }, { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "1494", "end_pos": "1494", "site_lbl": "Ser1494", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q68FD5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q68FD5" } ] } ] }, { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Tyr184", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q68FD5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q68FD5" } ] } ] }, { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Thr394", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" } ] } ] }, { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "634", "end_pos": "634", "site_lbl": "Tyr634", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q68FD5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q68FD5" } ] } ] }, { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Ser67", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q68FD5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q68FD5" } ] } ] }, { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "899", "end_pos": "899", "site_lbl": "Tyr899", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FD5", "url": "https://www.uniprot.org/uniprotkb/Q68FD5" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q68FD5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q68FD5" } ] } ] }, { "uniprot_canonical_ac": "Q68FD5-1", "start_pos": "1029", "end_pos": "1029", "site_lbl": "Ile1029", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ILT->NLT).", "chr_id": "11", "chr_pos": "86598041", "evidence": [ { "id": "rs3389153686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389153686" } ] } ] } ], "record_id": "Q68FD5-1" }, { "uniprot_canonical_ac": "P12960-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1020, "chemical_mass": 113388.0, "gene_names": "Cntn1;CNTN;Cntn1;F3cam;usl", "protein_name": "Contactin-1", "disease": [ { "disease_id": "DOID:0080101", "name": "Compton-North congenital myopathy", "description": "A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels.", "url": "https://disease-ontology.org/term/DOID:0080101", "evidence": [ { "id": "0080101", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080101" } ], "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": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" } ], "biological_process": [ { "name": "central nervous system myelin formation", "id": "GO:0032289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032289", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "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": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "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": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "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": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" } ], "molecular_function": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" }, { "name": "cell-cell adhesion mediator activity", "id": "GO:0098632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098632", "evidence": [ { "database": "UniProtKB", "id": "P12960", "url": "https://www.uniprot.org/uniprotkb/P12960" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P12960-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Asn208", "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": 208, "start_aa": "Asn", "end_pos": 208, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn208", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 208, "start_aa": "Asn", "end_pos": 208, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn208", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "glytoucan_ac": "G35029YA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GNYSCFVSSPSITK", "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" } ] }, { "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": 208, "start_aa": "Asn", "end_pos": 208, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn208", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 208, "start_aa": "Asn", "end_pos": 208, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn208", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 208, "start_aa": "Asn", "end_pos": 208, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn208", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 208, "start_aa": "Asn", "end_pos": 208, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn208", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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=7OL2&bu=0&command=select+.B:208;+center+selection;+zoom+selection" }, "start_pos": 208, "start_aa": "Asn", "end_pos": 208, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn208", "evidence": [ { "id": "7OL2", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL2" }, { "id": "7OL2", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL2" }, { "id": "7OL2|B|208", "database": "", "url": "" } ] }, { "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": 208, "start_aa": "Asn", "end_pos": 208, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn208", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "glytoucan_ac": "", "type": "N-linked", "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=7OL2&bu=0&command=select+.A:208;+center+selection;+zoom+selection" }, "start_pos": 208, "start_aa": "Asn", "end_pos": 208, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn208", "evidence": [ { "id": "P12960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12960#ptm_processing" }, { "id": "7OL2", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL2" }, { "id": "7OL2", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL2" }, { "id": "7OL4", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL4" }, { "id": "7OL4", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL4" }, { "id": "7OL2|A|208", "database": "", "url": "" }, { "id": "7OL4|B|208", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P12960-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Asn258", "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": 258, "start_aa": "Asn", "end_pos": 258, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn258", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "glytoucan_ac": "G09724ZC", "type": "N-linked", "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=7OL4&bu=0&command=select+.B:258;+center+selection;+zoom+selection" }, "start_pos": 258, "start_aa": "Asn", "end_pos": 258, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn258", "evidence": [ { "id": "7OL4", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL4" }, { "id": "7OL4", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL4" }, { "id": "7OL4|B|258", "database": "", "url": "" } ] }, { "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": 258, "start_aa": "Asn", "end_pos": 258, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn258", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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=7OL2&bu=0&command=select+.A:258;+center+selection;+zoom+selection" }, "start_pos": 258, "start_aa": "Asn", "end_pos": 258, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn258", "evidence": [ { "id": "7OL2", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL2" }, { "id": "7OL2", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL2" }, { "id": "7OL2|A|258", "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": 258, "start_aa": "Asn", "end_pos": 258, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn258", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 258, "start_aa": "Asn", "end_pos": 258, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn258", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 258, "start_aa": "Asn", "end_pos": 258, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn258", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "glytoucan_ac": "G76868JS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DIYTMMGQNVTLECFALGNPVPDIR", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "P12960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12960#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P12960-1", "start_pos": "338", "end_pos": "338", "site_lbl": "Asn338", "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": 338, "start_aa": "Asn", "end_pos": 338, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn338", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 338, "start_aa": "Asn", "end_pos": 338, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn338", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 338, "start_aa": "Asn", "end_pos": 338, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn338", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 338, "start_aa": "Asn", "end_pos": 338, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn338", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "glytoucan_ac": "", "type": "N-linked", "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=7OL2&bu=0&command=select+.B:338;+center+selection;+zoom+selection" }, "start_pos": 338, "start_aa": "Asn", "end_pos": 338, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn338", "evidence": [ { "id": "P12960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12960#ptm_processing" }, { "id": "7OL2", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL2" }, { "id": "7OL2", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL2" }, { "id": "7OL4", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL4" }, { "id": "7OL4", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL4" }, { "id": "7OL2|B|338", "database": "", "url": "" }, { "id": "7OL2|A|338", "database": "", "url": "" }, { "id": "7OL4|B|338", "database": "", "url": "" }, { "id": "7OL4|A|338", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P12960-1", "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": "P12960", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12960" }, { "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": "P12960-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Asn457", "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": "GTEWLVNSSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 457, "start_aa": "Asn", "end_pos": 457, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn457", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 457, "start_aa": "Asn", "end_pos": 457, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn457", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 457, "start_aa": "Asn", "end_pos": 457, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn457", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 457, "start_aa": "Asn", "end_pos": 457, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn457", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "glytoucan_ac": "G22573RC", "type": "N-linked", "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=7OL4&bu=0&command=select+.A:457;+center+selection;+zoom+selection" }, "start_pos": 457, "start_aa": "Asn", "end_pos": 457, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn457", "evidence": [ { "id": "7OL4", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL4" }, { "id": "7OL4", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL4" }, { "id": "7OL4|A|457", "database": "", "url": "" } ] }, { "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=7OL2&bu=0&command=select+.A:457;+center+selection;+zoom+selection" }, "start_pos": 457, "start_aa": "Asn", "end_pos": 457, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn457", "evidence": [ { "id": "7OL2", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL2" }, { "id": "7OL2", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL2" }, { "id": "7OL2|A|457", "database": "", "url": "" } ] }, { "glytoucan_ac": "G34442SS", "type": "N-linked", "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=7OL4&bu=0&command=select+.B:457;+center+selection;+zoom+selection" }, "start_pos": 457, "start_aa": "Asn", "end_pos": 457, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn457", "evidence": [ { "id": "7OL4", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL4" }, { "id": "7OL4", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL4" }, { "id": "7OL4|B|457", "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": 457, "start_aa": "Asn", "end_pos": 457, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn457", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 457, "start_aa": "Asn", "end_pos": 457, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn457", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 457, "start_aa": "Asn", "end_pos": 457, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn457", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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=7OL2&bu=0&command=select+.B:457;+center+selection;+zoom+selection" }, "start_pos": 457, "start_aa": "Asn", "end_pos": 457, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn457", "evidence": [ { "id": "7OL2", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL2" }, { "id": "7OL2", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL2" }, { "id": "7OL2|B|457", "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": {}, "start_pos": 457, "start_aa": "Asn", "end_pos": 457, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn457", "evidence": [ { "id": "P12960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12960#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P12960-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Asn473", "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": "ILIWEDGSLEINNITR", "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": "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": 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": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 473, "start_aa": "Asn", "end_pos": 473, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn473", "evidence": [ { "id": "P12960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12960#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P12960-1", "start_pos": "494", "end_pos": "494", "site_lbl": "Asn494", "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": 494, "start_aa": "Asn", "end_pos": 494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn494", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 494, "start_aa": "Asn", "end_pos": 494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn494", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "glytoucan_ac": "G14994KB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 494, "start_aa": "Asn", "end_pos": 494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn494", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "glytoucan_ac": "G31685JQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 494, "start_aa": "Asn", "end_pos": 494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn494", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 494, "start_aa": "Asn", "end_pos": 494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn494", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 494, "start_aa": "Asn", "end_pos": 494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn494", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 494, "start_aa": "Asn", "end_pos": 494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn494", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 494, "start_aa": "Asn", "end_pos": 494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn494", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 494, "start_aa": "Asn", "end_pos": 494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn494", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 494, "start_aa": "Asn", "end_pos": 494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn494", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "glytoucan_ac": "G85269DF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GKANSTGTLVITNPTR", "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": "G94626GC", "type": "N-linked", "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=7OL4&bu=0&command=select+.B:494;+center+selection;+zoom+selection" }, "start_pos": 494, "start_aa": "Asn", "end_pos": 494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn494", "evidence": [ { "id": "7OL4", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL4" }, { "id": "7OL4", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL4" }, { "id": "7OL4|B|494", "database": "", "url": "" } ] }, { "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": 494, "start_aa": "Asn", "end_pos": 494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn494", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "glytoucan_ac": "", "type": "N-linked", "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=7OL2&bu=0&command=select+.B:494;+center+selection;+zoom+selection" }, "start_pos": 494, "start_aa": "Asn", "end_pos": 494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn494", "evidence": [ { "id": "P12960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12960#ptm_processing" }, { "id": "7OL2", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL2" }, { "id": "7OL2", "database": "PDB", "url": "https://www.rcsb.org/structure/7OL2" }, { "id": "7OL2|B|494", "database": "", "url": "" }, { "id": "7OL2|A|494", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P12960-1", "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": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "P12960", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P12960" } ] } ] }, { "uniprot_canonical_ac": "P12960-1", "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": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P12960", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12960" }, { "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": "P12960-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Asn521", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G04657PL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IILAPINADITVGENATMQCAASFDPALDLTFVWSFNGYVIDFNK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "P12960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12960#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P12960-1", "start_pos": "593", "end_pos": "593", "site_lbl": "Asn593", "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": 593, "start_aa": "Asn", "end_pos": 593, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn593", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 593, "start_aa": "Asn", "end_pos": 593, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn593", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "glytoucan_ac": "G14994KB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 593, "start_aa": "Asn", "end_pos": 593, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn593", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 593, "start_aa": "Asn", "end_pos": 593, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn593", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 593, "start_aa": "Asn", "end_pos": 593, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn593", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "glytoucan_ac": "G60967DT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YTCTAQTIVDNSSASADLVVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 593, "start_aa": "Asn", "end_pos": 593, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn593", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "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": 593, "start_aa": "Asn", "end_pos": 593, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn593", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 593, "start_aa": "Asn", "end_pos": 593, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn593", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 593, "start_aa": "Asn", "end_pos": 593, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn593", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 593, "start_aa": "Asn", "end_pos": 593, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn593", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 593, "start_aa": "Asn", "end_pos": 593, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn593", "evidence": [ { "id": "P12960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12960#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P12960-1", "start_pos": "934", "end_pos": "934", "site_lbl": "Ser934", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 934, "start_aa": "Ser", "end_pos": 934, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser934", "evidence": [ { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P12960", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12960" }, { "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": "P12960-1", "start_pos": "935", "end_pos": "935", "site_lbl": "Asn935", "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": 935, "start_aa": "Asn", "end_pos": 935, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn935", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 935, "start_aa": "Asn", "end_pos": 935, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn935", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 935, "start_aa": "Asn", "end_pos": 935, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn935", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 935, "start_aa": "Asn", "end_pos": 935, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn935", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YIITWDHVVALSNESTVTGYK", "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" } ] }, { "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": 935, "start_aa": "Asn", "end_pos": 935, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn935", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "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": 935, "start_aa": "Asn", "end_pos": 935, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn935", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2224", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2224" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 935, "start_aa": "Asn", "end_pos": 935, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn935", "evidence": [ { "id": "P12960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P12960#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P12960-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Tyr209", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YSC->NSC).", "chr_id": "15", "chr_pos": "92140900", "evidence": [ { "id": "rs3389374831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389374831" } ] } ] } ], "record_id": "P12960-1" }, { "uniprot_canonical_ac": "Q8BMK4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BMK4", "url": "https://www.uniprot.org/uniprotkb/Q8BMK4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 575, "chemical_mass": 63692.0, "gene_names": "Ckap4;5630400A09Rik;CLIMP-63;Ckap4;P63", "protein_name": "Cytoskeleton-associated protein 4", "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 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BMK4", "url": "https://www.uniprot.org/uniprotkb/Q8BMK4" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8BMK4", "url": "https://www.uniprot.org/uniprotkb/Q8BMK4" } ], "pmid": "" }, { "name": "rough endoplasmic reticulum", "id": "GO:0005791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005791", "evidence": [ { "database": "UniProtKB", "id": "Q8BMK4", "url": "https://www.uniprot.org/uniprotkb/Q8BMK4" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q8BMK4", "url": "https://www.uniprot.org/uniprotkb/Q8BMK4" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8BMK4", "url": "https://www.uniprot.org/uniprotkb/Q8BMK4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BMK4", "url": "https://www.uniprot.org/uniprotkb/Q8BMK4" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q8BMK4", "url": "https://www.uniprot.org/uniprotkb/Q8BMK4" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q8BMK4", "url": "https://www.uniprot.org/uniprotkb/Q8BMK4" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8BMK4", "url": "https://www.uniprot.org/uniprotkb/Q8BMK4" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8BMK4", "url": "https://www.uniprot.org/uniprotkb/Q8BMK4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BMK4-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Ser17", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BMK4", "url": "https://www.uniprot.org/uniprotkb/Q8BMK4" } ] } ] }, { "uniprot_canonical_ac": "Q8BMK4-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Ser19", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BMK4", "url": "https://www.uniprot.org/uniprotkb/Q8BMK4" } ] } ] }, { "uniprot_canonical_ac": "Q8BMK4-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Ser211", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BMK4", "url": "https://www.uniprot.org/uniprotkb/Q8BMK4" } ] } ] }, { "uniprot_canonical_ac": "Q8BMK4-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Ser292", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BMK4", "url": "https://www.uniprot.org/uniprotkb/Q8BMK4" } ] } ] }, { "uniprot_canonical_ac": "Q8BMK4-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Ser367", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BMK4", "url": "https://www.uniprot.org/uniprotkb/Q8BMK4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BMK4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BMK4" } ] } ] }, { "uniprot_canonical_ac": "Q8BMK4-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Ser3", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BMK4", "url": "https://www.uniprot.org/uniprotkb/Q8BMK4" } ] } ] } ], "record_id": "Q8BMK4-1" }, { "uniprot_canonical_ac": "Q9QXX4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 676, "chemical_mass": 74467.0, "gene_names": "Slc25a13;Agc2;Ctrn;Slc25a13", "protein_name": "Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial", "disease": [ { "disease_id": "DOID:0070341", "name": "neonatal-onset type II citrullinemia", "description": "A citrullinemia characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.", "url": "https://disease-ontology.org/term/DOID:0070341", "evidence": [ { "id": "0070341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070341" } ], "weight": 0.0 }, { "disease_id": "DOID:0070342", "name": "adult-onset type II citrullinemia", "description": "A citrullinemia characterized by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.", "url": "https://disease-ontology.org/term/DOID:0070342", "evidence": [ { "id": "0070342", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070342" } ], "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:4137", "name": "common bile duct disease", "description": "A bile duct disease that is located_in the common bile duct.", "url": "https://disease-ontology.org/term/DOID:4137", "evidence": [ { "id": "4137", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4137" } ], "weight": 0.0 }, { "disease_id": "DOID:9273", "name": "citrullinemia", "description": "An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood.", "url": "https://disease-ontology.org/term/DOID:9273", "evidence": [ { "id": "9273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9273" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ], "pmid": "" }, { "name": "L-glutamate transmembrane transporter activity", "id": "GO:0005313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005313", "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ], "pmid": "" }, { "name": "acidic amino acid transmembrane transporter activity", "id": "GO:0015172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015172", "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ], "pmid": "" }, { "name": "L-aspartate transmembrane transporter activity", "id": "GO:0015183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015183", "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ], "pmid": "" }, { "name": "3-sulfino-L-alanine: proton, glutamate antiporter activity", "id": "GO:0000514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000514", "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ], "pmid": "" }, { "name": "aspartate:glutamate, proton antiporter activity", "id": "GO:0000515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000515", "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ], "pmid": "" } ], "biological_process": [ { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ], "pmid": "" }, { "name": "ATP biosynthetic process", "id": "GO:0006754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006754", "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ], "pmid": "" }, { "name": "cellular respiration", "id": "GO:0045333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045333", "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ], "pmid": "" }, { "name": "aspartate transmembrane transport", "id": "GO:0015810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015810", "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ], "pmid": "" }, { "name": "L-glutamate transmembrane transport", "id": "GO:0015813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015813", "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ], "pmid": "" }, { "name": "malate-aspartate shuttle", "id": "GO:0043490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043490", "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QXX4-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Ser667", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXX4", "url": "https://www.uniprot.org/uniprotkb/Q9QXX4" } ] } ] } ], "record_id": "Q9QXX4-1" }, { "uniprot_canonical_ac": "Q6Y7W8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1291, "chemical_mass": 149193.0, "gene_names": "Gigyf2;2610016F01Rik;A830080H02Rik;Gigyf2;Kiaa0642;Perq2;Tnrc15;mKIAA0642", "protein_name": "GRB10-interacting GYF protein 2", "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: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: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": "rescue of stalled ribosome", "id": "GO:0072344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072344", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "musculoskeletal movement", "id": "GO:0050881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050881", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "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": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "feeding behavior", "id": "GO:0007631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007631", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "spinal cord motor neuron differentiation", "id": "GO:0021522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021522", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "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": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "mRNA destabilization", "id": "GO:0061157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061157", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "mitotic G1 DNA damage checkpoint signaling", "id": "GO:0031571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031571", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "negative regulation of type I interferon-mediated signaling pathway", "id": "GO:0060339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060339", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "post-transcriptional gene silencing", "id": "GO:0016441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016441", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "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": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "proline-rich region binding", "id": "GO:0070064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070064", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" }, { "name": "proximal dendrite", "id": "GO:1990635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990635", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6Y7W8-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Thr383", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 383, "start_aa": "Thr", "end_pos": 383, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr383", "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": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6Y7W8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6Y7W8" } ] } ] }, { "uniprot_canonical_ac": "Q6Y7W8-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Thr458", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 458, "start_aa": "Thr", "end_pos": 458, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr458", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6Y7W8-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Ser672", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 672, "start_aa": "Ser", "end_pos": 672, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser672", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q6Y7W8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6Y7W8" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q6Y7W8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6Y7W8" } ] } ] }, { "uniprot_canonical_ac": "Q6Y7W8-1", "start_pos": "679", "end_pos": "679", "site_lbl": "Ser679", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 679, "start_aa": "Ser", "end_pos": 679, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser679", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q6Y7W8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6Y7W8" } ] } ] }, { "uniprot_canonical_ac": "Q6Y7W8-1", "start_pos": "681", "end_pos": "681", "site_lbl": "Thr681", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 681, "start_aa": "Thr", "end_pos": 681, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr681", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q6Y7W8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6Y7W8" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q6Y7W8", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6Y7W8" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q6Y7W8-1", "start_pos": "1276", "end_pos": "1276", "site_lbl": "Ser1276", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ] } ] }, { "uniprot_canonical_ac": "Q6Y7W8-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Ser140", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ] } ] }, { "uniprot_canonical_ac": "Q6Y7W8-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Ser161", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ] } ] }, { "uniprot_canonical_ac": "Q6Y7W8-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Ser190", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ] } ] }, { "uniprot_canonical_ac": "Q6Y7W8-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Ser19", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ] } ] }, { "uniprot_canonical_ac": "Q6Y7W8-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Ser237", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ] } ] }, { "uniprot_canonical_ac": "Q6Y7W8-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Ser26", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6Y7W8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6Y7W8" } ] } ] }, { "uniprot_canonical_ac": "Q6Y7W8-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Ser30", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6Y7W8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6Y7W8" } ] } ] }, { "uniprot_canonical_ac": "Q6Y7W8-1", "start_pos": "594", "end_pos": "594", "site_lbl": "Ser594", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ] } ] }, { "uniprot_canonical_ac": "Q6Y7W8-1", "start_pos": "995", "end_pos": "995", "site_lbl": "Ser995", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6Y7W8", "url": "https://www.uniprot.org/uniprotkb/Q6Y7W8" } ] } ] } ], "record_id": "Q6Y7W8-1" }, { "uniprot_canonical_ac": "Q8K3I9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 537, "chemical_mass": 57479.0, "gene_names": "Glcci1;2310047L21Rik;A130036A18Rik;Fam117c;Gig18;Glcci1;Tssn1", "protein_name": "Glucocorticoid-induced transcript 1 protein", "disease": [ { "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: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: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": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" } ], "pmid": "" }, { "name": "podocyte foot", "id": "GO:0098846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098846", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K3I9-1", "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" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K3I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Ser162", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Ser163", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Thr166", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Thr168", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Ser214", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Ser248", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Thr256", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Ser26", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q8K3I9", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q8K3I9" }, { "database": "iPTMnet", "id": "Q8K3I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3I9" }, { "database": "PubMed", "id": "17114649", "url": "https://glygen.org/publication/PubMed/17114649" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Ser293", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K3I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Thr333", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Ser335", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K3I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Thr340", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K3I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Ser384", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K3I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Ser388", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Ser396", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Ser402", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K3I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "470", "end_pos": "470", "site_lbl": "Ser470", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Ser69", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Ser96", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K3I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Ser98", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K3I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3I9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3I9-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Ser99", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3I9", "url": "https://www.uniprot.org/uniprotkb/Q8K3I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K3I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3I9" } ] } ] } ], "record_id": "Q8K3I9-1" }, { "uniprot_canonical_ac": "Q07802-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 591, "chemical_mass": 64464.0, "gene_names": "Ebf1;Coe1;Ebf1;Ebf;O/E-1;OE-1;Olf-1;Olf1", "protein_name": "Transcription factor COE1", "disease": [ { "disease_id": "DOID:811", "name": "lipodystrophy", "description": "A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.", "url": "https://disease-ontology.org/term/DOID:811", "evidence": [ { "id": "811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:811" } ], "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": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" } ], "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": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" } ], "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": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" } ], "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": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" } ], "pmid": "" }, { "name": "C2H2 zinc finger domain binding", "id": "GO:0070742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070742", "evidence": [ { "database": "UniProtKB", "id": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" } ], "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": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" } ], "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": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" } ], "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": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q07802-1", "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": "Q07802-1", "start_pos": "464", "end_pos": "464", "site_lbl": "Ser464", "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": "44883154", "evidence": [ { "id": "rs3389157145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389157145" } ] } ] }, { "uniprot_canonical_ac": "Q07802-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Ser473", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (STT->NTT).", "chr_id": "11", "chr_pos": "44883184", "evidence": [ { "id": "rs3389157096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389157096" } ] } ] }, { "uniprot_canonical_ac": "Q07802-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Arg163", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly reduced interaction with DNA.", "evidence": [ { "database": "UniProtKB", "id": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" }, { "database": "PubMed", "id": "20876732", "url": "https://glygen.org/publication/PubMed/20876732" } ] } ] }, { "uniprot_canonical_ac": "Q07802-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Gly203", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Strongly reduced interaction with DNA.", "evidence": [ { "database": "UniProtKB", "id": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" }, { "database": "PubMed", "id": "20876732", "url": "https://glygen.org/publication/PubMed/20876732" } ] } ] }, { "uniprot_canonical_ac": "Q07802-1", "start_pos": "235", "end_pos": "235", "site_lbl": "His235", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Strongly reduced interaction with DNA.", "evidence": [ { "database": "UniProtKB", "id": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" }, { "database": "PubMed", "id": "20876732", "url": "https://glygen.org/publication/PubMed/20876732" } ] } ] }, { "uniprot_canonical_ac": "Q07802-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Arg63", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly reduced interaction with DNA.", "evidence": [ { "database": "UniProtKB", "id": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" }, { "database": "PubMed", "id": "20876732", "url": "https://glygen.org/publication/PubMed/20876732" } ] } ] }, { "uniprot_canonical_ac": "Q07802-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Asn66", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Reduced interaction with DNA.", "evidence": [ { "database": "UniProtKB", "id": "Q07802", "url": "https://www.uniprot.org/uniprotkb/Q07802" }, { "database": "PubMed", "id": "20876732", "url": "https://glygen.org/publication/PubMed/20876732" } ] } ] } ], "record_id": "Q07802-1" }, { "uniprot_canonical_ac": "Q80XI3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1579, "chemical_mass": 174890.0, "gene_names": "Eif4g3;1500002J22Rik;4930523M17Rik;Eif4g3;G1-419-52;Gm32394;eIF4GII;repro8", "protein_name": "Eukaryotic translation initiation factor 4 gamma 3", "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": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ], "pmid": "" }, { "name": "translational initiation", "id": "GO:0006413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006413", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ], "pmid": "" }, { "name": "positive regulation of meiosis I", "id": "GO:0060903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060903", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ], "pmid": "" }, { "name": "translation initiation factor activity", "id": "GO:0003743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003743", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ], "pmid": "" }, { "name": "eukaryotic translation initiation factor 4F complex", "id": "GO:0016281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016281", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80XI3-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Thr179", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 179, "start_aa": "Thr", "end_pos": 179, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr179", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80XI3-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Thr259", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 259, "start_aa": "Thr", "end_pos": 259, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr259", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80XI3-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Thr417", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 417, "start_aa": "Thr", "end_pos": 417, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr417", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80XI3-1", "start_pos": "1150", "end_pos": "1150", "site_lbl": "Ser1150", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ] } ] }, { "uniprot_canonical_ac": "Q80XI3-1", "start_pos": "1212", "end_pos": "1212", "site_lbl": "Ser1212", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ] } ] }, { "uniprot_canonical_ac": "Q80XI3-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Thr168", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q80XI3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80XI3" } ] } ] }, { "uniprot_canonical_ac": "Q80XI3-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Ser230", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ] } ] }, { "uniprot_canonical_ac": "Q80XI3-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Ser232", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ] } ] }, { "uniprot_canonical_ac": "Q80XI3-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Ser267", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" }, { "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": "Q80XI3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80XI3" } ] } ] }, { "uniprot_canonical_ac": "Q80XI3-1", "start_pos": "436", "end_pos": "436", "site_lbl": "Ser436", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80XI3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80XI3" } ] } ] }, { "uniprot_canonical_ac": "Q80XI3-1", "start_pos": "470", "end_pos": "470", "site_lbl": "Ser470", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" }, { "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": "Q80XI3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80XI3" } ] } ] }, { "uniprot_canonical_ac": "Q80XI3-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Ser472", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" }, { "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": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q80XI3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80XI3" } ] } ] }, { "uniprot_canonical_ac": "Q80XI3-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Ser490", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80XI3", "url": "https://www.uniprot.org/uniprotkb/Q80XI3" } ] } ] } ], "record_id": "Q80XI3-1" }, { "uniprot_canonical_ac": "Q9JM58-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 425, "chemical_mass": 46662.0, "gene_names": "Crlf1;CLF-1;CRLM-3;CRLM3;Crlf1;Crlm3;NR6.1;NR6", "protein_name": "Cytokine receptor-like factor 1", "disease": [ { "disease_id": "DOID:0080329", "name": "cold-induced sweating syndrome 1", "description": "A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention.", "url": "https://disease-ontology.org/term/DOID:0080329", "evidence": [ { "id": "0080329", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080329" } ], "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": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" } ], "pmid": "" }, { "name": "CRLF-CLCF1 complex", "id": "GO:0097058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097058", "evidence": [ { "database": "UniProtKB", "id": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" } ], "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": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" } ], "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": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" } ], "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": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via STAT", "id": "GO:0097696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097696", "evidence": [ { "database": "UniProtKB", "id": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" } ], "pmid": "" }, { "name": "cytokine binding", "id": "GO:0019955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019955", "evidence": [ { "database": "UniProtKB", "id": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" } ], "pmid": "" }, { "name": "cytokine receptor activity", "id": "GO:0004896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004896", "evidence": [ { "database": "UniProtKB", "id": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" } ], "pmid": "" }, { "name": "ciliary neurotrophic factor receptor binding", "id": "GO:0005127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005127", "evidence": [ { "database": "UniProtKB", "id": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" } ], "pmid": "" }, { "name": "protein carrier chaperone", "id": "GO:0140597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140597", "evidence": [ { "database": "UniProtKB", "id": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JM58-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Asn107", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G11101UV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LLNTSTLALALANLNGSR", "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": "Q9JM58", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JM58#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JM58-1", "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": "Q9JM58", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JM58#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JM58-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Asn171", "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": "WTPGAHGETFLHTNYSLK", "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": "Q9JM58", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JM58#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JM58-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Asn295", "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": "VVDDVSNQTSCR", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 295, "start_aa": "Asn", "end_pos": 295, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "Q9JM58", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JM58#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JM58-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Asn385", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 385, "start_aa": "Asn", "end_pos": 385, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn385", "evidence": [ { "id": "Q9JM58", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JM58#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JM58-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Asn95", "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": "LLNTSTLALALANLNGSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 95, "start_aa": "Asn", "end_pos": 95, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn95", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 95, "start_aa": "Asn", "end_pos": 95, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn95", "evidence": [ { "id": "Q9JM58", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JM58#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JM58-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Ser222", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JM58", "url": "https://www.uniprot.org/uniprotkb/Q9JM58" }, { "database": "PubMed", "id": "15378723", "url": "https://glygen.org/publication/PubMed/15378723" }, { "database": "iPTMnet", "id": "Q9JM58", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JM58" } ] } ] }, { "uniprot_canonical_ac": "Q9JM58-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Thr297", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NQT->NQI).", "chr_id": "8", "chr_pos": "70953785", "evidence": [ { "id": "rs3388958870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388958870" } ] } ] } ], "record_id": "Q9JM58-1" }, { "uniprot_canonical_ac": "P19783-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P19783", "url": "https://www.uniprot.org/uniprotkb/P19783" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 169, "chemical_mass": 19530.0, "gene_names": "Cox4i1;COX IV-1;COXIV;COX;Cox4a;Cox4i1;Cox4;Coxiv;IV-1", "protein_name": "Cytochrome c oxidase subunit 4 isoform 1, mitochondrial", "disease": [ { "disease_id": "DOID:0070501", "name": "mitochondrial complex IV deficiency nuclear type 16", "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1.", "url": "https://disease-ontology.org/term/DOID:0070501", "evidence": [ { "id": "0070501", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070501" } ], "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:3762", "name": "cytochrome-c oxidase deficiency disease", "description": "A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.", "url": "https://disease-ontology.org/term/DOID:3762", "evidence": [ { "id": "3762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3762" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P19783", "url": "https://www.uniprot.org/uniprotkb/P19783" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P19783", "url": "https://www.uniprot.org/uniprotkb/P19783" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P19783", "url": "https://www.uniprot.org/uniprotkb/P19783" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P19783", "url": "https://www.uniprot.org/uniprotkb/P19783" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P19783", "url": "https://www.uniprot.org/uniprotkb/P19783" } ], "pmid": "" }, { "name": "respiratory chain complex IV", "id": "GO:0045277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045277", "evidence": [ { "database": "UniProtKB", "id": "P19783", "url": "https://www.uniprot.org/uniprotkb/P19783" } ], "pmid": "" } ], "biological_process": [ { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P19783", "url": "https://www.uniprot.org/uniprotkb/P19783" } ], "pmid": "" }, { "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": "P19783", "url": "https://www.uniprot.org/uniprotkb/P19783" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P19783-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Asn87", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G07810QS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VQLYRIQFNESFAEMNR", "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" } ] } ] }, { "uniprot_canonical_ac": "P19783-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Ser56", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19783", "url": "https://www.uniprot.org/uniprotkb/P19783" } ] } ] }, { "uniprot_canonical_ac": "P19783-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ser58", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19783", "url": "https://www.uniprot.org/uniprotkb/P19783" } ] } ] } ], "record_id": "P19783-1" }, { "uniprot_canonical_ac": "E9QA28-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9QA28", "url": "https://www.uniprot.org/uniprotkb/E9QA28" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 426, "chemical_mass": 46352.0, "gene_names": "Ceacam16;Ceacam16;Gm769", "protein_name": "Cell adhesion molecule CEACAM16", "disease": [ { "disease_id": "DOID:0110573", "name": "autosomal dominant nonsyndromic deafness 4A", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33.", "url": "https://disease-ontology.org/term/DOID:0110573", "evidence": [ { "id": "0110573", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110573" } ], "weight": 0.0 }, { "disease_id": "DOID:0110574", "name": "autosomal dominant nonsyndromic deafness 4B", "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0110574", "evidence": [ { "id": "0110574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110574" } ], "weight": 0.0 }, { "disease_id": "DOID:0111636", "name": "autosomal recessive nonsyndromic deafness 113", "description": "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0111636", "evidence": [ { "id": "0111636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111636" } ], "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": "E9QA28", "url": "https://www.uniprot.org/uniprotkb/E9QA28" } ], "pmid": "" }, { "name": "stereocilium tip", "id": "GO:0032426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032426", "evidence": [ { "database": "UniProtKB", "id": "E9QA28", "url": "https://www.uniprot.org/uniprotkb/E9QA28" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "E9QA28", "url": "https://www.uniprot.org/uniprotkb/E9QA28" } ], "pmid": "" } ], "biological_process": [ { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "E9QA28", "url": "https://www.uniprot.org/uniprotkb/E9QA28" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9QA28-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Asn217", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "E9QA28", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9QA28#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "E9QA28-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Asn246", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G44613TH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VAILQDSTTRTGCTIKVDFNMSLTLWCVAR", "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": "E9QA28-1", "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": "EVGFANCSLLVQK", "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" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->YCS).", "chr_id": "7", "chr_pos": "19587611", "evidence": [ { "id": "rs3388891670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388891670" } ] } ] }, { "uniprot_canonical_ac": "E9QA28-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Asn38", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "E9QA28", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9QA28#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "E9QA28-1", "start_pos": "395", "end_pos": "395", "site_lbl": "Asn395", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92942VI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LNLTDAGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 395, "start_aa": "Asn", "end_pos": 395, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn395", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "E9QA28-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Ser388", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->NCP).", "chr_id": "7", "chr_pos": "19587605", "evidence": [ { "id": "rs3388879891", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388879891" } ] } ] }, { "uniprot_canonical_ac": "E9QA28-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Thr142", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Does not affect the interaction with TECTA nor subcellular localization.", "evidence": [ { "database": "UniProtKB", "id": "E9QA28", "url": "https://www.uniprot.org/uniprotkb/E9QA28" }, { "database": "PubMed", "id": "21368133", "url": "https://glygen.org/publication/PubMed/21368133" } ] } ] } ], "record_id": "E9QA28-1" }, { "uniprot_canonical_ac": "Q9WUB7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WUB7", "url": "https://www.uniprot.org/uniprotkb/Q9WUB7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 687, "chemical_mass": 75684.0, "gene_names": "Clcnka;CLC-K1;Clcnk1;Clcnka", "protein_name": "Chloride channel protein ClC-Ka", "disease": [ { "disease_id": "DOID:0050450", "name": "Gitelman syndrome", "description": "A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting).", "url": "https://disease-ontology.org/term/DOID:0050450", "evidence": [ { "id": "0050450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050450" } ], "weight": 0.0 }, { "disease_id": "DOID:0110144", "name": "Bartter disease type 3", "description": "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0110144", "evidence": [ { "id": "0110144", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110144" } ], "weight": 0.0 }, { "disease_id": "DOID:0110146", "name": "Bartter disease type 4b", "description": "A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes.", "url": "https://disease-ontology.org/term/DOID:0110146", "evidence": [ { "id": "0110146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110146" } ], "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: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:12387", "name": "nephrogenic diabetes insipidus", "description": "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).", "url": "https://disease-ontology.org/term/DOID:12387", "evidence": [ { "id": "12387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12387" } ], "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": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB7", "url": "https://www.uniprot.org/uniprotkb/Q9WUB7" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB7", "url": "https://www.uniprot.org/uniprotkb/Q9WUB7" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB7", "url": "https://www.uniprot.org/uniprotkb/Q9WUB7" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB7", "url": "https://www.uniprot.org/uniprotkb/Q9WUB7" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB7", "url": "https://www.uniprot.org/uniprotkb/Q9WUB7" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB7", "url": "https://www.uniprot.org/uniprotkb/Q9WUB7" } ], "pmid": "" }, { "name": "voltage-gated chloride channel activity", "id": "GO:0005247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005247", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB7", "url": "https://www.uniprot.org/uniprotkb/Q9WUB7" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB7", "url": "https://www.uniprot.org/uniprotkb/Q9WUB7" } ], "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": "Q9WUB7", "url": "https://www.uniprot.org/uniprotkb/Q9WUB7" } ], "pmid": "" } ], "biological_process": [ { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB7", "url": "https://www.uniprot.org/uniprotkb/Q9WUB7" } ], "pmid": "" }, { "name": "regulation of body fluid levels", "id": "GO:0050878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050878", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB7", "url": "https://www.uniprot.org/uniprotkb/Q9WUB7" } ], "pmid": "" }, { "name": "transepithelial chloride transport", "id": "GO:0030321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030321", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB7", "url": "https://www.uniprot.org/uniprotkb/Q9WUB7" } ], "pmid": "" }, { "name": "renal inner medulla development", "id": "GO:0072053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072053", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB7", "url": "https://www.uniprot.org/uniprotkb/Q9WUB7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WUB7-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Val166", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Reduces the unit conductance from 40 pS to around 20 pS; displays outward rectification with half maximal activation voltage shifted to more positive potentials.", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB7", "url": "https://www.uniprot.org/uniprotkb/Q9WUB7" }, { "database": "PubMed", "id": "23791703", "url": "https://glygen.org/publication/PubMed/23791703" } ] }, { "sequence_org": "V", "sequence_mut": "L", "comment": "No significant effect on the unit conductance.", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB7", "url": "https://www.uniprot.org/uniprotkb/Q9WUB7" }, { "database": "PubMed", "id": "23791703", "url": "https://glygen.org/publication/PubMed/23791703" } ] }, { "sequence_org": "V", "sequence_mut": "M", "comment": "Moderately reduces the unit conductance.", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB7", "url": "https://www.uniprot.org/uniprotkb/Q9WUB7" }, { "database": "PubMed", "id": "23791703", "url": "https://glygen.org/publication/PubMed/23791703" } ] } ] } ], "record_id": "Q9WUB7-1" }, { "uniprot_canonical_ac": "P53996-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 178, "chemical_mass": 19592.0, "gene_names": "Cnbp;Cnbp1;Cnbp;Znf9", "protein_name": "CCHC-type zinc finger nucleic acid binding protein", "disease": [ { "disease_id": "DOID:0050759", "name": "myotonic dystrophy type 2", "description": "A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.", "url": "https://disease-ontology.org/term/DOID:0050759", "evidence": [ { "id": "0050759", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050759" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of cytoplasmic translation", "id": "GO:2000767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000767", "evidence": [ { "database": "UniProtKB", "id": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "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": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "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": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "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": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "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": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "pmid": "" }, { "name": "G-quadruplex DNA formation", "id": "GO:0071919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071919", "evidence": [ { "database": "UniProtKB", "id": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "pmid": "" }, { "name": "single-stranded RNA binding", "id": "GO:0003727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003727", "evidence": [ { "database": "UniProtKB", "id": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "pmid": "" }, { "name": "translation regulator activity", "id": "GO:0045182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045182", "evidence": [ { "database": "UniProtKB", "id": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "pmid": "" }, { "name": "G-quadruplex DNA binding", "id": "GO:0051880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051880", "evidence": [ { "database": "UniProtKB", "id": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P53996-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Ser49", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53996", "url": "https://www.uniprot.org/uniprotkb/P53996" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P53996", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P53996" } ] } ] } ], "record_id": "P53996-1" }, { "uniprot_canonical_ac": "Q00322-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 268, "chemical_mass": 28631.0, "gene_names": "Cebpd;Cebpd;Crp3;c/EBPdelta", "protein_name": "CCAAT/enhancer-binding protein delta", "disease": [ { "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 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "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": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "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": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "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": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "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": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "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": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "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": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "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": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "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": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "Q00322", "url": "https://www.uniprot.org/uniprotkb/Q00322" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q00322-1", "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": "Q00322-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Ser167", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q00322", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q00322" }, { "database": "PubMed", "id": "23993701", "url": "https://glygen.org/publication/PubMed/23993701" } ] } ] } ], "record_id": "Q00322-1" }, { "uniprot_canonical_ac": "Q6PZD9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 281, "chemical_mass": 30617.0, "gene_names": "Cebpe;C/EBPepsilon;C/EBPe;CRP1;Cebpe;Gm294", "protein_name": "CCAAT/enhancer-binding protein epsilon", "disease": [ { "disease_id": "DOID:0061077", "name": "immunodeficiency 108", "description": "A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11.", "url": "https://disease-ontology.org/term/DOID:0061077", "evidence": [ { "id": "0061077", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061077" } ], "weight": 0.0 } ], "biological_process": [ { "name": "granulocyte differentiation", "id": "GO:0030851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030851", "evidence": [ { "database": "UniProtKB", "id": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "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": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "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": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "pmid": "" }, { "name": "myeloid cell differentiation", "id": "GO:0030099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030099", "evidence": [ { "database": "UniProtKB", "id": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "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": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "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": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "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": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "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": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "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": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PZD9-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Ser181", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PZD9", "url": "https://www.uniprot.org/uniprotkb/Q6PZD9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PZD9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PZD9" } ] } ] } ], "record_id": "Q6PZD9-1" }, { "uniprot_canonical_ac": "Q7TSG1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 988, "chemical_mass": 112579.0, "gene_names": "Cep120;A230075C01;Ccdc100;Cep120", "protein_name": "Centrosomal protein of 120 kDa", "disease": [ { "disease_id": "DOID:0080277", "name": "Joubert syndrome 31", "description": "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23.", "url": "https://disease-ontology.org/term/DOID:0080277", "evidence": [ { "id": "0080277", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080277" } ], "weight": 0.0 }, { "disease_id": "DOID:0110093", "name": "short-rib thoracic dysplasia 13 with or without polydactyly", "description": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23.", "url": "https://disease-ontology.org/term/DOID:0110093", "evidence": [ { "id": "0110093", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110093" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of establishment of protein localization", "id": "GO:1904951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904951", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" } ], "pmid": "" }, { "name": "regulation of microtubule-based process", "id": "GO:0032886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032886", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" } ], "pmid": "" }, { "name": "centrosome cycle", "id": "GO:0007098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007098", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" } ], "pmid": "" }, { "name": "positive regulation of cilium assembly", "id": "GO:0045724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045724", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" } ], "pmid": "" }, { "name": "positive regulation of centriole elongation", "id": "GO:1903724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903724", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" } ], "pmid": "" }, { "name": "positive regulation of centrosome duplication", "id": "GO:0010825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010825", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" } ], "pmid": "" }, { "name": "interkinetic nuclear migration", "id": "GO:0022027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022027", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" } ], "pmid": "" }, { "name": "astral microtubule organization", "id": "GO:0030953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030953", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" } ], "pmid": "" } ], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TSG1-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Thr331", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 331, "start_aa": "Thr", "end_pos": 331, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr331", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q7TSG1-1", "start_pos": "934", "end_pos": "934", "site_lbl": "Ser934", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TSG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TSG1" } ] } ] }, { "uniprot_canonical_ac": "Q7TSG1-1", "start_pos": "938", "end_pos": "938", "site_lbl": "Ser938", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TSG1", "url": "https://www.uniprot.org/uniprotkb/Q7TSG1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TSG1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TSG1" } ] } ] } ], "record_id": "Q7TSG1-1" }, { "uniprot_canonical_ac": "Q8BI22-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1102, "chemical_mass": 128503.0, "gene_names": "Cep128;4930534B04Rik;5430424K18Rik;Cep128;E230024F20", "protein_name": "Centrosomal protein 128", "disease": [], "biological_process": [ { "name": "regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0017015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017015", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ], "pmid": "" }, { "name": "negative regulation of cilium assembly", "id": "GO:1902018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902018", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ], "pmid": "" }, { "name": "motile cilium assembly", "id": "GO:0044458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044458", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ], "pmid": "" }, { "name": "positive regulation of protein localization", "id": "GO:1903829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903829", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ], "pmid": "" }, { "name": "sperm flagellum assembly", "id": "GO:0120316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120316", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ], "pmid": "" } ], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ], "pmid": "" }, { "name": "centriolar subdistal appendage", "id": "GO:0120103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120103", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ], "pmid": "" }, { "name": "sperm head-tail coupling apparatus", "id": "GO:0120212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120212", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BI22-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Ser248", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BI22", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BI22" } ] } ] }, { "uniprot_canonical_ac": "Q8BI22-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Ser290", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ] } ] }, { "uniprot_canonical_ac": "Q8BI22-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Ser31", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" } ] } ] }, { "uniprot_canonical_ac": "Q8BI22-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Arg222", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Homozygous knockin males have impaired spermatogenesis, reduced sperm count and motility, and abnormal sperm morphology.", "evidence": [ { "database": "UniProtKB", "id": "Q8BI22", "url": "https://www.uniprot.org/uniprotkb/Q8BI22" }, { "database": "PubMed", "id": "35296684", "url": "https://glygen.org/publication/PubMed/35296684" } ] } ] } ], "record_id": "Q8BI22-1" }, { "uniprot_canonical_ac": "Q9D5U8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D5U8", "url": "https://www.uniprot.org/uniprotkb/Q9D5U8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 673, "chemical_mass": 77892.0, "gene_names": "Cnbd2;4921517L17Rik;5430421B09Rik;Cnbd2;Cris", "protein_name": "Cyclic nucleotide-binding domain-containing protein 2", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9D5U8", "url": "https://www.uniprot.org/uniprotkb/Q9D5U8" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q9D5U8", "url": "https://www.uniprot.org/uniprotkb/Q9D5U8" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9D5U8", "url": "https://www.uniprot.org/uniprotkb/Q9D5U8" } ], "pmid": "" } ], "molecular_function": [ { "name": "cAMP binding", "id": "GO:0030552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030552", "evidence": [ { "database": "UniProtKB", "id": "Q9D5U8", "url": "https://www.uniprot.org/uniprotkb/Q9D5U8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D5U8-1" }, { "uniprot_canonical_ac": "Q9JJN6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 81, "chemical_mass": 9174.0, "gene_names": "Ctnnbip1;1110008O09Rik;2310001I19Rik;Catnbip1;Ctnnbip1;Icat", "protein_name": "Beta-catenin-interacting protein 1", "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": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "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": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "pmid": "" }, { "name": "positive regulation of monocyte differentiation", "id": "GO:0045657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045657", "evidence": [ { "database": "UniProtKB", "id": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "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": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "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": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "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": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "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": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "pmid": "" }, { "name": "regulation of vascular permeability involved in acute inflammatory response", "id": "GO:0002528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002528", "evidence": [ { "database": "UniProtKB", "id": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "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": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "pmid": "" }, { "name": "negative regulation of mesenchymal cell proliferation", "id": "GO:0072201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072201", "evidence": [ { "database": "UniProtKB", "id": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "pmid": "" }, { "name": "beta-catenin destruction complex", "id": "GO:0030877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030877", "evidence": [ { "database": "UniProtKB", "id": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "pmid": "" } ], "molecular_function": [ { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "pmid": "" }, { "name": "armadillo repeat domain binding", "id": "GO:0070016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070016", "evidence": [ { "database": "UniProtKB", "id": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "pmid": "" }, { "name": "transcription regulator inhibitor activity", "id": "GO:0140416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140416", "evidence": [ { "database": "UniProtKB", "id": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JJN6-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Ser59", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JJN6", "url": "https://www.uniprot.org/uniprotkb/Q9JJN6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JJN6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JJN6" } ] } ] } ], "record_id": "Q9JJN6-1" }, { "uniprot_canonical_ac": "Q91YT8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91YT8", "url": "https://www.uniprot.org/uniprotkb/Q91YT8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 804, "chemical_mass": 91860.0, "gene_names": "Tmem63a;Kiaa0792;Tmem63a;Tmem64a", "protein_name": "Mechanosensitive cation channel TMEM63A", "disease": [ { "disease_id": "DOID:0070400", "name": "hypomyelinating leukodystrophy 19", "description": "A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42.", "url": "https://disease-ontology.org/term/DOID:0070400", "evidence": [ { "id": "0070400", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070400" } ], "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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91YT8", "url": "https://www.uniprot.org/uniprotkb/Q91YT8" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q91YT8", "url": "https://www.uniprot.org/uniprotkb/Q91YT8" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q91YT8", "url": "https://www.uniprot.org/uniprotkb/Q91YT8" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q91YT8", "url": "https://www.uniprot.org/uniprotkb/Q91YT8" } ], "pmid": "" } ], "molecular_function": [ { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q91YT8", "url": "https://www.uniprot.org/uniprotkb/Q91YT8" } ], "pmid": "" }, { "name": "calcium-activated cation channel activity", "id": "GO:0005227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005227", "evidence": [ { "database": "UniProtKB", "id": "Q91YT8", "url": "https://www.uniprot.org/uniprotkb/Q91YT8" } ], "pmid": "" }, { "name": "mechanosensitive monoatomic ion channel activity", "id": "GO:0008381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008381", "evidence": [ { "database": "UniProtKB", "id": "Q91YT8", "url": "https://www.uniprot.org/uniprotkb/Q91YT8" } ], "pmid": "" }, { "name": "osmolarity-sensing monoatomic cation channel activity", "id": "GO:1990760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990760", "evidence": [ { "database": "UniProtKB", "id": "Q91YT8", "url": "https://www.uniprot.org/uniprotkb/Q91YT8" } ], "pmid": "" } ], "biological_process": [ { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q91YT8", "url": "https://www.uniprot.org/uniprotkb/Q91YT8" } ], "pmid": "" }, { "name": "surfactant secretion", "id": "GO:0160069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160069", "evidence": [ { "database": "UniProtKB", "id": "Q91YT8", "url": "https://www.uniprot.org/uniprotkb/Q91YT8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91YT8-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Asn28", "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": "LGLGERPNDSYCYNSAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 28, "start_aa": "Asn", "end_pos": 28, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn28", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q91YT8-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Asn327", "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": "MNDSLLER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 327, "start_aa": "Asn", "end_pos": 327, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn327", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q91YT8-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Asn38", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q91YT8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91YT8#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "Q91YT8-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Asn409", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G43591AT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NLSIQGVR", "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": "Q91YT8-1", "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": "Q91YT8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91YT8#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->IVT).", "chr_id": "1", "chr_pos": "180790689", "evidence": [ { "id": "rs3388522121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388522121" } ] } ] }, { "uniprot_canonical_ac": "Q91YT8-1", "start_pos": "738", "end_pos": "738", "site_lbl": "Ser738", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YT8", "url": "https://www.uniprot.org/uniprotkb/Q91YT8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YT8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YT8" } ] } ] }, { "uniprot_canonical_ac": "Q91YT8-1", "start_pos": "794", "end_pos": "794", "site_lbl": "Ser794", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SGT->NGT).", "chr_id": "1", "chr_pos": "180801867", "evidence": [ { "id": "rs3388522007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388522007" } ] } ] }, { "uniprot_canonical_ac": "Q91YT8-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Trp472", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "K", "comment": "Converts the channel into a constitutively active phospholipid scramblase.", "evidence": [ { "database": "UniProtKB", "id": "Q91YT8", "url": "https://www.uniprot.org/uniprotkb/Q91YT8" }, { "database": "PubMed", "id": "39495104", "url": "https://glygen.org/publication/PubMed/39495104" } ] } ] }, { "uniprot_canonical_ac": "Q91YT8-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Ser475", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "K", "comment": "Converts the channel into a constitutively active phospholipid scramblase.", "evidence": [ { "database": "UniProtKB", "id": "Q91YT8", "url": "https://www.uniprot.org/uniprotkb/Q91YT8" }, { "database": "PubMed", "id": "39495104", "url": "https://glygen.org/publication/PubMed/39495104" } ] } ] }, { "uniprot_canonical_ac": "Q91YT8-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Ala476", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "K", "comment": "Does not convert the channel into a phospholipid scramblase.", "evidence": [ { "database": "UniProtKB", "id": "Q91YT8", "url": "https://www.uniprot.org/uniprotkb/Q91YT8" }, { "database": "PubMed", "id": "39495104", "url": "https://glygen.org/publication/PubMed/39495104" } ] } ] } ], "record_id": "Q91YT8-1" }, { "uniprot_canonical_ac": "P0CG14-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P0CG14", "url": "https://www.uniprot.org/uniprotkb/P0CG14" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 533, "chemical_mass": 52244.0, "gene_names": "Derpc;5830457O10Rik;Chtf8;Ctf8;Derpc", "protein_name": "Decreased expression in renal and prostate cancer protein", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P0CG14", "url": "https://www.uniprot.org/uniprotkb/P0CG14" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P0CG14-1", "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": "P0CG14-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Ser297", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 297, "start_aa": "Ser", "end_pos": 297, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser297", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P0CG14", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P0CG14" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P0CG14", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P0CG14" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "P0CG14-1", "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": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P0CG14", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P0CG14" } ] } ] }, { "uniprot_canonical_ac": "P0CG14-1", "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": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P0CG14", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P0CG14" }, { "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": "P0CG14-1", "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": "P0CG14", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P0CG14" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "P0CG14", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P0CG14" }, { "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": "P0CG14-1", "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": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P0CG14", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P0CG14" } ] } ] }, { "uniprot_canonical_ac": "P0CG14-1", "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": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P0CG14", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P0CG14" } ] } ] }, { "uniprot_canonical_ac": "P0CG14-1", "start_pos": "386", "end_pos": "386", "site_lbl": "Thr386", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 386, "start_aa": "Thr", "end_pos": 386, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr386", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P0CG14", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P0CG14" } ] } ] }, { "uniprot_canonical_ac": "P0CG14-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Ser160", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P0CG14", "url": "https://www.uniprot.org/uniprotkb/P0CG14" } ] } ] }, { "uniprot_canonical_ac": "P0CG14-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Ser432", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P0CG14", "url": "https://www.uniprot.org/uniprotkb/P0CG14" } ] } ] } ], "record_id": "P0CG14-1" }, { "uniprot_canonical_ac": "P50462-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 194, "chemical_mass": 20895.0, "gene_names": "Csrp3;CRP3;Clp;Csrp3;MLP;MMLP;Mlp", "protein_name": "Cysteine and glycine-rich protein 3", "disease": [ { "disease_id": "DOID:0110318", "name": "hypertrophic cardiomyopathy 12", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0110318", "evidence": [ { "id": "0110318", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110318" } ], "weight": 0.0 }, { "disease_id": "DOID:0110449", "name": "dilated cardiomyopathy 1M", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0110449", "evidence": [ { "id": "0110449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110449" } ], "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: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": "positive regulation of myotube differentiation", "id": "GO:0010831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010831", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "detection of muscle stretch", "id": "GO:0035995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035995", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "establishment of protein localization to organelle", "id": "GO:0072594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072594", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "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": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy", "id": "GO:0003300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003300", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "cardiac muscle tissue development", "id": "GO:0048738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048738", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "cardiac myofibril assembly", "id": "GO:0055003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055003", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "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": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "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": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "T-tubule organization", "id": "GO:0033292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033292", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "muscle tissue development", "id": "GO:0060537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060537", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "negative regulation of actin filament severing", "id": "GO:1903919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903919", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "positive regulation of actin filament severing", "id": "GO:1903920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903920", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "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": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "structural constituent of muscle", "id": "GO:0008307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008307", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "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": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "MRF binding", "id": "GO:0043426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043426", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "telethonin binding", "id": "GO:0031433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031433", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "actinin binding", "id": "GO:0042805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042805", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P50462-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Ser111", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P50462", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P50462" } ] } ] }, { "uniprot_canonical_ac": "P50462-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Ser153", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" } ] } ] }, { "uniprot_canonical_ac": "P50462-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Ser95", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P50462", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P50462" } ] } ] }, { "uniprot_canonical_ac": "P50462-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Trp4", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Mice develop an age- and gene dosage-dependent hypertrophic cardiomyopathy and heart failure phenotype, characterized by almost complete loss of contractile reserve under catecholamine induced stress. They display increased in septum wall thickness, fractional shortening, and wall thickness per diameter (h/r). There is also evidence for skeletal muscle pathology. In addition, homozygous mutants show increased left ventricle (LC) mass per body weight (BW) and significantly reduced body weight. An increased nuclear localization of Csrp3 is also observed. Decreases interaction with TCAP.", "evidence": [ { "database": "UniProtKB", "id": "P50462", "url": "https://www.uniprot.org/uniprotkb/P50462" }, { "database": "PubMed", "id": "20044516", "url": "https://glygen.org/publication/PubMed/20044516" } ] } ] } ], "record_id": "P50462-1" }, { "uniprot_canonical_ac": "Q640M6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 607, "chemical_mass": 68890.0, "gene_names": "Gdpd5;Gde2;Gdpd5", "protein_name": "Glycerophosphodiester phosphodiesterase 2", "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": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "glycerophosphodiester phosphodiesterase activity", "id": "GO:0008889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008889", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "glycerophosphocholine phosphodiesterase activity", "id": "GO:0047389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047389", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "phosphoric diester hydrolase activity", "id": "GO:0008081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008081", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum", "id": "GO:0097038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097038", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "spinal cord motor neuron differentiation", "id": "GO:0021522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021522", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "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": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "cerebral cortex neuron differentiation", "id": "GO:0021895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021895", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "regulation of timing of cell differentiation", "id": "GO:0048505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048505", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q640M6", "url": "https://www.uniprot.org/uniprotkb/Q640M6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q640M6-1", "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": "RPAAMLNWTVLQR", "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": "Q640M6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q640M6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q640M6-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Asn336", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G99679NM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EVQNQSICSLAELLELAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 336, "start_aa": "Asn", "end_pos": 336, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn336", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 336, "start_aa": "Asn", "end_pos": 336, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn336", "evidence": [ { "id": "Q640M6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q640M6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q640M6-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Asn352", "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": "GNASLLLNLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 352, "start_aa": "Asn", "end_pos": 352, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn352", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 352, "start_aa": "Asn", "end_pos": 352, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn352", "evidence": [ { "id": "Q640M6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q640M6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q640M6-1", "start_pos": "374", "end_pos": "374", "site_lbl": "Asn374", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G85554PZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GSFLNVTLEAVLR", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 374, "start_aa": "Asn", "end_pos": 374, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn374", "evidence": [ { "id": "Q640M6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q640M6#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->YVT).", "chr_id": "7", "chr_pos": "99103162", "evidence": [ { "id": "rs3388930989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388930989" } ] } ] }, { "uniprot_canonical_ac": "Q640M6-1", "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": "Q640M6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q640M6#ptm_processing" } ] } ] } ], "record_id": "Q640M6-1" }, { "uniprot_canonical_ac": "Q8K0X8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 392, "chemical_mass": 45215.0, "gene_names": "Fez1;Fez1;UNC-76;UNC76", "protein_name": "Fasciculation and elongation protein zeta-1", "disease": [ { "disease_id": "DOID:0111723", "name": "Jacobsen Syndrome", "description": "A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q.", "url": "https://disease-ontology.org/term/DOID:0111723", "evidence": [ { "id": "0111723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111723" } ], "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: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 autophagosome assembly", "id": "GO:1902902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902902", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "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": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "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": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" }, { "name": "establishment of mitochondrion localization", "id": "GO:0051654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051654", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" }, { "name": "positive regulation of anterograde axonal transport of mitochondrion", "id": "GO:0061881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061881", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" }, { "name": "gamma-tubulin binding", "id": "GO:0043015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043015", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K0X8-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Ser298", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" } ] } ] }, { "uniprot_canonical_ac": "Q8K0X8-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Ser316", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K0X8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K0X8" } ] } ] }, { "uniprot_canonical_ac": "Q8K0X8-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ser58", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K0X8", "url": "https://www.uniprot.org/uniprotkb/Q8K0X8" }, { "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": "Q8K0X8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K0X8" }, { "database": "PubMed", "id": "27247180", "url": "https://glygen.org/publication/PubMed/27247180" } ] } ] } ], "record_id": "Q8K0X8-1" }, { "uniprot_canonical_ac": "Q499D0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q499D0", "url": "https://www.uniprot.org/uniprotkb/Q499D0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 457, "chemical_mass": 50345.0, "gene_names": "Foxn3;5430426H20Rik;Ches1l;Ches1;Foxn3;HTLFL1", "protein_name": "Forkhead box protein N3", "disease": [], "biological_process": [ { "name": "craniofacial suture morphogenesis", "id": "GO:0097094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097094", "evidence": [ { "database": "UniProtKB", "id": "Q499D0", "url": "https://www.uniprot.org/uniprotkb/Q499D0" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q499D0", "url": "https://www.uniprot.org/uniprotkb/Q499D0" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q499D0", "url": "https://www.uniprot.org/uniprotkb/Q499D0" } ], "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": "Q499D0", "url": "https://www.uniprot.org/uniprotkb/Q499D0" } ], "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": "Q499D0", "url": "https://www.uniprot.org/uniprotkb/Q499D0" } ], "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": "Q499D0", "url": "https://www.uniprot.org/uniprotkb/Q499D0" } ], "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": "Q499D0", "url": "https://www.uniprot.org/uniprotkb/Q499D0" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q499D0", "url": "https://www.uniprot.org/uniprotkb/Q499D0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q499D0", "url": "https://www.uniprot.org/uniprotkb/Q499D0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q499D0-1", "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": "Q499D0-1", "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": "Q499D0-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Ser415", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q499D0", "url": "https://www.uniprot.org/uniprotkb/Q499D0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q499D0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q499D0" } ] } ] }, { "uniprot_canonical_ac": "Q499D0-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Ser83", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q499D0", "url": "https://www.uniprot.org/uniprotkb/Q499D0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q499D0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q499D0" } ] } ] }, { "uniprot_canonical_ac": "Q499D0-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Ser85", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q499D0", "url": "https://www.uniprot.org/uniprotkb/Q499D0" } ] } ] }, { "uniprot_canonical_ac": "Q499D0-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Ser97", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q499D0", "url": "https://www.uniprot.org/uniprotkb/Q499D0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q499D0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q499D0" } ] } ] } ], "record_id": "Q499D0-1" }, { "uniprot_canonical_ac": "P35583-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 459, "chemical_mass": 48498.0, "gene_names": "Foxa2;Foxa2;HNF3-beta;HNF3beta;Hnf-3b;Hnf3b;Tcf-3b;Tcf3b", "protein_name": "Hepatocyte nuclear factor 3-beta", "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: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": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "regulation of lipid metabolic process", "id": "GO:0019216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019216", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "positive regulation of embryonic development", "id": "GO:0040019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040019", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "endocrine pancreas development", "id": "GO:0031018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031018", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "cellular response to cadmium ion", "id": "GO:0071276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071276", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "neuron fate specification", "id": "GO:0048665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048665", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "lung epithelial cell differentiation", "id": "GO:0060487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060487", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "regulation of blood coagulation", "id": "GO:0030193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030193", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "cell differentiation in hindbrain", "id": "GO:0021533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021533", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "regulation of steroid metabolic process", "id": "GO:0019218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019218", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "connective tissue development", "id": "GO:0061448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061448", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "response to interleukin-6", "id": "GO:0070741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070741", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "dorsal/ventral neural tube patterning", "id": "GO:0021904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021904", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "somite rostral/caudal axis specification", "id": "GO:0032525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032525", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "primitive streak formation", "id": "GO:0090009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090009", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "ectoderm formation", "id": "GO:0001705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001705", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "glucose mediated signaling pathway", "id": "GO:0010255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010255", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "positive regulation of gastrulation", "id": "GO:2000543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000543", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "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": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P35583-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Thr156", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" }, { "database": "PubMed", "id": "15616563", "url": "https://glygen.org/publication/PubMed/15616563" }, { "database": "iPTMnet", "id": "P35583", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35583" }, { "database": "PubMed", "id": "32034274", "url": "https://glygen.org/publication/PubMed/32034274" } ] } ] }, { "uniprot_canonical_ac": "P35583-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ser212", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ] } ] }, { "uniprot_canonical_ac": "P35583-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Ser284", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ] } ] }, { "uniprot_canonical_ac": "P35583-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Thr302", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P35583", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35583" } ] } ] }, { "uniprot_canonical_ac": "P35583-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Ser304", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ] } ] }, { "uniprot_canonical_ac": "P35583-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Ser307", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ] } ] }, { "uniprot_canonical_ac": "P35583-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Ser308", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ] } ] }, { "uniprot_canonical_ac": "P35583-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Ser310", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ] } ] }, { "uniprot_canonical_ac": "P35583-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Ser438", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ] } ] }, { "uniprot_canonical_ac": "P35583-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Ser459", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35583", "url": "https://www.uniprot.org/uniprotkb/P35583" } ] } ] } ], "record_id": "P35583-1" }, { "uniprot_canonical_ac": "P63137-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 512, "chemical_mass": 59197.0, "gene_names": "Gabrb2;C030002O17Rik;C030021G16Rik;Gabrab2;Gabrb-2;Gabrb2", "protein_name": "Gamma-aminobutyric acid receptor subunit beta-2", "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:0080471", "name": "developmental and epileptic encephalopathy 92", "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34.", "url": "https://disease-ontology.org/term/DOID:0080471", "evidence": [ { "id": "0080471", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080471" } ], "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: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 } ], "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": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "innervation", "id": "GO:0060384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060384", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid signaling pathway", "id": "GO:0007214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007214", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "inner ear receptor cell development", "id": "GO:0060119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060119", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "cellular response to histamine", "id": "GO:0071420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071420", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "synaptic transmission, GABAergic", "id": "GO:0051932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051932", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "inhibitory synapse assembly", "id": "GO:1904862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904862", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "GABA receptor complex", "id": "GO:1902710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902710", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "GABA-A receptor complex", "id": "GO:1902711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902711", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "postsynaptic specialization membrane", "id": "GO:0099634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099634", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" } ], "molecular_function": [ { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "GABA-A receptor activity", "id": "GO:0004890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004890", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" }, { "name": "inhibitory extracellular ligand-gated monoatomic ion channel activity", "id": "GO:0005237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005237", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "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": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "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": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "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": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P63137-1", "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": "LSYNVIPLNLTLDNR", "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": "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": 104, "start_aa": "Asn", "end_pos": 104, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn104", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2325", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2325" } ] }, { "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": 104, "start_aa": "Asn", "end_pos": 104, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn104", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2325", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2325" } ] }, { "glytoucan_ac": "G22573RC", "type": "N-linked", "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=8G4X&bu=0&command=select+.B:80;+center+selection;+zoom+selection" }, "start_pos": 104, "start_aa": "Asn", "end_pos": 104, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn104", "evidence": [ { "id": "8G4X", "database": "PDB", "url": "https://www.rcsb.org/structure/8G4X" }, { "id": "8G4X", "database": "PDB", "url": "https://www.rcsb.org/structure/8G4X" }, { "id": "8G4X|B|80", "database": "", "url": "" } ] }, { "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=8FOI&bu=0&command=select+.E:80;+center+selection;+zoom+selection" }, "start_pos": 104, "start_aa": "Asn", "end_pos": 104, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn104", "evidence": [ { "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|E|80", "database": "", "url": "" }, { "id": "8FOI|B|80", "database": "", "url": "" }, { "id": "8G4N|E|80", "database": "", "url": "" }, { "id": "8G4N|B|80", "database": "", "url": "" }, { "id": "8G4O|E|80", "database": "", "url": "" }, { "id": "8G4O|B|80", "database": "", "url": "" }, { "id": "8G4X|E|80", "database": "", "url": "" }, { "id": "8G5G|B|80", "database": "", "url": "" }, { "id": "8G5G|E|80", "database": "", "url": "" }, { "id": "8G5H|E|80", "database": "", "url": "" }, { "id": "8G5H|B|80", "database": "", "url": "" } ] }, { "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": 104, "start_aa": "Asn", "end_pos": 104, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn104", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2325", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2325" } ] }, { "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": 104, "start_aa": "Asn", "end_pos": 104, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn104", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2325", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2325" } ] }, { "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": 104, "start_aa": "Asn", "end_pos": 104, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn104", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2325", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2325" } ] }, { "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": 104, "start_aa": "Asn", "end_pos": 104, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn104", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2325", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2325" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_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": "P63137", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P63137#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P63137-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Asn173", "weight": 0.0, "glycosylation": [ { "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=8FOI&bu=0&command=select+.E:149;+center+selection;+zoom+selection" }, "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "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|E|149", "database": "", "url": "" }, { "id": "8FOI|B|149", "database": "", "url": "" }, { "id": "8G4N|E|149", "database": "", "url": "" }, { "id": "8G4N|B|149", "database": "", "url": "" }, { "id": "8G4O|E|149", "database": "", "url": "" }, { "id": "8G4O|B|149", "database": "", "url": "" }, { "id": "8G4X|E|149", "database": "", "url": "" }, { "id": "8G4X|B|149", "database": "", "url": "" }, { "id": "8G5G|B|149", "database": "", "url": "" }, { "id": "8G5G|E|149", "database": "", "url": "" }, { "id": "8G5H|E|149", "database": "", "url": "" }, { "id": "8G5H|B|149", "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": {}, "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "P63137", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P63137#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P63137-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Asn32", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "P63137", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P63137#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P63137-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Tyr441", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P63137", "url": "https://www.uniprot.org/uniprotkb/P63137" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "P63137", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63137" } ] } ] }, { "uniprot_canonical_ac": "P63137-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Gly243", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIG->NIS).", "chr_id": "11", "chr_pos": "42484671", "evidence": [ { "id": "rs3389162688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389162688" } ] } ] } ], "record_id": "P63137-1" }, { "uniprot_canonical_ac": "Q61169-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 589, "chemical_mass": 59307.0, "gene_names": "Gata6;GATA-6;Gata6", "protein_name": "Transcription factor GATA-6", "disease": [ { "disease_id": "DOID:0050651", "name": "atrioventricular septal defect", "description": "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.", "url": "https://disease-ontology.org/term/DOID:0050651", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ], "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:0110114", "name": "atrial heart septal defect 9", "description": "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11.", "url": "https://disease-ontology.org/term/DOID:0110114", "evidence": [ { "id": "0110114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110114" } ], "weight": 0.0 }, { "disease_id": "DOID:0111733", "name": "pancreatic hypoplasia-diabetes-congenital heart disease syndrome", "description": "A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2.", "url": "https://disease-ontology.org/term/DOID:0111733", "evidence": [ { "id": "0111733", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111733" } ], "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 }, { "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: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: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: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: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 } ], "biological_process": [ { "name": "regulation of antimicrobial humoral response", "id": "GO:0002759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002759", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "skin epidermis development", "id": "GO:0098773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098773", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "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": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "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": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "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": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "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": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "pancreas development", "id": "GO:0031016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031016", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "cardiac muscle tissue development", "id": "GO:0048738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048738", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "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": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "cellular response to BMP stimulus", "id": "GO:0071773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071773", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy in response to stress", "id": "GO:0014898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014898", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "response to growth factor", "id": "GO:0070848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070848", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "smooth muscle cell differentiation", "id": "GO:0051145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051145", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "animal organ formation", "id": "GO:0048645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048645", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "type II pneumocyte differentiation", "id": "GO:0060510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060510", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "phospholipid metabolic process", "id": "GO:0006644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006644", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "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": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle myoblast proliferation", "id": "GO:0110024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110024", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta2 production", "id": "GO:0032912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032912", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "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": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "lung saccule development", "id": "GO:0060430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060430", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell proliferation", "id": "GO:0060045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "G1 to G0 transition involved in cell differentiation", "id": "GO:0070315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070315", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "intestinal epithelial cell differentiation", "id": "GO:0060575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060575", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "endodermal cell differentiation", "id": "GO:0035987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035987", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "type B pancreatic cell differentiation", "id": "GO:0003309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003309", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "pancreatic A cell differentiation", "id": "GO:0003310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003310", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "endodermal cell fate determination", "id": "GO:0007493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007493", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "tube morphogenesis", "id": "GO:0035239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035239", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "club cell differentiation", "id": "GO:0060486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060486", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "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": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "cellular response to gonadotropin stimulus", "id": "GO:0071371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071371", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "sebaceous gland cell differentiation", "id": "GO:0001949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001949", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "sinoatrial node development", "id": "GO:0003163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003163", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "negative regulation of miRNA transcription", "id": "GO:1902894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902894", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "negative regulation of sebum secreting cell proliferation", "id": "GO:1904003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904003", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" } ], "molecular_function": [ { "name": "NFAT protein binding", "id": "GO:0051525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051525", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "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": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "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": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "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": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "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": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "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": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61169-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Ser266", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61169", "url": "https://www.uniprot.org/uniprotkb/Q61169" } ] } ] }, { "uniprot_canonical_ac": "Q61169-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Ser290", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q61169", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61169" }, { "database": "PubMed", "id": "25969542", "url": "https://glygen.org/publication/PubMed/25969542" } ] } ] }, { "uniprot_canonical_ac": "Q61169-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Ser107", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "18", "chr_pos": "11054391", "evidence": [ { "id": "rs219142105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219142105" } ] } ] }, { "uniprot_canonical_ac": "Q61169-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Ala244", "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": "18", "chr_pos": "11054802", "evidence": [ { "id": "rs239547741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239547741" } ] } ] }, { "uniprot_canonical_ac": "Q61169-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Gly296", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "18", "chr_pos": "11054958", "evidence": [ { "id": "rs3408130307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408130307" } ] } ] }, { "uniprot_canonical_ac": "Q61169-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Ser297", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "18", "chr_pos": "11054961", "evidence": [ { "id": "rs3408137470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408137470" } ] } ] }, { "uniprot_canonical_ac": "Q61169-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Gly346", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "18", "chr_pos": "11055108", "evidence": [ { "id": "rs1133037282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133037282" } ] } ] }, { "uniprot_canonical_ac": "Q61169-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Ile422", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "18", "chr_pos": "11059198", "evidence": [ { "id": "rs3389445679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389445679" } ] } ] }, { "uniprot_canonical_ac": "Q61169-1", "start_pos": "442", "end_pos": "442", "site_lbl": "His442", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "18", "chr_pos": "11063057", "evidence": [ { "id": "rs3389480884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389480884" } ] } ] }, { "uniprot_canonical_ac": "Q61169-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Asn501", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "18", "chr_pos": "11064691", "evidence": [ { "id": "rs3389479484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389479484" } ] } ] }, { "uniprot_canonical_ac": "Q61169-1", "start_pos": "528", "end_pos": "528", "site_lbl": "Thr528", "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": "18", "chr_pos": "11064772", "evidence": [ { "id": "rs1134697588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134697588" } ] } ] }, { "uniprot_canonical_ac": "Q61169-1", "start_pos": "532", "end_pos": "532", "site_lbl": "Thr532", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "18", "chr_pos": "11064783", "evidence": [ { "id": "rs229324756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229324756" } ] } ] }, { "uniprot_canonical_ac": "Q61169-1", "start_pos": "542", "end_pos": "542", "site_lbl": "Ala542", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "18", "chr_pos": "11084336", "evidence": [ { "id": "rs257950941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257950941" } ] } ] }, { "uniprot_canonical_ac": "Q61169-1", "start_pos": "549", "end_pos": "549", "site_lbl": "Pro549", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "18", "chr_pos": "11084358", "evidence": [ { "id": "rs3389466382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389466382" } ] } ] }, { "uniprot_canonical_ac": "Q61169-1", "start_pos": "554", "end_pos": "554", "site_lbl": "Leu554", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "18", "chr_pos": "11084372", "evidence": [ { "id": "rs3389483333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389483333" } ] } ] }, { "uniprot_canonical_ac": "Q61169-1", "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, stem cell markers.", "chr_id": "18", "chr_pos": "11084451", "evidence": [ { "id": "rs3389487222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389487222" } ] } ] }, { "uniprot_canonical_ac": "Q61169-1", "start_pos": "583", "end_pos": "583", "site_lbl": "Trp583", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "18", "chr_pos": "11084461", "evidence": [ { "id": "rs3389445662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389445662" } ] } ] } ], "record_id": "Q61169-1" }, { "uniprot_canonical_ac": "Q9QY14-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 288, "chemical_mass": 30541.0, "gene_names": "Foxe3;FREAC8;Foxe3;dyl;rct", "protein_name": "Forkhead box protein E3", "disease": [ { "disease_id": "DOID:0060648", "name": "anterior segment dysgenesis", "description": "An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye.", "url": "https://disease-ontology.org/term/DOID:0060648", "evidence": [ { "id": "0060648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060648" } ], "weight": 0.0 }, { "disease_id": "DOID:0080607", "name": "anterior segment dysgenesis 2", "description": "An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33.", "url": "https://disease-ontology.org/term/DOID:0080607", "evidence": [ { "id": "0080607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080607" } ], "weight": 0.0 }, { "disease_id": "DOID:0110230", "name": "cataract 34 multiple types", "description": "A cataract that has_material_basis_in variation in the region 1p34.3-p32.2.", "url": "https://disease-ontology.org/term/DOID:0110230", "evidence": [ { "id": "0110230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110230" } ], "weight": 0.0 }, { "disease_id": "DOID:11367", "name": "congenital aphakia", "description": "", "url": "https://disease-ontology.org/term/DOID:11367", "evidence": [ { "id": "11367", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11367" } ], "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 } ], "biological_process": [ { "name": "trabecular meshwork development", "id": "GO:0002930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002930", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "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": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "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": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "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": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "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": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" }, { "name": "iris morphogenesis", "id": "GO:0061072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061072", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" }, { "name": "ciliary body morphogenesis", "id": "GO:0061073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061073", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" }, { "name": "cornea development in camera-type eye", "id": "GO:0061303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061303", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" }, { "name": "negative regulation of lens fiber cell differentiation", "id": "GO:1902747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902747", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" }, { "name": "positive regulation of lens epithelial cell proliferation", "id": "GO:2001111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001111", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "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": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "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": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9QY14", "url": "https://www.uniprot.org/uniprotkb/Q9QY14" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9QY14-1" }, { "uniprot_canonical_ac": "Q9Z1S8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 665, "chemical_mass": 73208.0, "gene_names": "Gab2", "protein_name": "GRB2-associated-binding protein 2", "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": "osteoclast differentiation", "id": "GO:0030316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030316", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "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": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "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": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "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": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "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": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol-3,4,5-trisphosphate binding", "id": "GO:0005547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005547", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4-bisphosphate binding", "id": "GO:0043325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043325", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "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": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Asn132", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G30248BL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NLSSASHGPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 132, "start_aa": "Asn", "end_pos": 132, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn132", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Ser135", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Ser142", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Ser143", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ser149", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Ser150", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Ser160", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Ser165", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Ser211", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" }, { "database": "PubMed", "id": "19172738", "url": "https://glygen.org/publication/PubMed/19172738" }, { "database": "iPTMnet", "id": "Q9Z1S8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Ser220", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Ser261", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q9Z1S8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Thr262", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q9Z1S8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Tyr263", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q9Z1S8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Thr275", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Ser278", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Ser282", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Thr284", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Tyr290", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q9Z1S8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Thr328", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Ser365", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Thr382", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Thr388", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" }, { "database": "PubMed", "id": "19172738", "url": "https://glygen.org/publication/PubMed/19172738" }, { "database": "iPTMnet", "id": "Q9Z1S8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Ser402", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Thr405", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1S8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "420", "end_pos": "420", "site_lbl": "Ser420", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Tyr441", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" }, { "database": "PubMed", "id": "15750601", "url": "https://glygen.org/publication/PubMed/15750601" }, { "database": "iPTMnet", "id": "Q9Z1S8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Ser469", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "532", "end_pos": "532", "site_lbl": "Ser532", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "603", "end_pos": "603", "site_lbl": "Tyr603", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "IntAct", "id": "Q9Z1S8", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9Z1S8*" }, { "database": "iPTMnet", "id": "Q9Z1S8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1S8" }, { "database": "PubMed", "id": "11572860", "url": "https://glygen.org/publication/PubMed/11572860" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Ser612", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "632", "end_pos": "632", "site_lbl": "Tyr632", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1S8-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Arg32", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Impairs EGF-induced phosphorylation at S-211 and T-388 and binding to phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,4-bisphosphate.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S8", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S8" }, { "database": "PubMed", "id": "16456001", "url": "https://glygen.org/publication/PubMed/16456001" }, { "database": "PubMed", "id": "19172738", "url": "https://glygen.org/publication/PubMed/19172738" } ] } ] } ], "record_id": "Q9Z1S8-1" }, { "uniprot_canonical_ac": "Q9Z1E4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 738, "chemical_mass": 83927.0, "gene_names": "Gys1;Gys1;Gys3;Gys;MGS", "protein_name": "Glycogen [starch] synthase, muscle", "disease": [ { "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: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 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" } ], "pmid": "" }, { "name": "catalytic complex", "id": "GO:1902494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902494", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" } ], "pmid": "" }, { "name": "inclusion body", "id": "GO:0016234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016234", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" } ], "pmid": "" } ], "biological_process": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" } ], "pmid": "" }, { "name": "glycogen metabolic process", "id": "GO:0005977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005977", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" } ], "pmid": "" }, { "name": "glycogen biosynthetic process", "id": "GO:0005978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005978", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" } ], "pmid": "" } ], "molecular_function": [ { "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": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" } ], "pmid": "" }, { "name": "D-glucose binding", "id": "GO:0005536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005536", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" } ], "pmid": "" }, { "name": "glycogen synthase activity, transferring glucose-1-phosphate", "id": "GO:0061547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061547", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Ser412", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1E4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1E4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "641", "end_pos": "641", "site_lbl": "Ser641", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Ser645", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1E4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1E4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Ser649", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1E4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1E4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "652", "end_pos": "652", "site_lbl": "Ser652", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "653", "end_pos": "653", "site_lbl": "Ser653", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1E4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1E4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "657", "end_pos": "657", "site_lbl": "Ser657", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1E4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1E4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Ser672", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1E4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1E4" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45104588", "evidence": [ { "id": "rs3388896662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388896662" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "698", "end_pos": "698", "site_lbl": "Ser698", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "709", "end_pos": "709", "site_lbl": "Ser709", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1E4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1E4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "711", "end_pos": "711", "site_lbl": "Ser711", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "722", "end_pos": "722", "site_lbl": "Thr722", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1E4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1E4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Thr724", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1E4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1E4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "728", "end_pos": "728", "site_lbl": "Ser728", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z1E4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1E4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "732", "end_pos": "732", "site_lbl": "Ser732", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Ser8", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z1E4" }, { "database": "iPTMnet", "id": "Q9Z1E4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z1E4" }, { "database": "PubMed", "id": "15561936", "url": "https://glygen.org/publication/PubMed/15561936" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Gly111", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45087557", "evidence": [ { "id": "rs3388867181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388867181" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Ala121", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45087586", "evidence": [ { "id": "rs3388896667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388896667" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Glu127", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45087606", "evidence": [ { "id": "rs3388867211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388867211" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Pro173", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45088928", "evidence": [ { "id": "rs31966686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31966686" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Leu188", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45088972", "evidence": [ { "id": "rs3388907196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388907196" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Asn223", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45089078", "evidence": [ { "id": "rs3388882189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388882189" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Ile264", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45092381", "evidence": [ { "id": "rs3388912765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388912765" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Glu292", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45091898", "evidence": [ { "id": "rs3397711532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397711532" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Asp321", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45092360", "evidence": [ { "id": "rs3388909394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388909394" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Tyr325", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45092373", "evidence": [ { "id": "rs3388909354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388909354" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Ile328", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45092381", "evidence": [ { "id": "rs3388912765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388912765" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Ala347", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45092437", "evidence": [ { "id": "rs3388910964", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388910964" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Arg354", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45092458", "evidence": [ { "id": "rs3388910979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388910979" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Val385", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45093042", "evidence": [ { "id": "rs3388907243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388907243" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "426", "end_pos": "426", "site_lbl": "Thr426", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45094250", "evidence": [ { "id": "rs3388909404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388909404" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45094250", "evidence": [ { "id": "rs3388909404", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388909404" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Asp450", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45097361", "evidence": [ { "id": "rs3388907274", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388907274" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Lys474", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45097434", "evidence": [ { "id": "rs3388909333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388909333" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Val475", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45097678", "evidence": [ { "id": "rs1133774799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133774799" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Glu480", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45097693", "evidence": [ { "id": "rs3388907438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388907438" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Leu489", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45101187", "evidence": [ { "id": "rs3388906213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906213" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Gly503", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45097762", "evidence": [ { "id": "rs3388890998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388890998" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Leu553", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45101187", "evidence": [ { "id": "rs3388906213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906213" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "574", "end_pos": "574", "site_lbl": "Phe574", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45101251", "evidence": [ { "id": "rs3388867126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388867126" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "611", "end_pos": "611", "site_lbl": "Met611", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45104267", "evidence": [ { "id": "rs3388896694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388896694" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "637", "end_pos": "637", "site_lbl": "Pro637", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45104484", "evidence": [ { "id": "rs3388900143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388900143" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "646", "end_pos": "646", "site_lbl": "Pro646", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45104510", "evidence": [ { "id": "rs3388896653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388896653" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "699", "end_pos": "699", "site_lbl": "Cys699", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45104669", "evidence": [ { "id": "rs257125169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257125169" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "710", "end_pos": "710", "site_lbl": "Asn710", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45104704", "evidence": [ { "id": "rs3388906145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906145" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "727", "end_pos": "727", "site_lbl": "Leu727", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45104754", "evidence": [ { "id": "rs3388867159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388867159" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Thr75", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45086061", "evidence": [ { "id": "rs3412562627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412562627" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Leu79", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45101187", "evidence": [ { "id": "rs3388906213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388906213" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1E4-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Glu81", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "45086079", "evidence": [ { "id": "rs3388888272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388888272" } ] } ] } ], "record_id": "Q9Z1E4-1" }, { "uniprot_canonical_ac": "P27661-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 143, "chemical_mass": 15143.0, "gene_names": "H2ax;H2A.X;H2a.x;H2afx;H2ax;Hist5-2ax;gammaH2ax", "protein_name": "Histone H2AX", "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: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: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: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: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 } ], "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": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "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": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "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": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" } ], "cellular_component": [ { "name": "condensed nuclear chromosome", "id": "GO:0000794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000794", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "male germ cell nucleus", "id": "GO:0001673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001673", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "replication fork", "id": "GO:0005657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005657", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "XY body", "id": "GO:0001741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001741", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "site of DNA damage", "id": "GO:0090734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090734", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" }, { "name": "chromatin-protein adaptor activity", "id": "GO:0140463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140463", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P27661-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Ser121", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P27661", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27661" } ] } ] }, { "uniprot_canonical_ac": "P27661-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Ser122", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P27661", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27661" } ] } ] }, { "uniprot_canonical_ac": "P27661-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Ser137", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P27661", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27661" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Increased genomic instability and radiosensitivity; when associated with A-140.", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" }, { "database": "PubMed", "id": "12914701", "url": "https://glygen.org/publication/PubMed/12914701" } ] } ] }, { "uniprot_canonical_ac": "P27661-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Ser140", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" }, { "database": "iPTMnet", "id": "P27661", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27661" }, { "database": "PubMed", "id": "11571274", "url": "https://glygen.org/publication/PubMed/11571274" }, { "database": "PubMed", "id": "11740565", "url": "https://glygen.org/publication/PubMed/11740565" }, { "database": "PubMed", "id": "12447390", "url": "https://glygen.org/publication/PubMed/12447390" }, { "database": "PubMed", "id": "12660252", "url": "https://glygen.org/publication/PubMed/12660252" }, { "database": "PubMed", "id": "14530383", "url": "https://glygen.org/publication/PubMed/14530383" }, { "database": "PubMed", "id": "15059890", "url": "https://glygen.org/publication/PubMed/15059890" }, { "database": "PubMed", "id": "15580272", "url": "https://glygen.org/publication/PubMed/15580272" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "9488723", "url": "https://glygen.org/publication/PubMed/9488723" }, { "database": "PubMed", "id": "11242108", "url": "https://glygen.org/publication/PubMed/11242108" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Increased genomic instability and radiosensitivity; when associated with A-137. Reduced homologous recombination. No effect on Lys-40 acetylation. Further increase in radiosensitivity; when associated with R-37.", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" }, { "database": "PubMed", "id": "15610743", "url": "https://glygen.org/publication/PubMed/15610743" }, { "database": "PubMed", "id": "20488183", "url": "https://glygen.org/publication/PubMed/20488183" }, { "database": "PubMed", "id": "12914701", "url": "https://glygen.org/publication/PubMed/12914701" } ] } ] }, { "uniprot_canonical_ac": "P27661-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Tyr143", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" }, { "database": "iPTMnet", "id": "P27661", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27661" }, { "database": "PubMed", "id": "19092802", "url": "https://glygen.org/publication/PubMed/19092802" } ] } ] }, { "uniprot_canonical_ac": "P27661-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" }, { "database": "PubMed", "id": "7217105", "url": "https://glygen.org/publication/PubMed/7217105" }, { "database": "iPTMnet", "id": "P27661", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27661" } ] } ] }, { "uniprot_canonical_ac": "P27661-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Lys10", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on radiosensitivity; when associated with A-6, A-14 and A-16.", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" }, { "database": "PubMed", "id": "20488183", "url": "https://glygen.org/publication/PubMed/20488183" } ] } ] }, { "uniprot_canonical_ac": "P27661-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Lys14", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on radiosensitivity; when associated with A-6, A-10 and A-16.", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" }, { "database": "PubMed", "id": "20488183", "url": "https://glygen.org/publication/PubMed/20488183" } ] } ] }, { "uniprot_canonical_ac": "P27661-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Lys16", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on radiosensitivity; when associated with A-6, A-10 and A-14.", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" }, { "database": "PubMed", "id": "20488183", "url": "https://glygen.org/publication/PubMed/20488183" } ] } ] }, { "uniprot_canonical_ac": "P27661-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Lys37", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Increased radiosensitivity. No effect on phosphorylation after DNA damage. No effect on Ser-140 phosphorylation, nor on TP53BP1 recruitment to DNA double-strand breaks.", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" }, { "database": "PubMed", "id": "20488183", "url": "https://glygen.org/publication/PubMed/20488183" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on phosphorylation after DNA damage, but increased radiosensitivity. Further increase in radiosensitivity; when associated with A-140.", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" }, { "database": "PubMed", "id": "20488183", "url": "https://glygen.org/publication/PubMed/20488183" } ] } ] }, { "uniprot_canonical_ac": "P27661-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Lys6", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on radiosensitivity; when associated with A-10, A-14 and A-16.", "evidence": [ { "database": "UniProtKB", "id": "P27661", "url": "https://www.uniprot.org/uniprotkb/P27661" }, { "database": "PubMed", "id": "20488183", "url": "https://glygen.org/publication/PubMed/20488183" } ] } ] } ], "record_id": "P27661-1" }, { "uniprot_canonical_ac": "S4R1E0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 115, "chemical_mass": 13384.0, "gene_names": "H2ab1;Gm14920;Gm1539;H2A.B.3;H2A.Bbd1;H2A.Lap1;H2ab1;H2afb1", "protein_name": "Histone H2A", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" }, { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "S4R1E0", "url": "https://www.uniprot.org/uniprotkb/S4R1E0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "S4R1E0-1" }, { "uniprot_canonical_ac": "Q2NL51-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 490, "chemical_mass": 51661.0, "gene_names": "Gsk3a;2700086H06Rik;Gsk3a", "protein_name": "Glycogen synthase kinase-3 alpha", "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: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: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": "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": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "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": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "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": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "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": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "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": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "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": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "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": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "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": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "glycogen metabolic process", "id": "GO:0005977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005977", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "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": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "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": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "negative regulation of TOR signaling", "id": "GO:0032007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032007", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "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": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "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": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "regulation of systemic arterial blood pressure", "id": "GO:0003073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003073", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "regulation of neuron projection development", "id": "GO:0010975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010975", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "negative regulation of dendrite development", "id": "GO:2000171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000171", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "cellular response to glucocorticoid stimulus", "id": "GO:0071385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071385", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of adenylate cyclase-activating adrenergic receptor signaling pathway", "id": "GO:0071879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071879", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "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": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "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": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "positive regulation of heart contraction", "id": "GO:0045823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045823", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "cellular response to lithium ion", "id": "GO:0071285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071285", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "cardiac left ventricle morphogenesis", "id": "GO:0003214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003214", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "cellular response to interleukin-3", "id": "GO:0036016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036016", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "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": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "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": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "regulation of mitophagy", "id": "GO:1901524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901524", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "autosome genomic imprinting", "id": "GO:0141068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141068", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle hypertrophy", "id": "GO:0010614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010614", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "regulation of striated muscle cell differentiation", "id": "GO:0051153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051153", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "negative regulation of developmental process", "id": "GO:0051093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051093", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase A catalytic subunit binding", "id": "GO:0034236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034236", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "tau-protein kinase activity", "id": "GO:0050321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050321", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "protein serine/threonine kinase binding", "id": "GO:0120283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120283", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q2NL51-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Thr101", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 101, "start_aa": "Thr", "end_pos": 101, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr101", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q2NL51", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2NL51" } ] } ] }, { "uniprot_canonical_ac": "Q2NL51-1", "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": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q2NL51", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2NL51" } ] } ] }, { "uniprot_canonical_ac": "Q2NL51-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Thr472", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 472, "start_aa": "Thr", "end_pos": 472, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr472", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q2NL51", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q2NL51" } ] } ] }, { "uniprot_canonical_ac": "Q2NL51-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ser21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" }, { "database": "iPTMnet", "id": "Q2NL51", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q2NL51" }, { "database": "PubMed", "id": "11803463", "url": "https://glygen.org/publication/PubMed/11803463" }, { "database": "PubMed", "id": "17517892", "url": "https://glygen.org/publication/PubMed/17517892" }, { "database": "PubMed", "id": "18824542", "url": "https://glygen.org/publication/PubMed/18824542" }, { "database": "PubMed", "id": "19106302", "url": "https://glygen.org/publication/PubMed/19106302" }, { "database": "PubMed", "id": "24675832", "url": "https://glygen.org/publication/PubMed/24675832" }, { "database": "PubMed", "id": "15791206", "url": "https://glygen.org/publication/PubMed/15791206" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation; No inhibition of activity and constitutively active.", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" }, { "database": "PubMed", "id": "15791206", "url": "https://glygen.org/publication/PubMed/15791206" } ] } ] }, { "uniprot_canonical_ac": "Q2NL51-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Tyr279", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ] } ] }, { "uniprot_canonical_ac": "Q2NL51-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ] } ] }, { "uniprot_canonical_ac": "Q2NL51-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Ser72", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ] } ] }, { "uniprot_canonical_ac": "Q2NL51-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ser77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ] } ] }, { "uniprot_canonical_ac": "Q2NL51-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Ser97", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q2NL51", "url": "https://www.uniprot.org/uniprotkb/Q2NL51" } ] } ] }, { "uniprot_canonical_ac": "Q2NL51-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Lys50", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KAS->NAS).", "chr_id": "7", "chr_pos": "24936936", "evidence": [ { "id": "rs248656912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248656912" } ] } ] } ], "record_id": "Q2NL51-1" }, { "uniprot_canonical_ac": "Q5FWH3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 603, "chemical_mass": 67816.0, "gene_names": "Grhl3;Get1;Grhl3;Som;Tfcp2l4;ct", "protein_name": "Grainyhead-like protein 3 homolog", "disease": [ { "disease_id": "DOID:0060239", "name": "Van der Woude syndrome", "description": "A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.", "url": "https://disease-ontology.org/term/DOID:0060239", "evidence": [ { "id": "0060239", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060239" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "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": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "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": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "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": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "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": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "ectoderm development", "id": "GO:0007398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007398", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "establishment of planar polarity", "id": "GO:0001736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001736", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "cochlea morphogenesis", "id": "GO:0090103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090103", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "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": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "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": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "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": "Q5FWH3", "url": "https://www.uniprot.org/uniprotkb/Q5FWH3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5FWH3-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Thr141", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 141, "start_aa": "Thr", "end_pos": 141, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr141", "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": "135284669", "evidence": [ { "id": "rs259420198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259420198" } ] } ] }, { "uniprot_canonical_ac": "Q5FWH3-1", "start_pos": "578", "end_pos": "578", "site_lbl": "His578", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HYS->NYS).", "chr_id": "4", "chr_pos": "135270050", "evidence": [ { "id": "rs3388721686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388721686" } ] } ] } ], "record_id": "Q5FWH3-1" }, { "uniprot_canonical_ac": "Q0GNC1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1273, "chemical_mass": 138560.0, "gene_names": "Inf2;2610204M08Rik;EG629699;Inf2", "protein_name": "Inverted formin-2", "disease": [ { "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: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 }, { "disease_id": "DOID:0111130", "name": "focal segmental glomerulosclerosis 5", "description": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33.", "url": "https://disease-ontology.org/term/DOID:0111130", "evidence": [ { "id": "0111130", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111130" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of cellular component size", "id": "GO:0032535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032535", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" } ], "pmid": "" }, { "name": "regulation of mitochondrial fission", "id": "GO:0090140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090140", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" } ], "pmid": "" }, { "name": "actin nucleation", "id": "GO:0045010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045010", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" } ], "pmid": "" } ], "cellular_component": [ { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q0GNC1-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Thr100", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 100, "start_aa": "Thr", "end_pos": 100, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr100", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q0GNC1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q0GNC1" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "Q0GNC1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q0GNC1" } ] } ] }, { "uniprot_canonical_ac": "Q0GNC1-1", "start_pos": "1038", "end_pos": "1038", "site_lbl": "Thr1038", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1038, "start_aa": "Thr", "end_pos": 1038, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1038", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q0GNC1-1", "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": "Q0GNC1-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Thr437", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 437, "start_aa": "Thr", "end_pos": 437, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr437", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q0GNC1-1", "start_pos": "1172", "end_pos": "1172", "site_lbl": "Ser1172", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q0GNC1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0GNC1" } ] } ] }, { "uniprot_canonical_ac": "Q0GNC1-1", "start_pos": "1174", "end_pos": "1174", "site_lbl": "Ser1174", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q0GNC1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0GNC1" } ] } ] }, { "uniprot_canonical_ac": "Q0GNC1-1", "start_pos": "1203", "end_pos": "1203", "site_lbl": "Thr1203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q0GNC1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0GNC1" } ] } ] }, { "uniprot_canonical_ac": "Q0GNC1-1", "start_pos": "1216", "end_pos": "1216", "site_lbl": "Ser1216", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" } ] } ] }, { "uniprot_canonical_ac": "Q0GNC1-1", "start_pos": "1218", "end_pos": "1218", "site_lbl": "Ser1218", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" } ] } ] }, { "uniprot_canonical_ac": "Q0GNC1-1", "start_pos": "1223", "end_pos": "1223", "site_lbl": "Thr1223", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q0GNC1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0GNC1" } ] } ] }, { "uniprot_canonical_ac": "Q0GNC1-1", "start_pos": "1230", "end_pos": "1230", "site_lbl": "Thr1230", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q0GNC1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q0GNC1" } ] } ] }, { "uniprot_canonical_ac": "Q0GNC1-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Ser351", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" } ] } ] }, { "uniprot_canonical_ac": "Q0GNC1-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Thr375", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TTT->NTT).", "chr_id": "12", "chr_pos": "112570586", "evidence": [ { "id": "rs3389261821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389261821" } ] } ] }, { "uniprot_canonical_ac": "Q0GNC1-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Ala612", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "12", "chr_pos": "112578170", "evidence": [ { "id": "rs33442409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33442409" } ] } ] }, { "uniprot_canonical_ac": "Q0GNC1-1", "start_pos": "1009", "end_pos": "1009", "site_lbl": "Leu1009", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Strongly inhibits depolymerization; when associated with A-1010 and A-1019.", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" }, { "database": "PubMed", "id": "16818491", "url": "https://glygen.org/publication/PubMed/16818491" } ] } ] }, { "uniprot_canonical_ac": "Q0GNC1-1", "start_pos": "1010", "end_pos": "1010", "site_lbl": "Leu1010", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Strongly inhibits depolymerization; when associated with A-1009 and A-1019.", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" }, { "database": "PubMed", "id": "16818491", "url": "https://glygen.org/publication/PubMed/16818491" } ] } ] }, { "uniprot_canonical_ac": "Q0GNC1-1", "start_pos": "1019", "end_pos": "1019", "site_lbl": "Leu1019", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Strongly inhibits depolymerization; when associated with A-1009 and A-1010.", "evidence": [ { "database": "UniProtKB", "id": "Q0GNC1", "url": "https://www.uniprot.org/uniprotkb/Q0GNC1" }, { "database": "PubMed", "id": "16818491", "url": "https://glygen.org/publication/PubMed/16818491" } ] } ] } ], "record_id": "Q0GNC1-1" }, { "uniprot_canonical_ac": "Q8C208-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 586, "chemical_mass": 64155.0, "gene_names": "Ikzf4;A630026H08Rik;Eos;Ikzf4;Zfpn1a4;Znfn1a4", "protein_name": "Zinc finger protein Eos", "disease": [ { "disease_id": "DOID:640", "name": "encephalomyelitis", "description": "", "url": "https://disease-ontology.org/term/DOID:640", "evidence": [ { "id": "640", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:640" } ], "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": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "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": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "pmid": "" }, { "name": "bHLH transcription factor binding", "id": "GO:0043425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043425", "evidence": [ { "database": "UniProtKB", "id": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "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": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "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": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "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": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C208-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Thr243", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 243, "start_aa": "Thr", "end_pos": 243, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr243", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8C208-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Ser105", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C208", "url": "https://www.uniprot.org/uniprotkb/Q8C208" } ] } ] } ], "record_id": "Q8C208-1" }, { "uniprot_canonical_ac": "Q9ESJ7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ESJ7", "url": "https://www.uniprot.org/uniprotkb/Q9ESJ7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 259, "chemical_mass": 28861.0, "gene_names": "Irak1bp1;4921528N06Rik;Aabp3;Aip70;Irak1bp1;Simpl", "protein_name": "Interleukin-1 receptor-associated kinase 1-binding protein 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9ESJ7", "url": "https://www.uniprot.org/uniprotkb/Q9ESJ7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9ESJ7", "url": "https://www.uniprot.org/uniprotkb/Q9ESJ7" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9ESJ7", "url": "https://www.uniprot.org/uniprotkb/Q9ESJ7" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9ESJ7", "url": "https://www.uniprot.org/uniprotkb/Q9ESJ7" } ], "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": "Q9ESJ7", "url": "https://www.uniprot.org/uniprotkb/Q9ESJ7" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "Q9ESJ7", "url": "https://www.uniprot.org/uniprotkb/Q9ESJ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9ESJ7-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Ser234", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESJ7", "url": "https://www.uniprot.org/uniprotkb/Q9ESJ7" }, { "database": "PubMed", "id": "17079333", "url": "https://glygen.org/publication/PubMed/17079333" }, { "database": "iPTMnet", "id": "Q9ESJ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ESJ7" } ] } ] }, { "uniprot_canonical_ac": "Q9ESJ7-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Thr236", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESJ7", "url": "https://www.uniprot.org/uniprotkb/Q9ESJ7" }, { "database": "PubMed", "id": "17079333", "url": "https://glygen.org/publication/PubMed/17079333" }, { "database": "iPTMnet", "id": "Q9ESJ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ESJ7" } ] } ] }, { "uniprot_canonical_ac": "Q9ESJ7-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Ser241", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESJ7", "url": "https://www.uniprot.org/uniprotkb/Q9ESJ7" }, { "database": "PubMed", "id": "17079333", "url": "https://glygen.org/publication/PubMed/17079333" }, { "database": "iPTMnet", "id": "Q9ESJ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ESJ7" } ] } ] }, { "uniprot_canonical_ac": "Q9ESJ7-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Thr246", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESJ7", "url": "https://www.uniprot.org/uniprotkb/Q9ESJ7" }, { "database": "PubMed", "id": "17079333", "url": "https://glygen.org/publication/PubMed/17079333" }, { "database": "iPTMnet", "id": "Q9ESJ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ESJ7" } ] } ] }, { "uniprot_canonical_ac": "Q9ESJ7-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Ser55", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESJ7", "url": "https://www.uniprot.org/uniprotkb/Q9ESJ7" }, { "database": "PubMed", "id": "17079333", "url": "https://glygen.org/publication/PubMed/17079333" }, { "database": "iPTMnet", "id": "Q9ESJ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ESJ7" } ] } ] }, { "uniprot_canonical_ac": "Q9ESJ7-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Ser61", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESJ7", "url": "https://www.uniprot.org/uniprotkb/Q9ESJ7" }, { "database": "PubMed", "id": "17079333", "url": "https://glygen.org/publication/PubMed/17079333" }, { "database": "iPTMnet", "id": "Q9ESJ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ESJ7" } ] } ] }, { "uniprot_canonical_ac": "Q9ESJ7-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Ser63", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESJ7", "url": "https://www.uniprot.org/uniprotkb/Q9ESJ7" }, { "database": "PubMed", "id": "17079333", "url": "https://glygen.org/publication/PubMed/17079333" }, { "database": "iPTMnet", "id": "Q9ESJ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ESJ7" } ] } ] } ], "record_id": "Q9ESJ7-1" }, { "uniprot_canonical_ac": "O54890-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 787, "chemical_mass": 86738.0, "gene_names": "Itgb3;CD61;GP3A;INGRB3;Itgb3", "protein_name": "Integrin beta-3", "disease": [ { "disease_id": "DOID:0050864", "name": "non-arteritic anterior ischemic optic neuropathy", "description": "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease.", "url": "https://disease-ontology.org/term/DOID:0050864", "evidence": [ { "id": "0050864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050864" } ], "weight": 0.0 }, { "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: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:0060691", "name": "platelet-type bleeding disorder 16", "description": "A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.", "url": "https://disease-ontology.org/term/DOID:0060691", "evidence": [ { "id": "0060691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060691" } ], "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: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: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: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: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: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:2219", "name": "Glanzmann's thrombasthenia", "description": "A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.", "url": "https://disease-ontology.org/term/DOID:2219", "evidence": [ { "id": "2219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2219" } ], "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: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: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: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: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: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: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: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: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": "positive regulation of glomerular mesangial cell proliferation", "id": "GO:0072126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072126", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "cell-substrate junction assembly", "id": "GO:0007044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007044", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "negative regulation of lipid storage", "id": "GO:0010888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010888", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "smooth muscle cell migration", "id": "GO:0014909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014909", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "cell adhesion mediated by integrin", "id": "GO:0033627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033627", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "positive regulation of bone resorption", "id": "GO:0045780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045780", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "negative regulation of macrophage derived foam cell differentiation", "id": "GO:0010745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010745", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "platelet activation", "id": "GO:0030168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030168", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "positive regulation of osteoblast proliferation", "id": "GO:0033690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033690", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "substrate adhesion-dependent cell spreading", "id": "GO:0034446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034446", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "regulation of extracellular matrix organization", "id": "GO:1903053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903053", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "platelet aggregation", "id": "GO:0070527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070527", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "apoptotic cell clearance", "id": "GO:0043277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043277", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "negative chemotaxis", "id": "GO:0050919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050919", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "positive regulation of fibroblast migration", "id": "GO:0010763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010763", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "cell-substrate adhesion", "id": "GO:0031589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031589", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "positive regulation of osteoclast differentiation", "id": "GO:0045672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045672", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "positive regulation of adenylate cyclase-inhibiting opioid receptor signaling pathway", "id": "GO:1900731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900731", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "positive regulation of leukocyte migration", "id": "GO:0002687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002687", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "heterotypic cell-cell adhesion", "id": "GO:0034113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034113", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "blood coagulation, fibrin clot formation", "id": "GO:0072378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072378", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "mesodermal cell differentiation", "id": "GO:0048333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048333", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "negative regulation of lipid transport", "id": "GO:0032369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032369", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "negative regulation of lipoprotein metabolic process", "id": "GO:0050748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050748", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "cell projection morphogenesis", "id": "GO:0048858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048858", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "regulation of serotonin uptake", "id": "GO:0051611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051611", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "maintenance of postsynaptic specialization structure", "id": "GO:0098880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098880", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "regulation of postsynaptic neurotransmitter receptor diffusion trapping", "id": "GO:0150054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150054", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "alphav-beta3 integrin-IGF-1-IGF1R complex", "id": "GO:0035867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035867", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "alpha9-beta1 integrin-ADAM8 complex", "id": "GO:0071133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071133", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "lamellipodium membrane", "id": "GO:0031258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031258", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "filopodium membrane", "id": "GO:0031527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031527", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "integrin alpha9-beta1 complex", "id": "GO:0034679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034679", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "glycinergic synapse", "id": "GO:0098690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098690", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "microvillus membrane", "id": "GO:0031528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031528", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "integrin complex", "id": "GO:0008305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008305", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "integrin alphav-beta3 complex", "id": "GO:0034683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034683", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "integrin alphaIIb-beta3 complex", "id": "GO:0070442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070442", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "alphav-beta3 integrin-HMGB1 complex", "id": "GO:0035868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035868", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "alphav-beta3 integrin-PKCalpha complex", "id": "GO:0035866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035866", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" } ], "molecular_function": [ { "name": "neuregulin binding", "id": "GO:0038132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038132", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "extracellular matrix binding", "id": "GO:0050840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050840", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "fibronectin binding", "id": "GO:0001968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001968", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "fibroblast growth factor binding", "id": "GO:0017134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017134", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "protein disulfide isomerase activity", "id": "GO:0003756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003756", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "C-X3-C chemokine binding", "id": "GO:0019960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019960", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor 2 binding", "id": "GO:0043184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043184", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "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": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "fibrinogen binding", "id": "GO:0070051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070051", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" }, { "name": "cell adhesion receptor activity", "id": "GO:0004895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004895", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O54890-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Asn345", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 345, "start_aa": "Asn", "end_pos": 345, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn345", "evidence": [ { "id": "O54890", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O54890#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O54890-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Asn396", "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": "DLPEELSLSFNATCLNNEVIPGLK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "O54890", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O54890#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O54890-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Asn477", "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": "CNNGNGTFECGVCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 477, "start_aa": "Asn", "end_pos": 477, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn477", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 477, "start_aa": "Asn", "end_pos": 477, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn477", "evidence": [ { "id": "O54890", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O54890#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O54890-1", "start_pos": "584", "end_pos": "584", "site_lbl": "Asn584", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 584, "start_aa": "Asn", "end_pos": 584, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn584", "evidence": [ { "id": "O54890", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O54890#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O54890-1", "start_pos": "679", "end_pos": "679", "site_lbl": "Asn679", "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": 679, "start_aa": "Asn", "end_pos": 679, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn679", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2405", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2405" } ] }, { "glytoucan_ac": "G07755XJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NAVNCTYKNEDDCVVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 679, "start_aa": "Asn", "end_pos": 679, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn679", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 679, "start_aa": "Asn", "end_pos": 679, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn679", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2405", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2405" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 679, "start_aa": "Asn", "end_pos": 679, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn679", "evidence": [ { "id": "O54890", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O54890#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O54890-1", "start_pos": "766", "end_pos": "766", "site_lbl": "Thr766", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O54890", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54890" } ] } ] }, { "uniprot_canonical_ac": "O54890-1", "start_pos": "772", "end_pos": "772", "site_lbl": "Tyr772", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ] } ] }, { "uniprot_canonical_ac": "O54890-1", "start_pos": "778", "end_pos": "778", "site_lbl": "Thr778", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ] } ] }, { "uniprot_canonical_ac": "O54890-1", "start_pos": "784", "end_pos": "784", "site_lbl": "Tyr784", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54890", "url": "https://www.uniprot.org/uniprotkb/O54890" } ] } ] } ], "record_id": "O54890-1" }, { "uniprot_canonical_ac": "Q61730-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 570, "chemical_mass": 65741.0, "gene_names": "Il1rap;6430709H04Rik;IL-1RAcP;Il1rap", "protein_name": "Interleukin-1 receptor accessory protein", "disease": [], "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": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "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": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "interleukin-1-mediated signaling pathway", "id": "GO:0070498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070498", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "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": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "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": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "synaptic membrane adhesion", "id": "GO:0099560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099560", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "interleukin-33-mediated signaling pathway", "id": "GO:0038172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038172", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "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": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "regulation of presynapse assembly", "id": "GO:1905606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905606", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "regulation of postsynaptic density assembly", "id": "GO:0099151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099151", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "trans-synaptic signaling by trans-synaptic complex", "id": "GO:0099545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099545", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" } ], "molecular_function": [ { "name": "interleukin-33 receptor activity", "id": "GO:0002114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002114", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "interleukin-1 receptor activity", "id": "GO:0004908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004908", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "interleukin-1 receptor binding", "id": "GO:0005149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005149", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "protein tyrosine kinase binding", "id": "GO:1990782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990782", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "NAD+ nucleosidase activity, cyclic ADP-ribose generating", "id": "GO:0061809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061809", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "interleukin-1 receptor complex", "id": "GO:0045323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045323", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61730-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Asn107", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "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=4YFD&bu=0&command=select+.B:107;+center+selection;+zoom+selection" }, "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "Q61730", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61730#ptm_processing" }, { "id": "25908590", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25908590" }, { "id": "4YFD", "database": "PDB", "url": "https://www.rcsb.org/sequence/4YFD" }, { "id": "4YFD", "database": "PDB", "url": "https://www.rcsb.org/structure/4YFD" }, { "id": "4YFD", "database": "PDB", "url": "https://www.rcsb.org/structure/4YFD" }, { "id": "4YFD|B|107", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q61730-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Asn111", "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": "PTLLNDTGNYTCMLR", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=4YFD&bu=0&command=select+.B:111;+center+selection;+zoom+selection" }, "start_pos": 111, "start_aa": "Asn", "end_pos": 111, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn111", "evidence": [ { "id": "Q61730", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61730#ptm_processing" }, { "id": "25908590", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25908590" }, { "id": "4YFD", "database": "PDB", "url": "https://www.rcsb.org/sequence/4YFD" }, { "id": "4YFD", "database": "PDB", "url": "https://www.rcsb.org/structure/4YFD" }, { "id": "4YFD", "database": "PDB", "url": "https://www.rcsb.org/structure/4YFD" }, { "id": "4YFD|B|111", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q61730-1", "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=4YFD&bu=0&command=select+.B:118;+center+selection;+zoom+selection" }, "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "Q61730", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61730#ptm_processing" }, { "id": "25908590", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25908590" }, { "id": "4YFD", "database": "PDB", "url": "https://www.rcsb.org/sequence/4YFD" }, { "id": "4YFD", "database": "PDB", "url": "https://www.rcsb.org/structure/4YFD" }, { "id": "4YFD", "database": "PDB", "url": "https://www.rcsb.org/structure/4YFD" }, { "id": "4YFD|B|118", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q61730-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Asn196", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q61730", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61730#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61730-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Asn209", "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=4YFD&bu=0&command=select+.B:209;+center+selection;+zoom+selection" }, "start_pos": 209, "start_aa": "Asn", "end_pos": 209, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn209", "evidence": [ { "id": "Q61730", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61730#ptm_processing" }, { "id": "25908590", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25908590" }, { "id": "4YFD", "database": "PDB", "url": "https://www.rcsb.org/sequence/4YFD" }, { "id": "4YFD", "database": "PDB", "url": "https://www.rcsb.org/structure/4YFD" }, { "id": "4YFD", "database": "PDB", "url": "https://www.rcsb.org/structure/4YFD" }, { "id": "4YFD|B|209", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q61730-1", "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": "Q61730", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61730#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61730-1", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=4YFD&bu=0&command=select+.B:57;+center+selection;+zoom+selection" }, "start_pos": 57, "start_aa": "Asn", "end_pos": 57, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn57", "evidence": [ { "id": "Q61730", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61730#ptm_processing" }, { "id": "25908590", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25908590" }, { "id": "4YFD", "database": "PDB", "url": "https://www.rcsb.org/sequence/4YFD" }, { "id": "4YFD", "database": "PDB", "url": "https://www.rcsb.org/structure/4YFD" }, { "id": "4YFD", "database": "PDB", "url": "https://www.rcsb.org/structure/4YFD" }, { "id": "4YFD|B|57", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q61730-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Phe433", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEF->NES).", "chr_id": "16", "chr_pos": "26530963", "evidence": [ { "id": "rs3389413656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389413656" } ] } ] }, { "uniprot_canonical_ac": "Q61730-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Trp27", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Reduces affinity for PTPRD.", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" }, { "database": "PubMed", "id": "25908590", "url": "https://glygen.org/publication/PubMed/25908590" } ] } ] }, { "uniprot_canonical_ac": "Q61730-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Asp30", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Does not affect affinity for PTPRD.", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" }, { "database": "PubMed", "id": "25908590", "url": "https://glygen.org/publication/PubMed/25908590" } ] } ] }, { "uniprot_canonical_ac": "Q61730-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Lys94", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Reduces affinity for PTPRD.", "evidence": [ { "database": "UniProtKB", "id": "Q61730", "url": "https://www.uniprot.org/uniprotkb/Q61730" }, { "database": "PubMed", "id": "25908590", "url": "https://glygen.org/publication/PubMed/25908590" } ] } ] } ], "record_id": "Q61730-1" }, { "uniprot_canonical_ac": "Q8C0D7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 249, "chemical_mass": 28528.0, "gene_names": "Ing4;D6Wsu147e;D6Xrf92;Ing4;p29ING4", "protein_name": "Inhibitor of growth protein 4", "disease": [], "biological_process": [ { "name": "regulation of DNA biosynthetic process", "id": "GO:2000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000278", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "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": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "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": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "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": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "protein acetylation", "id": "GO:0006473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006473", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "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": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "negative regulation of growth", "id": "GO:0045926", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045926", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "DNA replication-dependent chromatin disassembly", "id": "GO:0140889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140889", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone H4K12 acetyltransferase activity", "id": "GO:0043997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043997", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "histone H4K5 acetyltransferase activity", "id": "GO:0043995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043995", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "histone H4K8 acetyltransferase activity", "id": "GO:0043996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043996", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "histone H3K14 acetyltransferase activity", "id": "GO:0036408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036408", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "histone H3K4me3 reader activity", "id": "GO:0140002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140002", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "intermediate filament cytoskeleton", "id": "GO:0045111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045111", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" }, { "name": "histone acetyltransferase complex", "id": "GO:0000123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000123", "evidence": [ { "database": "UniProtKB", "id": "Q8C0D7", "url": "https://www.uniprot.org/uniprotkb/Q8C0D7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8C0D7-1" }, { "uniprot_canonical_ac": "Q8C863-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 864, "chemical_mass": 98994.0, "gene_names": "Itch;6720481N21Rik;8030492O04Rik;A130065M08;AIP4;C230047C07Rik;Itch", "protein_name": "E3 ubiquitin-protein ligase Itchy", "disease": [ { "disease_id": "DOID:0050477", "name": "Liddle syndrome", "description": "A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel.", "url": "https://disease-ontology.org/term/DOID:0050477", "evidence": [ { "id": "0050477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050477" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of receptor catabolic process", "id": "GO:2000646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000646", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "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": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "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": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "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": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "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": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "positive regulation of T cell anergy", "id": "GO:0002669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002669", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein monoubiquitination", "id": "GO:0006513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006513", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein K29-linked ubiquitination", "id": "GO:0035519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035519", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "negative regulation of alpha-beta T cell proliferation", "id": "GO:0046642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046642", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "regulation of protein deubiquitination", "id": "GO:0090085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090085", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "negative regulation of cytoplasmic pattern recognition receptor signaling pathway", "id": "GO:0039532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039532", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "CXCL12-activated CXCR4 signaling pathway", "id": "GO:0038160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038160", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "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": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein branched polyubiquitination", "id": "GO:0141198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141198", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" } ], "molecular_function": [ { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "arrestin family protein binding", "id": "GO:1990763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990763", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "ubiquitin-ubiquitin ligase activity", "id": "GO:0034450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034450", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "ligase activity", "id": "GO:0016874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016874", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "ubiquitin-like protein ligase binding", "id": "GO:0044389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044389", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" }, { "name": "CXCR chemokine receptor binding", "id": "GO:0045236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045236", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Asn178", "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": "VSTNGSEDPEVAASGENKR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 178, "start_aa": "Asn", "end_pos": 178, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Thr222", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 222, "start_aa": "Thr", "end_pos": 222, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr222", "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": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "iPTMnet", "id": "Q8C863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C863" }, { "database": "PubMed", "id": "32513985", "url": "https://glygen.org/publication/PubMed/32513985" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No loss of MAPK8-mediated phosphorylation. Greatly reduced MAPK8-mediated phosphorylation; when associated with A-199 or A-232. Completely abolishes MAPK8-mediated phosphorylation; when associated with A-199 and A-232.", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] }, { "sequence_org": "T", "sequence_mut": "D", "comment": "Inhibits in vitro interaction between ITCHHECT domain and PRR/WW motifs. More sensitive to in vitro proteolysis.", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] } ] }, { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Ser199", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "iPTMnet", "id": "Q8C863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C863" }, { "database": "PubMed", "id": "32513985", "url": "https://glygen.org/publication/PubMed/32513985" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No loss of MAPK8-mediated phosphorylation and no effect on ligase activity. Almost complete inactivation of ligase activity; when associated with A-232. Greatly reduced MAPK8-mediated phosphorylation; when associated with A-222 or A-232. Completely abolishes MAPK8-mediated phosphorylation; when associated with A-222 and A-232.", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "More sensitive to in vitro proteolysis.", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] } ] }, { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Ser232", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "iPTMnet", "id": "Q8C863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C863" }, { "database": "PubMed", "id": "32513985", "url": "https://glygen.org/publication/PubMed/32513985" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No loss of MAPK8-mediated phosphorylation and no effect on ligase activity. Almost complete inactivation of ligase activity; when associated with A-199. Greatly reduced MAPK8-mediated phosphorylation; when associated with A-199 or A-222. Completely abolishes MAPK8-mediated phosphorylation; when associated with A-199 and A-222.", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "More sensitive to in vitro proteolysis.", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "PubMed", "id": "16446428", "url": "https://glygen.org/publication/PubMed/16446428" } ] } ] }, { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Thr346", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ] } ] }, { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Tyr381", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P39688-1", "kinase_gene_name": "Fyn", "evidence": [ { "database": "iPTMnet", "id": "Q8C863", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C863" }, { "database": "PubMed", "id": "16387660", "url": "https://glygen.org/publication/PubMed/16387660" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ] } ] }, { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Ser411", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" } ] } ] }, { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "528", "end_pos": "528", "site_lbl": "Ser528", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SFS->NFS).", "chr_id": "2", "chr_pos": "155048220", "evidence": [ { "id": "rs3388597020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388597020" } ] } ] }, { "uniprot_canonical_ac": "Q8C863-1", "start_pos": "832", "end_pos": "832", "site_lbl": "Cys832", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of ubiquitin protein ligase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8C863", "url": "https://www.uniprot.org/uniprotkb/Q8C863" }, { "database": "PubMed", "id": "10940313", "url": "https://glygen.org/publication/PubMed/10940313" } ] } ] } ], "record_id": "Q8C863-1" }, { "uniprot_canonical_ac": "Q9WUK2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WUK2", "url": "https://www.uniprot.org/uniprotkb/Q9WUK2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 248, "chemical_mass": 27341.0, "gene_names": "Eif4h;D5Ertd355e;E430026L18Rik;Ef4h;Eif4h;Wbscr1;Wscr1;eIF-4H", "protein_name": "Eukaryotic translation initiation factor 4H", "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 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9WUK2", "url": "https://www.uniprot.org/uniprotkb/Q9WUK2" } ], "pmid": "" }, { "name": "translation initiation factor activity", "id": "GO:0003743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003743", "evidence": [ { "database": "UniProtKB", "id": "Q9WUK2", "url": "https://www.uniprot.org/uniprotkb/Q9WUK2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WUK2", "url": "https://www.uniprot.org/uniprotkb/Q9WUK2" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9WUK2", "url": "https://www.uniprot.org/uniprotkb/Q9WUK2" } ], "pmid": "" } ], "biological_process": [ { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "Q9WUK2", "url": "https://www.uniprot.org/uniprotkb/Q9WUK2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WUK2-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Ser13", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUK2", "url": "https://www.uniprot.org/uniprotkb/Q9WUK2" } ] } ] }, { "uniprot_canonical_ac": "Q9WUK2-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Ser14", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUK2", "url": "https://www.uniprot.org/uniprotkb/Q9WUK2" } ] } ] }, { "uniprot_canonical_ac": "Q9WUK2-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ser21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUK2", "url": "https://www.uniprot.org/uniprotkb/Q9WUK2" } ] } ] }, { "uniprot_canonical_ac": "Q9WUK2-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Ser230", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUK2", "url": "https://www.uniprot.org/uniprotkb/Q9WUK2" } ] } ] }, { "uniprot_canonical_ac": "Q9WUK2-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUK2", "url": "https://www.uniprot.org/uniprotkb/Q9WUK2" } ] } ] }, { "uniprot_canonical_ac": "Q9WUK2-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Ser32", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUK2", "url": "https://www.uniprot.org/uniprotkb/Q9WUK2" } ] } ] } ], "record_id": "Q9WUK2-1" }, { "uniprot_canonical_ac": "P59823-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 695, "chemical_mass": 79630.0, "gene_names": "Il1rapl1", "protein_name": "Interleukin-1 receptor accessory protein-like 1", "disease": [ { "disease_id": "DOID:0112022", "name": "non-syndromic X-linked intellectual disability 21", "description": "A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2.", "url": "https://disease-ontology.org/term/DOID:0112022", "evidence": [ { "id": "0112022", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112022" } ], "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": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "NAD+ nucleosidase activity, cyclic ADP-ribose generating", "id": "GO:0061809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061809", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "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": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "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": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "positive regulation of dendrite morphogenesis", "id": "GO:0050775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050775", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "regulation of neuron projection development", "id": "GO:0010975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010975", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "negative regulation of exocytosis", "id": "GO:0045920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045920", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "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": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "synaptic membrane adhesion", "id": "GO:0099560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099560", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "presynaptic membrane assembly", "id": "GO:0097105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097105", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "regulation of presynapse assembly", "id": "GO:1905606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905606", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "trans-synaptic signaling by trans-synaptic complex", "id": "GO:0099545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099545", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "regulation of postsynapse organization", "id": "GO:0099175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099175", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P59823-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Asn122", "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": "NSTYCMK", "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": "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": 122, "start_aa": "Asn", "end_pos": 122, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn122", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2411", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2411" } ] }, { "glytoucan_ac": "", "type": "N-linked", "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=4YH7&bu=0&command=select+.B:122;+center+selection;+zoom+selection" }, "start_pos": 122, "start_aa": "Asn", "end_pos": 122, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn122", "evidence": [ { "id": "P59823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P59823#ptm_processing" }, { "id": "25908590", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25908590" }, { "id": "5Y32", "database": "PDB", "url": "https://www.rcsb.org/sequence/5Y32" }, { "id": "4YH7", "database": "PDB", "url": "https://www.rcsb.org/sequence/4YH7" }, { "id": "4YH6", "database": "PDB", "url": "https://www.rcsb.org/sequence/4YH6" }, { "id": "4YH7", "database": "PDB", "url": "https://www.rcsb.org/structure/4YH7" }, { "id": "4YH7", "database": "PDB", "url": "https://www.rcsb.org/structure/4YH7" }, { "id": "4YH7|B|122", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P59823-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Asn138", "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": "VSISLTVGENDTGLCYNSK", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=4YH6&bu=0&command=select+.A:138;+center+selection;+zoom+selection" }, "start_pos": 138, "start_aa": "Asn", "end_pos": 138, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "evidence": [ { "id": "P59823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P59823#ptm_processing" }, { "id": "25908590", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25908590" }, { "id": "5Y32", "database": "PDB", "url": "https://www.rcsb.org/sequence/5Y32" }, { "id": "4YH7", "database": "PDB", "url": "https://www.rcsb.org/sequence/4YH7" }, { "id": "4YH6", "database": "PDB", "url": "https://www.rcsb.org/sequence/4YH6" }, { "id": "4YH6", "database": "PDB", "url": "https://www.rcsb.org/structure/4YH6" }, { "id": "4YH6", "database": "PDB", "url": "https://www.rcsb.org/structure/4YH6" }, { "id": "4YH7", "database": "PDB", "url": "https://www.rcsb.org/structure/4YH7" }, { "id": "4YH7", "database": "PDB", "url": "https://www.rcsb.org/structure/4YH7" }, { "id": "5Y32", "database": "PDB", "url": "https://www.rcsb.org/structure/5Y32" }, { "id": "5Y32", "database": "PDB", "url": "https://www.rcsb.org/structure/5Y32" }, { "id": "4YH6|A|138", "database": "", "url": "" }, { "id": "4YH7|B|138", "database": "", "url": "" }, { "id": "5Y32|B|138", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P59823-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Asn213", "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": 213, "start_aa": "Asn", "end_pos": 213, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn213", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2411", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2411" } ] }, { "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": 213, "start_aa": "Asn", "end_pos": 213, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn213", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2411", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2411" } ] }, { "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=4YH6&bu=0&command=select+.B:213;+center+selection;+zoom+selection" }, "start_pos": 213, "start_aa": "Asn", "end_pos": 213, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn213", "evidence": [ { "id": "4YH6", "database": "PDB", "url": "https://www.rcsb.org/structure/4YH6" }, { "id": "4YH6", "database": "PDB", "url": "https://www.rcsb.org/structure/4YH6" }, { "id": "4YH6|B|213", "database": "", "url": "" }, { "id": "4YH6|A|213", "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": 213, "start_aa": "Asn", "end_pos": 213, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn213", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2411", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2411" } ] }, { "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": 213, "start_aa": "Asn", "end_pos": 213, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn213", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2411", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2411" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EVKEDDIGNYTCELK", "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": "P59823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P59823#ptm_processing" }, { "id": "25908590", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25908590" }, { "id": "5Y32", "database": "PDB", "url": "https://www.rcsb.org/sequence/5Y32" }, { "id": "4YH7", "database": "PDB", "url": "https://www.rcsb.org/sequence/4YH7" }, { "id": "4YH6", "database": "PDB", "url": "https://www.rcsb.org/sequence/4YH6" } ] } ] }, { "uniprot_canonical_ac": "P59823-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Asn264", "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": "LTVQETQLGGSANLTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 264, "start_aa": "Asn", "end_pos": 264, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn264", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "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=4YH6&bu=0&command=select+.A:264;+center+selection;+zoom+selection" }, "start_pos": 264, "start_aa": "Asn", "end_pos": 264, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn264", "evidence": [ { "id": "4YH6", "database": "PDB", "url": "https://www.rcsb.org/structure/4YH6" }, { "id": "4YH6", "database": "PDB", "url": "https://www.rcsb.org/structure/4YH6" }, { "id": "4YH7", "database": "PDB", "url": "https://www.rcsb.org/structure/4YH7" }, { "id": "4YH7", "database": "PDB", "url": "https://www.rcsb.org/structure/4YH7" }, { "id": "4YH6|A|264", "database": "", "url": "" }, { "id": "4YH7|B|264", "database": "", "url": "" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LLYPMESKLTVQETQLGGSANLTCR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 264, "start_aa": "Asn", "end_pos": 264, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn264", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "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=4YH6&bu=0&command=select+.B:264;+center+selection;+zoom+selection" }, "start_pos": 264, "start_aa": "Asn", "end_pos": 264, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn264", "evidence": [ { "id": "4YH6", "database": "PDB", "url": "https://www.rcsb.org/structure/4YH6" }, { "id": "4YH6", "database": "PDB", "url": "https://www.rcsb.org/structure/4YH6" }, { "id": "4YH6|B|264", "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": {}, "start_pos": 264, "start_aa": "Asn", "end_pos": 264, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn264", "evidence": [ { "id": "P59823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P59823#ptm_processing" }, { "id": "25908590", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25908590" }, { "id": "5Y32", "database": "PDB", "url": "https://www.rcsb.org/sequence/5Y32" }, { "id": "4YH7", "database": "PDB", "url": "https://www.rcsb.org/sequence/4YH7" }, { "id": "4YH6", "database": "PDB", "url": "https://www.rcsb.org/sequence/4YH6" } ] } ] }, { "uniprot_canonical_ac": "P59823-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Asn331", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 331, "start_aa": "Asn", "end_pos": 331, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn331", "evidence": [ { "id": "P59823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P59823#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P59823-1", "start_pos": "575", "end_pos": "575", "site_lbl": "Ser575", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 575, "start_aa": "Ser", "end_pos": 575, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser575", "evidence": [ { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "P59823", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P59823" }, { "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": "P59823-1", "start_pos": "587", "end_pos": "587", "site_lbl": "Ser587", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 587, "start_aa": "Ser", "end_pos": 587, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser587", "evidence": [ { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "P59823", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P59823" }, { "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": "P59823-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Asn63", "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=5Y32&bu=0&command=select+.B:63;+center+selection;+zoom+selection" }, "start_pos": 63, "start_aa": "Asn", "end_pos": 63, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn63", "evidence": [ { "id": "P59823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P59823#ptm_processing" }, { "id": "25908590", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25908590" }, { "id": "5Y32", "database": "PDB", "url": "https://www.rcsb.org/sequence/5Y32" }, { "id": "5Y32", "database": "PDB", "url": "https://www.rcsb.org/structure/5Y32" }, { "id": "5Y32", "database": "PDB", "url": "https://www.rcsb.org/structure/5Y32" }, { "id": "5Y32|B|63", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P59823-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Asp292", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Decreases affinity for PTPRD. Significantly decreases synaptogenesis.", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" }, { "database": "PubMed", "id": "25908590", "url": "https://glygen.org/publication/PubMed/25908590" } ] } ] }, { "uniprot_canonical_ac": "P59823-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Trp34", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Abolishes Interaction with PTPRD. Abolishes synaptogenesis.", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" }, { "database": "PubMed", "id": "25908590", "url": "https://glygen.org/publication/PubMed/25908590" } ] } ] }, { "uniprot_canonical_ac": "P59823-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Asp37", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Decreases affinity for PTPRD. Significantly decreases synaptogenesis.", "evidence": [ { "database": "UniProtKB", "id": "P59823", "url": "https://www.uniprot.org/uniprotkb/P59823" }, { "database": "PubMed", "id": "25908590", "url": "https://glygen.org/publication/PubMed/25908590" } ] } ] } ], "record_id": "P59823-1" }, { "uniprot_canonical_ac": "P33896-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 590, "chemical_mass": 65796.0, "gene_names": "Ifnar1;Ifar;Ifnar1;Ifnar;Ifrc;Infar", "protein_name": "Interferon alpha/beta receptor 1", "disease": [ { "disease_id": "DOID:0061075", "name": "immunodeficiency 106", "description": "A primary immunodeficiency disease that is characterized by increased susceptibility to viral infections beginning in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22.", "url": "https://disease-ontology.org/term/DOID:0061075", "evidence": [ { "id": "0061075", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061075" } ], "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 } ], "biological_process": [ { "name": "cellular response to interferon-alpha", "id": "GO:0035457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035457", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "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": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "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": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "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": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" }, { "name": "regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050730", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "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": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "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": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "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": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" }, { "name": "cellular response to interferon-beta", "id": "GO:0035458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035458", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" }, { "name": "positive regulation of cellular respiration", "id": "GO:1901857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901857", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "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": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "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": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" }, { "name": "positive regulation of metabolic process", "id": "GO:0009893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009893", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine binding", "id": "GO:0019955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019955", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" }, { "name": "interferon receptor activity", "id": "GO:0004904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004904", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" }, { "name": "JAK pathway signal transduction adaptor activity", "id": "GO:0008269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008269", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" }, { "name": "type I interferon receptor activity", "id": "GO:0004905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004905", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" }, { "name": "type I interferon binding", "id": "GO:0019962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019962", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P33896-1", "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": "P33896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P33896#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P33896-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Asn181", "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": "TINSTYYVEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 181, "start_aa": "Asn", "end_pos": 181, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn181", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 181, "start_aa": "Asn", "end_pos": 181, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn181", "evidence": [ { "id": "P33896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P33896#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P33896-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Asn214", "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": "HSNYSTVQCISTTVANK", "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": "P33896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P33896#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P33896-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Asn314", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "P33896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P33896#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P33896-1", "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": "P33896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P33896#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTS->DTS).", "chr_id": "16", "chr_pos": "91296860", "evidence": [ { "id": "rs218038967", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218038967" } ] } ] }, { "uniprot_canonical_ac": "P33896-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Asn409", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 409, "start_aa": "Asn", "end_pos": 409, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn409", "evidence": [ { "id": "P33896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P33896#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P33896-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Asn413", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 413, "start_aa": "Asn", "end_pos": 413, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn413", "evidence": [ { "id": "P33896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P33896#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P33896-1", "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": "P33896", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P33896#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P33896-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Ser526", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" }, { "database": "PubMed", "id": "14532120", "url": "https://glygen.org/publication/PubMed/14532120" }, { "database": "iPTMnet", "id": "P33896", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P33896" }, { "database": "PubMed", "id": "24480543", "url": "https://glygen.org/publication/PubMed/24480543" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes interaction with FBXW11. Prevents interalization from the cell membrane and lysosomal degradation.", "evidence": [ { "database": "UniProtKB", "id": "P33896", "url": "https://www.uniprot.org/uniprotkb/P33896" }, { "database": "PubMed", "id": "14532120", "url": "https://glygen.org/publication/PubMed/14532120" } ] } ] }, { "uniprot_canonical_ac": "P33896-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Lys172", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "16", "chr_pos": "91292176", "evidence": [ { "id": "rs242103706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242103706" } ] } ] } ], "record_id": "P33896-1" }, { "uniprot_canonical_ac": "Q9Z0R6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1659, "chemical_mass": 188908.0, "gene_names": "Itsn2;Ese2;Sh3d1B", "protein_name": "Intersectin-2", "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: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": "positive regulation of dendrite extension", "id": "GO:1903861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903861", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ], "pmid": "" }, { "name": "clathrin-dependent synaptic vesicle endocytosis", "id": "GO:0150007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150007", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ], "pmid": "" } ], "cellular_component": [ { "name": "intracellular vesicle", "id": "GO:0097708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097708", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ], "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": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z0R6-1", "start_pos": "1569", "end_pos": "1569", "site_lbl": "Thr1569", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1569, "start_aa": "Thr", "end_pos": 1569, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1569", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q9Z0R6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z0R6" }, { "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": "Q9Z0R6-1", "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": "Q9Z0R6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z0R6" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9Z0R6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Z0R6" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0R6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0R6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R6-1", "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": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q9Z0R6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z0R6" }, { "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": "Q9Z0R6-1", "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": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q9Z0R6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z0R6" }, { "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": "Q9Z0R6-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Ser110", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R6-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Ser231", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R6-1", "start_pos": "554", "end_pos": "554", "site_lbl": "Tyr554", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q9Z0R6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0R6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R6-1", "start_pos": "574", "end_pos": "574", "site_lbl": "Thr574", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R6-1", "start_pos": "836", "end_pos": "836", "site_lbl": "Thr836", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0R6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0R6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R6-1", "start_pos": "838", "end_pos": "838", "site_lbl": "Ser838", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" }, { "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": "Q9Z0R6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0R6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R6-1", "start_pos": "843", "end_pos": "843", "site_lbl": "Ser843", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" }, { "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": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9Z0R6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0R6" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0R6-1", "start_pos": "922", "end_pos": "922", "site_lbl": "Tyr922", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0R6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0R6" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "iPTMnet", "id": "Q9Z0R6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0R6" } ] } ] } ], "record_id": "Q9Z0R6-1" }, { "uniprot_canonical_ac": "Q62101-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 918, "chemical_mass": 102037.0, "gene_names": "Prkd1;PKD1;PKD;Pkcm;Pkd;Prkcm;Prkd1;nPKC-D1;nPKC-mu", "protein_name": "Serine/threonine-protein kinase D1", "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: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: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": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "cellular response to angiotensin", "id": "GO:1904385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904385", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "cellular response to endothelin", "id": "GO:1990859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990859", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell chemotaxis", "id": "GO:2001028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001028", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "cellular response to norepinephrine stimulus", "id": "GO:0071874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071874", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor signaling pathway", "id": "GO:0048010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048010", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "positive regulation of cell size", "id": "GO:0045793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045793", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "cellular response to hydroperoxide", "id": "GO:0071447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071447", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "Golgi vesicle transport", "id": "GO:0048193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048193", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "transepithelial transport", "id": "GO:0070633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070633", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "response to norepinephrine", "id": "GO:0071873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071873", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "regulation of keratinocyte proliferation", "id": "GO:0010837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010837", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "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": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "positive regulation of sarcomere organization", "id": "GO:0060298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060298", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "regulation of skeletal muscle contraction by modulation of calcium ion sensitivity of myofibril", "id": "GO:0014723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014723", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" } ], "cellular_component": [ { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "diacylglycerol-dependent serine/threonine kinase activity", "id": "GO:0004697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004697", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase activator activity", "id": "GO:0141038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141038", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q62101-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62101" } ] } ] }, { "uniprot_canonical_ac": "Q62101-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Ser206", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q62101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62101" } ] } ] }, { "uniprot_canonical_ac": "Q62101-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Ser217", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ] } ] }, { "uniprot_canonical_ac": "Q62101-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Ser221", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ] } ] }, { "uniprot_canonical_ac": "Q62101-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Ser351", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ] } ] }, { "uniprot_canonical_ac": "Q62101-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Ser403", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" }, { "database": "iPTMnet", "id": "Q62101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62101" }, { "database": "PubMed", "id": "19135240", "url": "https://glygen.org/publication/PubMed/19135240" } ] } ] }, { "uniprot_canonical_ac": "Q62101-1", "start_pos": "407", "end_pos": "407", "site_lbl": "Ser407", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ] } ] }, { "uniprot_canonical_ac": "Q62101-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Tyr438", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ] } ] }, { "uniprot_canonical_ac": "Q62101-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Ser454", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ] } ] }, { "uniprot_canonical_ac": "Q62101-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Tyr469", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" }, { "database": "iPTMnet", "id": "Q62101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62101" }, { "database": "PubMed", "id": "15084589", "url": "https://glygen.org/publication/PubMed/15084589" } ] } ] }, { "uniprot_canonical_ac": "Q62101-1", "start_pos": "508", "end_pos": "508", "site_lbl": "Tyr508", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ] } ] }, { "uniprot_canonical_ac": "Q62101-1", "start_pos": "554", "end_pos": "554", "site_lbl": "Ser554", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ] } ] }, { "uniprot_canonical_ac": "Q62101-1", "start_pos": "744", "end_pos": "744", "site_lbl": "Ser744", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" }, { "database": "iPTMnet", "id": "Q62101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62101" }, { "database": "PubMed", "id": "10197446", "url": "https://glygen.org/publication/PubMed/10197446" }, { "database": "PubMed", "id": "11514571", "url": "https://glygen.org/publication/PubMed/11514571" }, { "database": "PubMed", "id": "12477719", "url": "https://glygen.org/publication/PubMed/12477719" }, { "database": "PubMed", "id": "14573624", "url": "https://glygen.org/publication/PubMed/14573624" }, { "database": "PubMed", "id": "19289471", "url": "https://glygen.org/publication/PubMed/19289471" }, { "database": "PubMed", "id": "21051537", "url": "https://glygen.org/publication/PubMed/21051537" }, { "database": "PubMed", "id": "21132013", "url": "https://glygen.org/publication/PubMed/21132013" }, { "database": "PubMed", "id": "22227248", "url": "https://glygen.org/publication/PubMed/22227248" }, { "database": "PubMed", "id": "24806360", "url": "https://glygen.org/publication/PubMed/24806360" }, { "database": "PubMed", "id": "29669813", "url": "https://glygen.org/publication/PubMed/29669813" }, { "database": "PubMed", "id": "11410586", "url": "https://glygen.org/publication/PubMed/11410586" }, { "database": "PubMed", "id": "12407104", "url": "https://glygen.org/publication/PubMed/12407104" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of basal kinase activity and phorbol ester-stimulated kinase activity; when associated with A-748.", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" }, { "database": "PubMed", "id": "12407104", "url": "https://glygen.org/publication/PubMed/12407104" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "High basal kinase activity, loss of phorbol ester-stimulated kinase activity; when associated with D-748.", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" }, { "database": "PubMed", "id": "12407104", "url": "https://glygen.org/publication/PubMed/12407104" } ] } ] }, { "uniprot_canonical_ac": "Q62101-1", "start_pos": "748", "end_pos": "748", "site_lbl": "Ser748", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q62101-1", "kinase_gene_name": "Prkd1", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" }, { "database": "iPTMnet", "id": "Q62101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62101" }, { "database": "PubMed", "id": "11410586", "url": "https://glygen.org/publication/PubMed/11410586" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" }, { "database": "iPTMnet", "id": "Q62101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62101" }, { "database": "PubMed", "id": "10197446", "url": "https://glygen.org/publication/PubMed/10197446" }, { "database": "PubMed", "id": "11514571", "url": "https://glygen.org/publication/PubMed/11514571" }, { "database": "PubMed", "id": "14573624", "url": "https://glygen.org/publication/PubMed/14573624" }, { "database": "PubMed", "id": "19289471", "url": "https://glygen.org/publication/PubMed/19289471" }, { "database": "PubMed", "id": "21051537", "url": "https://glygen.org/publication/PubMed/21051537" }, { "database": "PubMed", "id": "21132013", "url": "https://glygen.org/publication/PubMed/21132013" }, { "database": "PubMed", "id": "22227248", "url": "https://glygen.org/publication/PubMed/22227248" }, { "database": "PubMed", "id": "24806360", "url": "https://glygen.org/publication/PubMed/24806360" }, { "database": "PubMed", "id": "29669813", "url": "https://glygen.org/publication/PubMed/29669813" }, { "database": "PubMed", "id": "12407104", "url": "https://glygen.org/publication/PubMed/12407104" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of basal kinase activity and phorbol ester-stimulated kinase activity; when associated with A-744.", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" }, { "database": "PubMed", "id": "12407104", "url": "https://glygen.org/publication/PubMed/12407104" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "High basal kinase activity, loss of phorbol ester-stimulated kinase activity; when associated with D-744.", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" }, { "database": "PubMed", "id": "12407104", "url": "https://glygen.org/publication/PubMed/12407104" } ] } ] }, { "uniprot_canonical_ac": "Q62101-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Tyr755", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ] } ] }, { "uniprot_canonical_ac": "Q62101-1", "start_pos": "916", "end_pos": "916", "site_lbl": "Ser916", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q62101-1", "kinase_gene_name": "Prkd1", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" }, { "database": "iPTMnet", "id": "Q62101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62101" }, { "database": "PubMed", "id": "10473617", "url": "https://glygen.org/publication/PubMed/10473617" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" }, { "database": "iPTMnet", "id": "Q62101", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62101" }, { "database": "PubMed", "id": "11514571", "url": "https://glygen.org/publication/PubMed/11514571" }, { "database": "PubMed", "id": "16098040", "url": "https://glygen.org/publication/PubMed/16098040" }, { "database": "PubMed", "id": "18164589", "url": "https://glygen.org/publication/PubMed/18164589" }, { "database": "PubMed", "id": "19135240", "url": "https://glygen.org/publication/PubMed/19135240" }, { "database": "PubMed", "id": "21051537", "url": "https://glygen.org/publication/PubMed/21051537" }, { "database": "PubMed", "id": "21132013", "url": "https://glygen.org/publication/PubMed/21132013" }, { "database": "PubMed", "id": "24806360", "url": "https://glygen.org/publication/PubMed/24806360" }, { "database": "PubMed", "id": "31591827", "url": "https://glygen.org/publication/PubMed/31591827" }, { "database": "PubMed", "id": "32033440", "url": "https://glygen.org/publication/PubMed/32033440" }, { "database": "PubMed", "id": "32351396", "url": "https://glygen.org/publication/PubMed/32351396" }, { "database": "PubMed", "id": "27184844", "url": "https://glygen.org/publication/PubMed/27184844" } ] } ] }, { "uniprot_canonical_ac": "Q62101-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Tyr93", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62101", "url": "https://www.uniprot.org/uniprotkb/Q62101" } ] } ] } ], "record_id": "Q62101-1" }, { "uniprot_canonical_ac": "O08573-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 353, "chemical_mass": 40036.0, "gene_names": "Lgals9;LGALS35;Lgals5;Lgals9;gal-9;galectin-9", "protein_name": "Galectin-9", "disease": [], "biological_process": [ { "name": "positive regulation of macrophage activation", "id": "GO:0043032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043032", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "regulation of natural killer cell differentiation", "id": "GO:0032823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032823", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "positive regulation of oxidoreductase activity", "id": "GO:0051353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051353", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "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": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "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": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "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": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "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": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "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": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "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": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "receptor clustering", "id": "GO:0043113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043113", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "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": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "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": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "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": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "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": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "maintenance of protein location", "id": "GO:0045185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045185", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "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": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "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": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "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": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "negative regulation of natural killer cell degranulation", "id": "GO:0043322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043322", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "negative regulation of natural killer cell activation", "id": "GO:0032815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032815", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" } ], "molecular_function": [ { "name": "oligosaccharide binding", "id": "GO:0070492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070492", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "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": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "galactoside binding", "id": "GO:0016936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016936", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "disaccharide binding", "id": "GO:0048030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048030", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "O08573", "url": "https://www.uniprot.org/uniprotkb/O08573" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O08573-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Thr208", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 208, "start_aa": "Thr", "end_pos": 208, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr208", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Thr218", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 218, "start_aa": "Thr", "end_pos": 218, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr218", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78857713", "evidence": [ { "id": "rs3389184203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389184203" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Asn273", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NEN->NET); glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78856615", "evidence": [ { "id": "rs3389198966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389198966" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Lys116", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78862237", "evidence": [ { "id": "rs3389178715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389178715" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Val119", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78862229", "evidence": [ { "id": "rs3389198980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389198980" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Asn12", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78875609", "evidence": [ { "id": "rs3389180510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389180510" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Leu141", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78862162", "evidence": [ { "id": "rs3389148741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389148741" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "155", "end_pos": "155", "site_lbl": "His155", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78860610", "evidence": [ { "id": "rs242728395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242728395" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Arg170", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78860566", "evidence": [ { "id": "rs254601537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254601537" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Arg175", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78860551", "evidence": [ { "id": "rs3389180536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389180536" } ] }, { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78860550", "evidence": [ { "id": "rs3389185926", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389185926" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Asn181", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78858853", "evidence": [ { "id": "rs260974193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260974193" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Thr18", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78867514", "evidence": [ { "id": "rs3402366862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402366862" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Thr193", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78858311", "evidence": [ { "id": "rs3389185903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389185903" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Thr194", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78858311", "evidence": [ { "id": "rs3389185903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389185903" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Ser207", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78858272", "evidence": [ { "id": "rs3548971199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3548971199" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Pro209", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78857741", "evidence": [ { "id": "rs3389158734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389158734" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Val214", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78857726", "evidence": [ { "id": "rs223855873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223855873" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Gln22", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78867501", "evidence": [ { "id": "rs3402244708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402244708" } ] }, { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78867502", "evidence": [ { "id": "rs3402244682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402244682" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Gly259", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78856655", "evidence": [ { "id": "rs3389184587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389184587" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Leu25", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78867494", "evidence": [ { "id": "rs3412986303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412986303" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Gly260", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78856655", "evidence": [ { "id": "rs3389184587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389184587" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Asn267", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78856632", "evidence": [ { "id": "rs3389121257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389121257" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Glu27", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78867487", "evidence": [ { "id": "rs3402774697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402774697" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Asp336", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78854277", "evidence": [ { "id": "rs3548748112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3548748112" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Asn53", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78863986", "evidence": [ { "id": "rs257115580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257115580" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Asn62", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78863960", "evidence": [ { "id": "rs3389183178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389183178" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Phe65", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78863950", "evidence": [ { "id": "rs3389180548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389180548" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Thr75", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78863920", "evidence": [ { "id": "rs3389178659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389178659" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Met90", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78863874", "evidence": [ { "id": "rs3402478969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402478969" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Gln93", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78863867", "evidence": [ { "id": "rs3402100428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402100428" } ] }, { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78863866", "evidence": [ { "id": "rs3402471094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402471094" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Gly95", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78863860", "evidence": [ { "id": "rs3389180597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389180597" } ] } ] }, { "uniprot_canonical_ac": "O08573-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Met96", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "11", "chr_pos": "78863856", "evidence": [ { "id": "rs3389121205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389121205" } ] } ] } ], "record_id": "O08573-1" }, { "uniprot_canonical_ac": "P70191-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 558, "chemical_mass": 64145.0, "gene_names": "Traf5;Traf5", "protein_name": "TNF receptor-associated factor 5", "disease": [], "biological_process": [ { "name": "CD40 signaling pathway", "id": "GO:0023035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023035", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "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": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" }, { "name": "mRNA stabilization", "id": "GO:0048255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048255", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "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": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "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": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "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": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" }, { "name": "interleukin-17-mediated signaling pathway", "id": "GO:0097400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097400", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" }, { "name": "CD40 receptor complex", "id": "GO:0035631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035631", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" }, { "name": "thioesterase binding", "id": "GO:0031996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031996", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" }, { "name": "tumor necrosis factor receptor binding", "id": "GO:0005164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005164", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70191-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Ser472", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 472, "start_aa": "Ser", "end_pos": 472, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser472", "evidence": [ { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "P70191", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70191" } ] } ] }, { "uniprot_canonical_ac": "P70191-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Lys455", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KGT->NGT).", "chr_id": "1", "chr_pos": "191729703", "evidence": [ { "id": "rs864306564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864306564" } ] } ] }, { "uniprot_canonical_ac": "P70191-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Lys318", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolished ubiquitination by the SCF(FBXL2) complex.", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" }, { "database": "PubMed", "id": "23542741", "url": "https://glygen.org/publication/PubMed/23542741" } ] } ] }, { "uniprot_canonical_ac": "P70191-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Trp408", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Decreased interaction with FBXL2.", "evidence": [ { "database": "UniProtKB", "id": "P70191", "url": "https://www.uniprot.org/uniprotkb/P70191" }, { "database": "PubMed", "id": "23542741", "url": "https://glygen.org/publication/PubMed/23542741" } ] } ] } ], "record_id": "P70191-1" }, { "uniprot_canonical_ac": "Q61143-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 930, "chemical_mass": 106681.0, "gene_names": "Trpc6;LLHWJM002;LLHWJM003;LLHWJM004;TRP-6;Trp6;Trpc6;Trrp6;mtrp6", "protein_name": "Short transient receptor potential channel 6", "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: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:0111129", "name": "focal segmental glomerulosclerosis 2", "description": "A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the TRPC6 gene on chromosome 11q22.1.", "url": "https://disease-ontology.org/term/DOID:0111129", "evidence": [ { "id": "0111129", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111129" } ], "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: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: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: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: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:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "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": "inositol 1,4,5 trisphosphate binding", "id": "GO:0070679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070679", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "monoatomic ion channel activity", "id": "GO:0005216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005216", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "monoatomic cation channel activity", "id": "GO:0005261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005261", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "store-operated calcium channel activity", "id": "GO:0015279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015279", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "actinin binding", "id": "GO:0042805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042805", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" } ], "cellular_component": [ { "name": "cation channel complex", "id": "GO:0034703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034703", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "slit diaphragm", "id": "GO:0036057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036057", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "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": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "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": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "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": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "single fertilization", "id": "GO:0007338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007338", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "negative regulation of dendrite morphogenesis", "id": "GO:0050774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050774", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "positive regulation of ion transmembrane transporter activity", "id": "GO:0032414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032414", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "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": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61143-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Asn472", "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": "LLPNETSTDNAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 472, "start_aa": "Asn", "end_pos": 472, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn472", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q61143-1", "start_pos": "560", "end_pos": "560", "site_lbl": "Asn560", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 560, "start_aa": "Asn", "end_pos": 560, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn560", "evidence": [ { "id": "Q61143", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61143#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61143-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Thr69", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q61143", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61143" }, { "database": "PubMed", "id": "23814119", "url": "https://glygen.org/publication/PubMed/23814119" }, { "database": "PubMed", "id": "36068079", "url": "https://glygen.org/publication/PubMed/36068079" } ] } ] }, { "uniprot_canonical_ac": "Q61143-1", "start_pos": "814", "end_pos": "814", "site_lbl": "Ser814", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61143", "url": "https://www.uniprot.org/uniprotkb/Q61143" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61143", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61143" } ] } ] } ], "record_id": "Q61143-1" }, { "uniprot_canonical_ac": "P26039-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2541, "chemical_mass": 269821.0, "gene_names": "Tln1;Tln1;Tln", "protein_name": "Talin-1", "disease": [], "biological_process": [ { "name": "cell-substrate junction assembly", "id": "GO:0007044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007044", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "integrin activation", "id": "GO:0033622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033622", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "cortical microtubule organization", "id": "GO:0043622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043622", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" } ], "molecular_function": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "vinculin binding", "id": "GO:0017166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017166", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "LIM domain binding", "id": "GO:0030274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030274", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P26039-1", "start_pos": "1428", "end_pos": "1428", "site_lbl": "Thr1428", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1428, "start_aa": "Thr", "end_pos": 1428, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1428", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P26039", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "1430", "end_pos": "1430", "site_lbl": "Ser1430", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1430, "start_aa": "Ser", "end_pos": 1430, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1430", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P26039", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "2098", "end_pos": "2098", "site_lbl": "Thr2098", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2098, "start_aa": "Thr", "end_pos": 2098, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2098", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "P26039", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P26039" }, { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "P26039", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "2169", "end_pos": "2169", "site_lbl": "Thr2169", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2169, "start_aa": "Thr", "end_pos": 2169, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2169", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P26039", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "2170", "end_pos": "2170", "site_lbl": "Ser2170", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2170, "start_aa": "Ser", "end_pos": 2170, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2170", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P26039", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "2171", "end_pos": "2171", "site_lbl": "Thr2171", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2171, "start_aa": "Thr", "end_pos": 2171, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2171", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P26039", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "927", "end_pos": "927", "site_lbl": "Ser927", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 927, "start_aa": "Ser", "end_pos": 927, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser927", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P26039", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "929", "end_pos": "929", "site_lbl": "Thr929", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 929, "start_aa": "Thr", "end_pos": 929, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr929", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P26039", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "931", "end_pos": "931", "site_lbl": "Thr931", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 931, "start_aa": "Thr", "end_pos": 931, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr931", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P26039", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "1021", "end_pos": "1021", "site_lbl": "Ser1021", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "1116", "end_pos": "1116", "site_lbl": "Tyr1116", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "iPTMnet", "id": "P26039", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "1142", "end_pos": "1142", "site_lbl": "Thr1142", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "1201", "end_pos": "1201", "site_lbl": "Ser1201", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "1225", "end_pos": "1225", "site_lbl": "Ser1225", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "1263", "end_pos": "1263", "site_lbl": "Thr1263", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "1323", "end_pos": "1323", "site_lbl": "Ser1323", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "1328", "end_pos": "1328", "site_lbl": "Ser1328", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P26039", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Thr167", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "1849", "end_pos": "1849", "site_lbl": "Ser1849", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "1855", "end_pos": "1855", "site_lbl": "Thr1855", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "1878", "end_pos": "1878", "site_lbl": "Ser1878", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P26039", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "2040", "end_pos": "2040", "site_lbl": "Ser2040", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P26039", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Ser405", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "425", "end_pos": "425", "site_lbl": "Ser425", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P26039", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Ser446", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P26039", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "620", "end_pos": "620", "site_lbl": "Ser620", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P26039", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "729", "end_pos": "729", "site_lbl": "Ser729", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P26039", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26039" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "1817", "end_pos": "1817", "site_lbl": "Ala1817", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEA->NET).", "chr_id": "4", "chr_pos": "43538252", "evidence": [ { "id": "rs3388673038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388673038" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Lys284", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KNC->NNC).", "chr_id": "4", "chr_pos": "43553542", "evidence": [ { "id": "rs3394224034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394224034" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "1404", "end_pos": "1404", "site_lbl": "Gly1404", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "L", "comment": "Does not affect focal adhesion (FA) formation, cell adhesion and spreading. Impairs the interaction with KANK1 and abrogates KANK1 association with FAs. Interferes with CMSCs clustering and causes microtubule disorganization in the vicinity of FAs.", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" }, { "database": "PubMed", "id": "27410476", "url": "https://glygen.org/publication/PubMed/27410476" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "1630", "end_pos": "1630", "site_lbl": "Trp1630", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Impairs the interaction with KANK1.", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" }, { "database": "PubMed", "id": "27410476", "url": "https://glygen.org/publication/PubMed/27410476" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "1641", "end_pos": "1641", "site_lbl": "Ser1641", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "E", "comment": "Does not significantly affect the interaction with KANK1.", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" }, { "database": "PubMed", "id": "27410476", "url": "https://glygen.org/publication/PubMed/27410476" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "809", "end_pos": "809", "site_lbl": "Thr809", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Reduces stability and binding to VCL with little effect on binding to APBB1IP; when associated with V-833; V-867 and I-901.", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" }, { "database": "PubMed", "id": "23389036", "url": "https://glygen.org/publication/PubMed/23389036" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "833", "end_pos": "833", "site_lbl": "Thr833", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "V", "comment": "Reduces stability and binding to VCL with little effect on binding to APBB1IP; when associated with I-809; V-867 and I-901.", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" }, { "database": "PubMed", "id": "23389036", "url": "https://glygen.org/publication/PubMed/23389036" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "867", "end_pos": "867", "site_lbl": "Thr867", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "V", "comment": "Reduces stability and binding to VCL with little effect on binding to APBB1IP; when associated with I-809; V-833 and I-901.", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" }, { "database": "PubMed", "id": "23389036", "url": "https://glygen.org/publication/PubMed/23389036" } ] } ] }, { "uniprot_canonical_ac": "P26039-1", "start_pos": "901", "end_pos": "901", "site_lbl": "Thr901", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Reduces stability and binding to VCL with little effect on binding to APBB1IP; when associated with I-809; V-833 and V-867.", "evidence": [ { "database": "UniProtKB", "id": "P26039", "url": "https://www.uniprot.org/uniprotkb/P26039" }, { "database": "PubMed", "id": "23389036", "url": "https://glygen.org/publication/PubMed/23389036" } ] } ] } ], "record_id": "P26039-1" }, { "uniprot_canonical_ac": "Q922J3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1391, "chemical_mass": 155814.0, "gene_names": "Clip1;1110007I12Rik;4631429H07Rik;CLIP-170;CLIP170;CYLN1;Clip1;Clip50;Kiaa4046;Rsn;mKIAA4046;restin", "protein_name": "CAP-Gly domain-containing linker protein 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "cytoplasmic microtubule", "id": "GO:0005881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005881", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "microtubule plus-end", "id": "GO:0035371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035371", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "macropinosome", "id": "GO:0044354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044354", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "microtubule plus-end binding", "id": "GO:0051010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051010", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of microtubule polymerization", "id": "GO:0031116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031116", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "protein transport into plasma membrane raft", "id": "GO:0044861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044861", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "positive regulation of dendrite development", "id": "GO:1900006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900006", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "microtubule bundle formation", "id": "GO:0001578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001578", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" }, { "name": "cytoplasmic microtubule organization", "id": "GO:0031122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Thr144", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 144, "start_aa": "Thr", "end_pos": 144, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr144", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q922J3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q922J3" }, { "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": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Ser146", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 146, "start_aa": "Ser", "end_pos": 146, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser146", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q922J3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q922J3" }, { "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": "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": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "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": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q922J3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q922J3" }, { "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": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q922J3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q922J3" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Thr154", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 154, "start_aa": "Thr", "end_pos": 154, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr154", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q922J3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q922J3" }, { "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": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q922J3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q922J3" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Ser157", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 157, "start_aa": "Ser", "end_pos": 157, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser157", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q922J3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q922J3" }, { "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": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "158", "end_pos": "158", "site_lbl": "Ser158", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 158, "start_aa": "Ser", "end_pos": 158, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser158", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q922J3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q922J3" }, { "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": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "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": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q922J3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q922J3" }, { "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": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Thr162", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 162, "start_aa": "Thr", "end_pos": 162, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr162", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Ser164", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 164, "start_aa": "Ser", "end_pos": 164, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser164", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q922J3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q922J3" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Asn186", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G94452LM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TASPLSTAAATMVSSSPATPSNIPHKPSQSTAKEPSATPQISNLTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 186, "start_aa": "Asn", "end_pos": 186, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn186", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "1189", "end_pos": "1189", "site_lbl": "Ser1189", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "1317", "end_pos": "1317", "site_lbl": "Ser1317", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q922J3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q922J3" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Thr181", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Ser194", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q922J3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q922J3" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Ser196", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Ser199", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" }, { "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": "Q922J3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q922J3" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" }, { "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": "Q922J3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q922J3" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ser309", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Ser311", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Ser314", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q922J3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q922J3" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Ser347", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ] } ] }, { "uniprot_canonical_ac": "Q922J3-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Thr50", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922J3", "url": "https://www.uniprot.org/uniprotkb/Q922J3" } ] } ] } ], "record_id": "Q922J3-1" }, { "uniprot_canonical_ac": "E9Q8I9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 3020, "chemical_mass": 339093.0, "gene_names": "Fry;13CDNA73;9330186A19Rik;D930046M03;Fry;Kiaa4143;cg003;mKIAA4143", "protein_name": "Protein furry 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 } ], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" } ], "pmid": "" }, { "name": "site of polarized growth", "id": "GO:0030427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030427", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme inhibitor activity", "id": "GO:0004857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004857", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" } ], "pmid": "" } ], "biological_process": [ { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" } ], "pmid": "" }, { "name": "negative regulation of tubulin deacetylation", "id": "GO:1904428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904428", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "1578", "end_pos": "1578", "site_lbl": "Asn1578", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G11314AS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YSNSSGGSYDEDK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1578, "start_aa": "Asn", "end_pos": 1578, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1578", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "1965", "end_pos": "1965", "site_lbl": "Thr1965", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1965, "start_aa": "Thr", "end_pos": 1965, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1965", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "1977", "end_pos": "1977", "site_lbl": "Asn1977", "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": "KSTGQLNVNPGTPGSGGGGGGSGNTTTAER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1977, "start_aa": "Asn", "end_pos": 1977, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1977", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "2357", "end_pos": "2357", "site_lbl": "Asn2357", "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": "RYDELQNSSGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2357, "start_aa": "Asn", "end_pos": 2357, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2357", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "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": "150374561", "evidence": [ { "id": "rs3543942123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543942123" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Asn73", "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": "SLFVNFTTQAER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 73, "start_aa": "Asn", "end_pos": 73, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn73", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "1382", "end_pos": "1382", "site_lbl": "Ser1382", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q8I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q8I9" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "1383", "end_pos": "1383", "site_lbl": "Ser1383", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q8I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q8I9" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "1936", "end_pos": "1936", "site_lbl": "Ser1936", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q8I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q8I9" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "1940", "end_pos": "1940", "site_lbl": "Ser1940", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q8I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q8I9" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Tyr213", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "2427", "end_pos": "2427", "site_lbl": "Ser2427", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q8I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q8I9" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "2428", "end_pos": "2428", "site_lbl": "Ser2428", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q8I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q8I9" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "2495", "end_pos": "2495", "site_lbl": "Ser2495", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q8I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q8I9" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "2516", "end_pos": "2516", "site_lbl": "Thr2516", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" }, { "database": "iPTMnet", "id": "E9Q8I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q8I9" }, { "database": "PubMed", "id": "22753416", "url": "https://glygen.org/publication/PubMed/22753416" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Loss of phosphorylation by CDK1. Loss of PLK1-binding.", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" }, { "database": "PubMed", "id": "22753416", "url": "https://glygen.org/publication/PubMed/22753416" } ] }, { "sequence_org": "T", "sequence_mut": "E", "comment": "Loss of PLK1-binding.", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" }, { "database": "PubMed", "id": "22753416", "url": "https://glygen.org/publication/PubMed/22753416" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "2815", "end_pos": "2815", "site_lbl": "Ser2815", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q8I9", "url": "https://www.uniprot.org/uniprotkb/E9Q8I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q8I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q8I9" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "1702", "end_pos": "1702", "site_lbl": "Asn1702", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSN->NST).", "chr_id": "5", "chr_pos": "150351602", "evidence": [ { "id": "rs3388814254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388814254" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "1757", "end_pos": "1757", "site_lbl": "Ser1757", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "5", "chr_pos": "150353254", "evidence": [ { "id": "rs3388813956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388813956" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "2359", "end_pos": "2359", "site_lbl": "Ser2359", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NSS->NSF).", "chr_id": "5", "chr_pos": "150374567", "evidence": [ { "id": "rs3388801054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801054" } ] } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "start_pos": "2457", "end_pos": "2457", "site_lbl": "Thr2457", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TNS->NNS).", "chr_id": "5", "chr_pos": "150381310", "evidence": [ { "id": "rs3388796403", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388796403" } ] } ] } ], "record_id": "E9Q8I9-1" }, { "uniprot_canonical_ac": "Q571F8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q571F8", "url": "https://www.uniprot.org/uniprotkb/Q571F8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 602, "chemical_mass": 66366.0, "gene_names": "Gls2;A330074B06Rik;GA;GLS;Gls2;Kiaa4146;Lga", "protein_name": "Glutaminase liver isoform, mitochondrial", "disease": [ { "disease_id": "DOID:0112207", "name": "developmental and epileptic encephalopathy 71", "description": "A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2.", "url": "https://disease-ontology.org/term/DOID:0112207", "evidence": [ { "id": "0112207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112207" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q571F8", "url": "https://www.uniprot.org/uniprotkb/Q571F8" } ], "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": "Q571F8", "url": "https://www.uniprot.org/uniprotkb/Q571F8" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "Q571F8", "url": "https://www.uniprot.org/uniprotkb/Q571F8" } ], "pmid": "" }, { "name": "glutamate biosynthetic process", "id": "GO:0006537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006537", "evidence": [ { "database": "UniProtKB", "id": "Q571F8", "url": "https://www.uniprot.org/uniprotkb/Q571F8" } ], "pmid": "" }, { "name": "L-glutamine catabolic process", "id": "GO:0006543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006543", "evidence": [ { "database": "UniProtKB", "id": "Q571F8", "url": "https://www.uniprot.org/uniprotkb/Q571F8" } ], "pmid": "" }, { "name": "glutamine metabolic process", "id": "GO:0006541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006541", "evidence": [ { "database": "UniProtKB", "id": "Q571F8", "url": "https://www.uniprot.org/uniprotkb/Q571F8" } ], "pmid": "" } ], "molecular_function": [ { "name": "glutaminase activity", "id": "GO:0004359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004359", "evidence": [ { "database": "UniProtKB", "id": "Q571F8", "url": "https://www.uniprot.org/uniprotkb/Q571F8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q571F8-1" }, { "uniprot_canonical_ac": "Q8C0L9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C0L9", "url": "https://www.uniprot.org/uniprotkb/Q8C0L9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 675, "chemical_mass": 76579.0, "gene_names": "Gpcpd1;2310004G06Rik;2310032D16Rik;Gde5;Gpcpd1;Kiaa1434;Prei4;mKIAA1434", "protein_name": "Glycerophosphocholine phosphodiesterase GPCPD1", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8C0L9", "url": "https://www.uniprot.org/uniprotkb/Q8C0L9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C0L9", "url": "https://www.uniprot.org/uniprotkb/Q8C0L9" } ], "pmid": "" } ], "biological_process": [ { "name": "glycerophospholipid catabolic process", "id": "GO:0046475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046475", "evidence": [ { "database": "UniProtKB", "id": "Q8C0L9", "url": "https://www.uniprot.org/uniprotkb/Q8C0L9" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "Q8C0L9", "url": "https://www.uniprot.org/uniprotkb/Q8C0L9" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q8C0L9", "url": "https://www.uniprot.org/uniprotkb/Q8C0L9" } ], "pmid": "" } ], "molecular_function": [ { "name": "glycerophosphodiester phosphodiesterase activity", "id": "GO:0008889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008889", "evidence": [ { "database": "UniProtKB", "id": "Q8C0L9", "url": "https://www.uniprot.org/uniprotkb/Q8C0L9" } ], "pmid": "" }, { "name": "starch binding", "id": "GO:2001070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001070", "evidence": [ { "database": "UniProtKB", "id": "Q8C0L9", "url": "https://www.uniprot.org/uniprotkb/Q8C0L9" } ], "pmid": "" }, { "name": "glycerophosphocholine phosphodiesterase activity", "id": "GO:0047389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047389", "evidence": [ { "database": "UniProtKB", "id": "Q8C0L9", "url": "https://www.uniprot.org/uniprotkb/Q8C0L9" } ], "pmid": "" }, { "name": "phosphoric diester hydrolase activity", "id": "GO:0008081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008081", "evidence": [ { "database": "UniProtKB", "id": "Q8C0L9", "url": "https://www.uniprot.org/uniprotkb/Q8C0L9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Ser178", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C0L9", "url": "https://www.uniprot.org/uniprotkb/Q8C0L9" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Ser427", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C0L9", "url": "https://www.uniprot.org/uniprotkb/Q8C0L9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C0L9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C0L9" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "611", "end_pos": "611", "site_lbl": "Tyr611", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C0L9", "url": "https://www.uniprot.org/uniprotkb/Q8C0L9" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q8C0L9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C0L9" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Ser140", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132395931", "evidence": [ { "id": "rs3388594287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388594287" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Lys142", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132395925", "evidence": [ { "id": "rs3388589683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388589683" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Leu14", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132414113", "evidence": [ { "id": "rs3388594065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388594065" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Lys151", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132395898", "evidence": [ { "id": "rs3388594056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388594056" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Glu170", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132392438", "evidence": [ { "id": "rs245152687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245152687" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "183", "end_pos": "183", "site_lbl": "His183", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132392400", "evidence": [ { "id": "rs3388594353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388594353" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Cys208", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132392324", "evidence": [ { "id": "rs3392096626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392096626" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Gln223", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132382220", "evidence": [ { "id": "rs3388596041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388596041" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "244", "end_pos": "244", "site_lbl": "His244", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132389624", "evidence": [ { "id": "rs3388586899", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388586899" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Gln247", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132389615", "evidence": [ { "id": "rs3388592897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388592897" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Gly256", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132389587", "evidence": [ { "id": "rs3388591183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388591183" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Ser262", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132389569", "evidence": [ { "id": "rs3388597984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388597984" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Trp32", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132410591", "evidence": [ { "id": "rs3388581111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388581111" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Ile398", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132382249", "evidence": [ { "id": "rs3388586817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388586817" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Pro399", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132382246", "evidence": [ { "id": "rs3388589688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388589688" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "407", "end_pos": "407", "site_lbl": "Gln407", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132382220", "evidence": [ { "id": "rs3388596041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388596041" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Leu411", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132382208", "evidence": [ { "id": "rs1132428427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132428427" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Lys462", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132378624", "evidence": [ { "id": "rs3388597949", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388597949" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "478", "end_pos": "478", "site_lbl": "Thr478", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132377390", "evidence": [ { "id": "rs3392150487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392150487" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Phe480", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132377385", "evidence": [ { "id": "rs3392095774", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392095774" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Leu490", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132377353", "evidence": [ { "id": "rs3388594315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388594315" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "495", "end_pos": "495", "site_lbl": "Glu495", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132377340", "evidence": [ { "id": "rs3388596221", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388596221" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "536", "end_pos": "536", "site_lbl": "Pro536", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132376689", "evidence": [ { "id": "rs1135037925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135037925" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Thr546", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132376658", "evidence": [ { "id": "rs1132733650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132733650" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Pro547", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132376655", "evidence": [ { "id": "rs1132408313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132408313" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "549", "end_pos": "549", "site_lbl": "Ala549", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132376649", "evidence": [ { "id": "rs1132679485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132679485" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Phe552", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132376639", "evidence": [ { "id": "rs1133412819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133412819" } ] }, { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132376640", "evidence": [ { "id": "rs1133753193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133753193" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Ile558", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132376622", "evidence": [ { "id": "rs3388594328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388594328" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Lys602", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132376028", "evidence": [ { "id": "rs13464960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13464960" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "629", "end_pos": "629", "site_lbl": "Gln629", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132372616", "evidence": [ { "id": "rs3388596006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388596006" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "631", "end_pos": "631", "site_lbl": "Glu631", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132372609", "evidence": [ { "id": "rs3388594074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388594074" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Ser649", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132372556", "evidence": [ { "id": "rs3388594809", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388594809" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "661", "end_pos": "661", "site_lbl": "Asp661", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132372519", "evidence": [ { "id": "rs3392294068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392294068" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "668", "end_pos": "668", "site_lbl": "Gly668", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132372499", "evidence": [ { "id": "rs3388594403", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388594403" } ] } ] }, { "uniprot_canonical_ac": "Q8C0L9-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Glu9", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate binding module.", "chr_id": "2", "chr_pos": "132414128", "evidence": [ { "id": "rs3412992119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412992119" } ] } ] } ], "record_id": "Q8C0L9-1" }, { "uniprot_canonical_ac": "O08917-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 428, "chemical_mass": 47513.0, "gene_names": "Flot1;Flot1;reggie-2", "protein_name": "Flotillin-1", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "plasma membrane raft", "id": "GO:0044853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044853", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton", "id": "GO:0030864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030864", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "cell-cell contact zone", "id": "GO:0044291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044291", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "COP9 signalosome", "id": "GO:0008180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008180", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "dopaminergic synapse", "id": "GO:0098691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098691", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "flotillin complex", "id": "GO:0016600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016600", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "uropod", "id": "GO:0001931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001931", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor binding", "id": "GO:0035255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035255", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "extracellular matrix disassembly", "id": "GO:0022617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022617", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "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": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "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": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "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": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "cell-cell junction assembly", "id": "GO:0007043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007043", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "adherens junction organization", "id": "GO:0034332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034332", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "regulation of receptor internalization", "id": "GO:0002090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002090", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "regulation of neurotransmitter uptake", "id": "GO:0051580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051580", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "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": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "caveola assembly", "id": "GO:0070836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070836", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" }, { "name": "plasma membrane raft assembly", "id": "GO:0044854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044854", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O08917-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Ser163", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ] } ] }, { "uniprot_canonical_ac": "O08917-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Ser19", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ] } ] }, { "uniprot_canonical_ac": "O08917-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Ser385", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ] } ] }, { "uniprot_canonical_ac": "O08917-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Thr387", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08917", "url": "https://www.uniprot.org/uniprotkb/O08917" } ] } ] } ], "record_id": "O08917-1" }, { "uniprot_canonical_ac": "D3Z430-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3Z430", "url": "https://www.uniprot.org/uniprotkb/D3Z430" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 149, "chemical_mass": 16279.0, "gene_names": "Cimip5;2410004P03Rik;Cimip5", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "D3Z430", "url": "https://www.uniprot.org/uniprotkb/D3Z430" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3Z430-1" }, { "uniprot_canonical_ac": "Q9CWK3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CWK3", "url": "https://www.uniprot.org/uniprotkb/Q9CWK3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 342, "chemical_mass": 37694.0, "gene_names": "Cd2bp2;1500011B02Rik;2410024K20Rik;Cd2bp2", "protein_name": "CD2 antigen cytoplasmic tail-binding protein 2", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CWK3", "url": "https://www.uniprot.org/uniprotkb/Q9CWK3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CWK3", "url": "https://www.uniprot.org/uniprotkb/Q9CWK3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9CWK3", "url": "https://www.uniprot.org/uniprotkb/Q9CWK3" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9CWK3", "url": "https://www.uniprot.org/uniprotkb/Q9CWK3" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q9CWK3", "url": "https://www.uniprot.org/uniprotkb/Q9CWK3" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q9CWK3", "url": "https://www.uniprot.org/uniprotkb/Q9CWK3" } ], "pmid": "" }, { "name": "U5 snRNP", "id": "GO:0005682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005682", "evidence": [ { "database": "UniProtKB", "id": "Q9CWK3", "url": "https://www.uniprot.org/uniprotkb/Q9CWK3" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q9CWK3", "url": "https://www.uniprot.org/uniprotkb/Q9CWK3" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q9CWK3", "url": "https://www.uniprot.org/uniprotkb/Q9CWK3" } ], "pmid": "" } ], "molecular_function": [ { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "Q9CWK3", "url": "https://www.uniprot.org/uniprotkb/Q9CWK3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CWK3-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Thr265", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 265, "start_aa": "Thr", "end_pos": 265, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr265", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9CWK3-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Ser117", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CWK3", "url": "https://www.uniprot.org/uniprotkb/Q9CWK3" } ] } ] }, { "uniprot_canonical_ac": "Q9CWK3-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Ser196", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CWK3", "url": "https://www.uniprot.org/uniprotkb/Q9CWK3" } ] } ] }, { "uniprot_canonical_ac": "Q9CWK3-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Ser46", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CWK3", "url": "https://www.uniprot.org/uniprotkb/Q9CWK3" } ] } ] }, { "uniprot_canonical_ac": "Q9CWK3-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Ser49", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CWK3", "url": "https://www.uniprot.org/uniprotkb/Q9CWK3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CWK3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CWK3" } ] } ] } ], "record_id": "Q9CWK3-1" }, { "uniprot_canonical_ac": "P16092-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 822, "chemical_mass": 91981.0, "gene_names": "Fgfr1;Eask;FGFR-I;FLG;Fgfr-1;Fgfr1;Flg;Flt-2;Fr1;Hspy;MFR;bFGF-R-1;c-fgr", "protein_name": "Fibroblast growth factor receptor 1", "disease": [ { "disease_id": "DOID:0050852", "name": "limb ischemia", "description": "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply.", "url": "https://disease-ontology.org/term/DOID:0050852", "evidence": [ { "id": "0050852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050852" } ], "weight": 0.0 }, { "disease_id": "DOID:0060597", "name": "atypical chronic myeloid leukemia, BCR-ABL1 negative", "description": "A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene.", "url": "https://disease-ontology.org/term/DOID:0060597", "evidence": [ { "id": "0060597", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060597" } ], "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: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:0081312", "name": "T-cell non-Hodgkin lymphoma", "description": "A non-Hodgkin lymphoma of T-cell lineage.", "url": "https://disease-ontology.org/term/DOID:0081312", "evidence": [ { "id": "0081312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081312" } ], "weight": 0.0 }, { "disease_id": "DOID:0090078", "name": "hypogonadotropic hypogonadism 7 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.", "url": "https://disease-ontology.org/term/DOID:0090078", "evidence": [ { "id": "0090078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090078" } ], "weight": 0.0 }, { "disease_id": "DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.", "url": "https://disease-ontology.org/term/DOID:0090083", "evidence": [ { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ], "weight": 0.0 }, { "disease_id": "DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.", "url": "https://disease-ontology.org/term/DOID:0111337", "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ], "weight": 0.0 }, { "disease_id": "DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23.", "url": "https://disease-ontology.org/term/DOID:0111532", "evidence": [ { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ], "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: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: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: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: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:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14705", "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ], "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: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:403", "name": "mouth disease", "description": "A gastrointestinal system disease that is located_in the mouth.", "url": "https://disease-ontology.org/term/DOID:403", "evidence": [ { "id": "403", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:403" } ], "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:4783", "name": "mesangial proliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:4783", "evidence": [ { "id": "4783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4783" } ], "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: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: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: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: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: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: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: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 }, { "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": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" } ], "biological_process": [ { "name": "organ induction", "id": "GO:0001759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001759", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "regulation of phosphate transport", "id": "GO:0010966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010966", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "regulation of phosphorus metabolic process", "id": "GO:0051174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051174", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway", "id": "GO:0090080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090080", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "response to sodium phosphate", "id": "GO:1904383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904383", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "diphosphate metabolic process", "id": "GO:0071344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071344", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell chemotaxis", "id": "GO:2001028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001028", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "regulation of stem cell proliferation", "id": "GO:0072091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072091", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "middle ear morphogenesis", "id": "GO:0042474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042474", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "positive regulation of fibroblast migration", "id": "GO:0010763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010763", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "central nervous system neuron development", "id": "GO:0021954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021954", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "orbitofrontal cortex development", "id": "GO:0021769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021769", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "ear development", "id": "GO:0043583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043583", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "generation of neurons", "id": "GO:0048699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048699", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "cementum mineralization", "id": "GO:0071529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071529", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "mesenchymal cell differentiation", "id": "GO:0048762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048762", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "regulation of lateral mesodermal cell fate specification", "id": "GO:0048378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048378", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell proliferation", "id": "GO:0060045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "paraxial mesoderm development", "id": "GO:0048339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048339", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "lung-associated mesenchyme development", "id": "GO:0060484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060484", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "ventricular zone neuroblast division", "id": "GO:0021847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021847", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development", "id": "GO:0035607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035607", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling", "id": "GO:0060665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060665", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "auditory receptor cell development", "id": "GO:0060117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060117", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "vitamin D3 metabolic process", "id": "GO:0070640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070640", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "negative regulation of fibroblast growth factor production", "id": "GO:0090272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090272", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle DNA replication", "id": "GO:1903465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903465", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "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": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001239", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "tangential migration from the subventricular zone to the olfactory bulb", "id": "GO:0022028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022028", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "cell projection assembly", "id": "GO:0030031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030031", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "vasculogenesis involved in coronary vascular morphogenesis", "id": "GO:0060979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060979", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "outer ear morphogenesis", "id": "GO:0042473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042473", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "regulation of postsynaptic density assembly", "id": "GO:0099151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099151", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "postnatal olfactory bulb interneuron migration", "id": "GO:0021827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021827", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" } ], "molecular_function": [ { "name": "fibroblast growth factor receptor activity", "id": "GO:0005007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005007", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "SH2 domain binding", "id": "GO:0042169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042169", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "receptor-receptor interaction", "id": "GO:0090722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090722", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" }, { "name": "fibroblast growth factor binding", "id": "GO:0017134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017134", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P16092-1", "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": "P16092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P16092#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "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": "P16092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P16092#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Asn240", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 240, "start_aa": "Asn", "end_pos": 240, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn240", "evidence": [ { "id": "P16092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P16092#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Asn264", "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": 264, "start_aa": "Asn", "end_pos": 264, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn264", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2314", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2314" } ] }, { "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": 264, "start_aa": "Asn", "end_pos": 264, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn264", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2314", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2314" } ] }, { "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": 264, "start_aa": "Asn", "end_pos": 264, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn264", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2314", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2314" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PILQAGLPANK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 264, "start_aa": "Asn", "end_pos": 264, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn264", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 264, "start_aa": "Asn", "end_pos": 264, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn264", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2314", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2314" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 264, "start_aa": "Asn", "end_pos": 264, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn264", "evidence": [ { "id": "P16092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P16092#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Asn296", "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": "HIEVNGSK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "P16092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P16092#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NGS->SGS); glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26052295", "evidence": [ { "id": "rs3388970062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388970062" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Asn317", "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": "TAGVNTTDKEMEVLHLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 317, "start_aa": "Asn", "end_pos": 317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn317", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 317, "start_aa": "Asn", "end_pos": 317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn317", "evidence": [ { "id": "P16092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P16092#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "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": "P16092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P16092#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Asn724", "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": "PSNCTNELYMMMR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 724, "start_aa": "Asn", "end_pos": 724, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn724", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "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": "21540332", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21540332" }, { "id": "P16092", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P16092" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "P16092", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P16092" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Asn77", "weight": 0.0, "glycosylation": [ { "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": 77, "start_aa": "Asn", "end_pos": 77, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn77", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2314", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2314" } ] }, { "glytoucan_ac": "G87389XI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DGVQLVESNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 77, "start_aa": "Asn", "end_pos": 77, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn77", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 77, "start_aa": "Asn", "end_pos": 77, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn77", "evidence": [ { "id": "P16092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P16092#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Tyr463", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" }, { "database": "iPTMnet", "id": "P16092", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P16092" }, { "database": "PubMed", "id": "19549074", "url": "https://glygen.org/publication/PubMed/19549074" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "583", "end_pos": "583", "site_lbl": "Tyr583", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" }, { "database": "iPTMnet", "id": "P16092", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P16092" }, { "database": "PubMed", "id": "31097591", "url": "https://glygen.org/publication/PubMed/31097591" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "585", "end_pos": "585", "site_lbl": "Tyr585", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" }, { "database": "iPTMnet", "id": "P16092", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P16092" }, { "database": "PubMed", "id": "31097591", "url": "https://glygen.org/publication/PubMed/31097591" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "653", "end_pos": "653", "site_lbl": "Tyr653", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" }, { "database": "iPTMnet", "id": "P16092", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P16092" }, { "database": "PubMed", "id": "31097591", "url": "https://glygen.org/publication/PubMed/31097591" }, { "database": "PubMed", "id": "32024006", "url": "https://glygen.org/publication/PubMed/32024006" } ] } ], "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26062457", "evidence": [ { "id": "rs3388977955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388977955" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "654", "end_pos": "654", "site_lbl": "Tyr654", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" }, { "database": "iPTMnet", "id": "P16092", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P16092" }, { "database": "PubMed", "id": "31097591", "url": "https://glygen.org/publication/PubMed/31097591" }, { "database": "PubMed", "id": "32024006", "url": "https://glygen.org/publication/PubMed/32024006" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "730", "end_pos": "730", "site_lbl": "Tyr730", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "766", "end_pos": "766", "site_lbl": "Tyr766", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16092", "url": "https://www.uniprot.org/uniprotkb/P16092" }, { "database": "iPTMnet", "id": "P16092", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P16092" }, { "database": "PubMed", "id": "19549074", "url": "https://glygen.org/publication/PubMed/19549074" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Thr319", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NTT->NTI); glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26054375", "evidence": [ { "id": "rs3388959207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388959207" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Thr141", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26047809", "evidence": [ { "id": "rs249024346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249024346" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Ala16", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26048133", "evidence": [ { "id": "rs3388974355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388974355" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Lys192", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26048212", "evidence": [ { "id": "rs3388970042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388970042" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Glu233", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26050811", "evidence": [ { "id": "rs3388973169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388973169" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Val295", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26052291", "evidence": [ { "id": "rs3388970063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388970063" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Pro306", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26052325", "evidence": [ { "id": "rs3388953584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388953584" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Ala314", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26054360", "evidence": [ { "id": "rs3388976851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388976851" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Arg329", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26054405", "evidence": [ { "id": "rs3388976788", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388976788" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Asn345", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26054452", "evidence": [ { "id": "rs3388962918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388962918" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Val40", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26045551", "evidence": [ { "id": "rs47309288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47309288" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Leu423", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26056912", "evidence": [ { "id": "rs3388962974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388962974" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Arg477", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26058349", "evidence": [ { "id": "rs3388977769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388977769" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Val511", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26059755", "evidence": [ { "id": "rs3388953549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388953549" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Asn543", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26060232", "evidence": [ { "id": "rs3388977952", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388977952" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "564", "end_pos": "564", "site_lbl": "Ala564", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26060753", "evidence": [ { "id": "rs3388953564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388953564" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "628", "end_pos": "628", "site_lbl": "Asn628", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26062383", "evidence": [ { "id": "rs3388947175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388947175" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Gln62", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26045617", "evidence": [ { "id": "rs3388959179", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388959179" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "642", "end_pos": "642", "site_lbl": "Phe642", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26062423", "evidence": [ { "id": "rs3388977534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388977534" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "675", "end_pos": "675", "site_lbl": "Arg675", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26062780", "evidence": [ { "id": "rs3388930588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388930588" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "686", "end_pos": "686", "site_lbl": "Phe686", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26063147", "evidence": [ { "id": "rs3388959203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388959203" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Arg68", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26045634", "evidence": [ { "id": "rs3546417614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546417614" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "694", "end_pos": "694", "site_lbl": "Phe694", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26063171", "evidence": [ { "id": "rs3388973164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388973164" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "708", "end_pos": "708", "site_lbl": "Glu708", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26063212", "evidence": [ { "id": "rs3388969671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388969671" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "737", "end_pos": "737", "site_lbl": "Trp737", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26063586", "evidence": [ { "id": "rs3399012229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399012229" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "745", "end_pos": "745", "site_lbl": "Pro745", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26063609", "evidence": [ { "id": "rs3388977476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388977476" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "763", "end_pos": "763", "site_lbl": "Asn763", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26063663", "evidence": [ { "id": "rs3388969755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388969755" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "778", "end_pos": "778", "site_lbl": "Pro778", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26063800", "evidence": [ { "id": "rs3388953588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388953588" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "788", "end_pos": "788", "site_lbl": "Cys788", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26063830", "evidence": [ { "id": "rs3398920766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398920766" } ] } ] }, { "uniprot_canonical_ac": "P16092-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Arg80", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related/fibroblast growth factor receptor.", "chr_id": "8", "chr_pos": "26045671", "evidence": [ { "id": "rs3388959161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388959161" } ] } ] } ], "record_id": "P16092-1" }, { "uniprot_canonical_ac": "Q3UMF0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1273, "chemical_mass": 137382.0, "gene_names": "Cobll1;1810047P18Rik;Cobll1;Coblr1;D430044D16Rik;Kiaa0977", "protein_name": "Cordon-bleu protein-like 1", "disease": [], "molecular_function": [ { "name": "actin monomer binding", "id": "GO:0003785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003785", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UMF0-1", "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": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q3UMF0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UMF0" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "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": "Q3UMF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "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" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "718", "end_pos": "718", "site_lbl": "Ser718", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 718, "start_aa": "Ser", "end_pos": 718, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser718", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q3UMF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "857", "end_pos": "857", "site_lbl": "Thr857", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 857, "start_aa": "Thr", "end_pos": 857, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr857", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q3UMF0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UMF0" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "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" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "860", "end_pos": "860", "site_lbl": "Ser860", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 860, "start_aa": "Ser", "end_pos": 860, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser860", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q3UMF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "868", "end_pos": "868", "site_lbl": "Thr868", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 868, "start_aa": "Thr", "end_pos": 868, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr868", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q3UMF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "869", "end_pos": "869", "site_lbl": "Ser869", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 869, "start_aa": "Ser", "end_pos": 869, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser869", "evidence": [ { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "Q3UMF0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UMF0" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "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": "Q3UMF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UMF0" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "1028", "end_pos": "1028", "site_lbl": "Ser1028", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "1092", "end_pos": "1092", "site_lbl": "Ser1092", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "1214", "end_pos": "1214", "site_lbl": "Ser1214", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "1215", "end_pos": "1215", "site_lbl": "Ser1215", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "1266", "end_pos": "1266", "site_lbl": "Ser1266", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Thr183", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Ser248", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Ser266", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Ser300", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "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": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Thr304", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "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": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Ser317", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Thr328", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Ser366", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Ser373", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "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": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "374", "end_pos": "374", "site_lbl": "Ser374", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Ser384", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Ser396", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "518", "end_pos": "518", "site_lbl": "Ser518", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Ser521", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Ser541", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "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": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Ser546", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "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": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "551", "end_pos": "551", "site_lbl": "Ser551", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "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": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" }, { "database": "iPTMnet", "id": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "554", "end_pos": "554", "site_lbl": "Ser554", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Ser645", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "666", "end_pos": "666", "site_lbl": "Ser666", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "770", "end_pos": "770", "site_lbl": "Ser770", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "896", "end_pos": "896", "site_lbl": "Ser896", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "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": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "897", "end_pos": "897", "site_lbl": "Ser897", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "993", "end_pos": "993", "site_lbl": "Ser993", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UMF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMF0" } ] } ] }, { "uniprot_canonical_ac": "Q3UMF0-1", "start_pos": "999", "end_pos": "999", "site_lbl": "Ser999", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMF0", "url": "https://www.uniprot.org/uniprotkb/Q3UMF0" } ] } ] } ], "record_id": "Q3UMF0-1" }, { "uniprot_canonical_ac": "A0A571BEN1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1139, "chemical_mass": 128025.0, "gene_names": "Mybpc1", "protein_name": "Myosin-binding protein C, slow-type", "disease": [ { "disease_id": "DOID:0050646", "name": "distal arthrogryposis", "description": "A muscle tissue disease characterized by congenital joint contractures of hand and feet.", "url": "https://disease-ontology.org/term/DOID:0050646", "evidence": [ { "id": "0050646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050646" } ], "weight": 0.0 }, { "disease_id": "DOID:0060654", "name": "lethal congenital contracture syndrome 4", "description": "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23.", "url": "https://disease-ontology.org/term/DOID:0060654", "evidence": [ { "id": "0060654", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060654" } ], "weight": 0.0 }, { "disease_id": "DOID:0081337", "name": "congenital myopathy", "description": "A myopathy that is characterized by hypotonia and weakness, usually present from birth.", "url": "https://disease-ontology.org/term/DOID:0081337", "evidence": [ { "id": "0081337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081337" } ], "weight": 0.0 }, { "disease_id": "DOID:0081348", "name": "congenital myopathy 16", "description": "A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs.", "url": "https://disease-ontology.org/term/DOID:0081348", "evidence": [ { "id": "0081348", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081348" } ], "weight": 0.0 }, { "disease_id": "DOID:0111598", "name": "distal arthrogryposis type 1B", "description": "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2.", "url": "https://disease-ontology.org/term/DOID:0111598", "evidence": [ { "id": "0111598", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111598" } ], "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 } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" }, { "name": "myosin binding", "id": "GO:0017022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017022", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" }, { "name": "structural constituent of muscle", "id": "GO:0008307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008307", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" } ], "cellular_component": [ { "name": "myosin filament", "id": "GO:0032982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032982", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" }, { "name": "M band", "id": "GO:0031430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031430", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEN1", "url": "https://www.uniprot.org/uniprotkb/A0A571BEN1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A571BEN1-1" }, { "uniprot_canonical_ac": "P35922-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 614, "chemical_mass": 68890.0, "gene_names": "Fmr1;FMRP;Fmr-1;Fmr1", "protein_name": "Fragile X messenger ribonucleoprotein 1", "disease": [ { "disease_id": "DOID:0050879", "name": "fragile X-associated tremor/ataxia syndrome", "description": "A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.", "url": "https://disease-ontology.org/term/DOID:0050879", "evidence": [ { "id": "0050879", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050879" } ], "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: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:0060475", "name": "myoclonic-atonic epilepsy", "description": "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.", "url": "https://disease-ontology.org/term/DOID:0060475", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ], "weight": 0.0 }, { "disease_id": "DOID:0080857", "name": "primary ovarian insufficiency 1", "description": "A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28).", "url": "https://disease-ontology.org/term/DOID:0080857", "evidence": [ { "id": "0080857", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080857" } ], "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: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: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: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": "negative regulation of synaptic vesicle exocytosis", "id": "GO:2000301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000301", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "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": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of miRNA-mediated gene silencing", "id": "GO:0060965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060965", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "excitatory chemical synaptic transmission", "id": "GO:0098976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098976", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "evoked excitatory postsynaptic potential", "id": "GO:0098817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098817", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "mRNA export from nucleus", "id": "GO:0006406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006406", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "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": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "regulation of mRNA stability", "id": "GO:0043488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043488", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of long-term synaptic depression", "id": "GO:1900453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900453", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "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": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "regulation of neurotransmitter secretion", "id": "GO:0046928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046928", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "dendritic spine development", "id": "GO:0060996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060996", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "transmission of nerve impulse", "id": "GO:0019226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019226", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of receptor internalization", "id": "GO:0002092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002092", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "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": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "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": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "regulation of filopodium assembly", "id": "GO:0051489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051489", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "regulation of dendritic spine development", "id": "GO:0060998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060998", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of receptor internalization", "id": "GO:0002091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002091", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "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": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "locomotory exploration behavior", "id": "GO:0035641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035641", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "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": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "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": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of proteasomal protein catabolic process", "id": "GO:1901800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901800", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission", "id": "GO:0050806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050806", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "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": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of cytoplasmic translation", "id": "GO:2000766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000766", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "negative regulation of protein processing", "id": "GO:0010955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010955", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "glutamate receptor signaling pathway", "id": "GO:0007215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007215", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "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": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "regulation of neuronal action potential", "id": "GO:0098908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098908", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "positive regulation of intracellular transport of viral material", "id": "GO:1901254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901254", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "regulation of translation at postsynapse, modulating synaptic transmission", "id": "GO:0099578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099578", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "intracellular glutamate homeostasis", "id": "GO:0090461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090461", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "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": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "membraneless organelle assembly", "id": "GO:0140694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140694", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "response to interleukin-17", "id": "GO:0097396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097396", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "inhibitory chemical synaptic transmission", "id": "GO:0098977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098977", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "regulation of developmental process", "id": "GO:0050793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050793", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "regulation of long-term synaptic depression", "id": "GO:1900452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900452", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "regulation of proteolysis", "id": "GO:0030162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030162", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated gene silencing", "id": "GO:0031047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031047", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "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": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "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": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "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": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "growth cone filopodium", "id": "GO:1990812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990812", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "chromosome, centromeric region", "id": "GO:0000775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000775", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "filopodium tip", "id": "GO:0032433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032433", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "dendritic spine neck", "id": "GO:0044326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044326", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "dendritic spine head", "id": "GO:0044327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044327", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "spine apparatus", "id": "GO:0097444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097444", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "chromocenter", "id": "GO:0010369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010369", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "excitatory synapse", "id": "GO:0060076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060076", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "neuronal ribonucleoprotein granule", "id": "GO:0071598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071598", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "glial cell projection", "id": "GO:0097386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097386", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "dendritic filopodium", "id": "GO:1902737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902737", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "proximal dendrite", "id": "GO:1990635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990635", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "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": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "presynaptic cytosol", "id": "GO:0099523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099523", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "postsynaptic cytosol", "id": "GO:0099524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099524", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "translation repressor complex", "id": "GO:1903502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903502", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "SMN complex", "id": "GO:0032797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032797", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" } ], "molecular_function": [ { "name": "sequence-specific mRNA binding", "id": "GO:1990825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990825", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "translation repressor activity", "id": "GO:0030371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030371", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "ribosome binding", "id": "GO:0043022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043022", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "dynein complex binding", "id": "GO:0070840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070840", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "miRNA binding", "id": "GO:0035198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035198", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "G-quadruplex RNA binding", "id": "GO:0002151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002151", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "RNA 7-methylguanosine cap binding", "id": "GO:0000340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000340", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "siRNA binding", "id": "GO:0035197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035197", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "translation regulator activity", "id": "GO:0045182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045182", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "RNA strand annealing activity", "id": "GO:0033592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033592", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "mRNA 5'-UTR binding", "id": "GO:0048027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048027", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "poly(U) RNA binding", "id": "GO:0008266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008266", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "poly(G) binding", "id": "GO:0034046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034046", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "RNA stem-loop binding", "id": "GO:0035613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035613", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "translation initiation factor binding", "id": "GO:0031369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031369", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "N6-methyladenosine-containing RNA reader activity", "id": "GO:1990247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990247", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "histone H3 reader activity", "id": "GO:0140006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140006", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" }, { "name": "poly(A) binding", "id": "GO:0008143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008143", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P35922-1", "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": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "P35922", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35922" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P35922", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P35922" } ] } ] }, { "uniprot_canonical_ac": "P35922-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Asn348", "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": "VGPNSSEEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 348, "start_aa": "Asn", "end_pos": 348, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn348", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "P35922-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Ser336", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ] } ] }, { "uniprot_canonical_ac": "P35922-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Ser337", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ] } ] }, { "uniprot_canonical_ac": "P35922-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Ser349", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ] } ] }, { "uniprot_canonical_ac": "P35922-1", "start_pos": "350", "end_pos": "350", "site_lbl": "Ser350", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ] } ] }, { "uniprot_canonical_ac": "P35922-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Ser369", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ] } ] }, { "uniprot_canonical_ac": "P35922-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Thr462", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P35922", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35922" } ] } ] }, { "uniprot_canonical_ac": "P35922-1", "start_pos": "499", "end_pos": "499", "site_lbl": "Ser499", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" }, { "database": "iPTMnet", "id": "P35922", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35922" }, { "database": "PubMed", "id": "27957526", "url": "https://glygen.org/publication/PubMed/27957526" }, { "database": "PubMed", "id": "14570712", "url": "https://glygen.org/publication/PubMed/14570712" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" }, { "database": "PubMed", "id": "14570712", "url": "https://glygen.org/publication/PubMed/14570712" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Leads to phosphorylation on other serine residues.", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" }, { "database": "PubMed", "id": "14570712", "url": "https://glygen.org/publication/PubMed/14570712" } ] } ] }, { "uniprot_canonical_ac": "P35922-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Thr501", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ] } ] }, { "uniprot_canonical_ac": "P35922-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Ser503", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ] } ] }, { "uniprot_canonical_ac": "P35922-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Ser510", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ] } ] }, { "uniprot_canonical_ac": "P35922-1", "start_pos": "513", "end_pos": "513", "site_lbl": "Ser513", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ] } ] }, { "uniprot_canonical_ac": "P35922-1", "start_pos": "517", "end_pos": "517", "site_lbl": "Thr517", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ] } ] }, { "uniprot_canonical_ac": "P35922-1", "start_pos": "572", "end_pos": "572", "site_lbl": "Thr572", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" } ] } ] }, { "uniprot_canonical_ac": "P35922-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Ser602", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35922", "url": "https://www.uniprot.org/uniprotkb/P35922" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P35922", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35922" } ] } ] } ], "record_id": "P35922-1" }, { "uniprot_canonical_ac": "D3Z0K6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3Z0K6", "url": "https://www.uniprot.org/uniprotkb/D3Z0K6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 821, "chemical_mass": 91746.0, "gene_names": "Rsbn1l;8430412F05Rik;C330002G24Rik;Rsbn1l", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "D3Z0K6", "url": "https://www.uniprot.org/uniprotkb/D3Z0K6" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D3Z0K6", "url": "https://www.uniprot.org/uniprotkb/D3Z0K6" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein demethylase activity", "id": "GO:0140457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140457", "evidence": [ { "database": "UniProtKB", "id": "D3Z0K6", "url": "https://www.uniprot.org/uniprotkb/D3Z0K6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D3Z0K6-1", "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": "D3Z0K6-1", "start_pos": "404", "end_pos": "404", "site_lbl": "Pro404", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "5", "chr_pos": "21124591", "evidence": [ { "id": "rs3388717980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388717980" } ] } ] } ], "record_id": "D3Z0K6-1" }, { "uniprot_canonical_ac": "P0C0A3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 200, "chemical_mass": 23416.0, "gene_names": "Chmp6;2400004G01Rik;Chmp6", "protein_name": "Charged multivesicular body protein 6", "disease": [], "cellular_component": [ { "name": "ESCRT III complex", "id": "GO:0000815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000815", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "kinetochore microtubule", "id": "GO:0005828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005828", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "nuclear pore", "id": "GO:0005643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005643", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "multivesicular body membrane", "id": "GO:0032585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032585", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "amphisome membrane", "id": "GO:1904930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904930", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" } ], "biological_process": [ { "name": "plasma membrane repair", "id": "GO:0001778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001778", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "nuclear membrane reassembly", "id": "GO:0031468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031468", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "multivesicular body assembly", "id": "GO:0036258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036258", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "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": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "multivesicular body-lysosome fusion", "id": "GO:0061763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061763", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "multivesicular body sorting pathway", "id": "GO:0071985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071985", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "autophagosome maturation", "id": "GO:0097352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "vesicle budding from membrane", "id": "GO:0006900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006900", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "mitotic metaphase chromosome alignment", "id": "GO:0007080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007080", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "late endosome to lysosome transport", "id": "GO:1902774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902774", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "regulation of mitotic spindle assembly", "id": "GO:1901673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901673", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "nucleus organization", "id": "GO:0006997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006997", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "regulation of protein catabolic process", "id": "GO:0042176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042176", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "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": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "membrane fission", "id": "GO:0090148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090148", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "late endosome to vacuole transport via multivesicular body sorting pathway", "id": "GO:0032511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032511", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "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": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "viral budding from plasma membrane", "id": "GO:0046761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046761", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "midbody abscission", "id": "GO:0061952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061952", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "vesicle fusion with vacuole", "id": "GO:0051469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051469", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" }, { "name": "vacuolar transport", "id": "GO:0007034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007034", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "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": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P0C0A3-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Ser119", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P0C0A3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P0C0A3" } ] } ] }, { "uniprot_canonical_ac": "P0C0A3-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Thr130", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P0C0A3", "url": "https://www.uniprot.org/uniprotkb/P0C0A3" } ] } ] } ], "record_id": "P0C0A3-1" }, { "uniprot_canonical_ac": "Q5U4H9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5U4H9", "url": "https://www.uniprot.org/uniprotkb/Q5U4H9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 625, "chemical_mass": 70381.0, "gene_names": "Ncoa4;ARA70;NCoA-4;Ncoa4;Rfg", "protein_name": "Nuclear receptor coactivator 4", "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: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: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: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 } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q5U4H9", "url": "https://www.uniprot.org/uniprotkb/Q5U4H9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q5U4H9", "url": "https://www.uniprot.org/uniprotkb/Q5U4H9" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q5U4H9", "url": "https://www.uniprot.org/uniprotkb/Q5U4H9" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q5U4H9", "url": "https://www.uniprot.org/uniprotkb/Q5U4H9" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "Q5U4H9", "url": "https://www.uniprot.org/uniprotkb/Q5U4H9" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q5U4H9", "url": "https://www.uniprot.org/uniprotkb/Q5U4H9" } ], "pmid": "" }, { "name": "autolysosome", "id": "GO:0044754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044754", "evidence": [ { "database": "UniProtKB", "id": "Q5U4H9", "url": "https://www.uniprot.org/uniprotkb/Q5U4H9" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "Q5U4H9", "url": "https://www.uniprot.org/uniprotkb/Q5U4H9" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "Q5U4H9", "url": "https://www.uniprot.org/uniprotkb/Q5U4H9" } ], "pmid": "" }, { "name": "protein targeting to lysosome", "id": "GO:0006622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006622", "evidence": [ { "database": "UniProtKB", "id": "Q5U4H9", "url": "https://www.uniprot.org/uniprotkb/Q5U4H9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5U4H9-1" }, { "uniprot_canonical_ac": "Q9QXT8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 256, "chemical_mass": 29463.0, "gene_names": "Kcnip3;4933407H12Rik;Csen;DREAM;Dream;KChIP3;Kchip3;Kcnip3", "protein_name": "Calsenilin", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "voltage-gated potassium channel complex", "id": "GO:0008076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008076", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "protein-DNA complex", "id": "GO:0032993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032993", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "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": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "potassium channel activity", "id": "GO:0005267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005267", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "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": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "potassium channel regulator activity", "id": "GO:0015459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015459", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "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": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" } ], "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": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "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": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "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": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "response to pain", "id": "GO:0048265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048265", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "behavioral response to pain", "id": "GO:0048266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048266", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" }, { "name": "response to magnesium ion", "id": "GO:0032026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032026", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QXT8-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Ser60", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXT8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXT8" } ] } ] }, { "uniprot_canonical_ac": "Q9QXT8-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Ser63", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" } ] } ] }, { "uniprot_canonical_ac": "Q9QXT8-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Glu186", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Abolishes calcium-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" }, { "database": "PubMed", "id": "15746104", "url": "https://glygen.org/publication/PubMed/15746104" } ] } ] }, { "uniprot_canonical_ac": "Q9QXT8-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Glu234", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Abolishes calcium-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9QXT8", "url": "https://www.uniprot.org/uniprotkb/Q9QXT8" }, { "database": "PubMed", "id": "15746104", "url": "https://glygen.org/publication/PubMed/15746104" } ] } ] } ], "record_id": "Q9QXT8-1" }, { "uniprot_canonical_ac": "Q8BHR8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BHR8", "url": "https://www.uniprot.org/uniprotkb/Q8BHR8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 331, "chemical_mass": 37550.0, "gene_names": "Cstpp1;1110051M20Rik;Cstpp1", "protein_name": "Centriolar satellite-associated tubulin polyglutamylase complex regulator 1", "disease": [], "biological_process": [ { "name": "microtubule polymerization", "id": "GO:0046785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046785", "evidence": [ { "database": "UniProtKB", "id": "Q8BHR8", "url": "https://www.uniprot.org/uniprotkb/Q8BHR8" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q8BHR8", "url": "https://www.uniprot.org/uniprotkb/Q8BHR8" } ], "pmid": "" }, { "name": "regulation of protein complex stability", "id": "GO:0061635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061635", "evidence": [ { "database": "UniProtKB", "id": "Q8BHR8", "url": "https://www.uniprot.org/uniprotkb/Q8BHR8" } ], "pmid": "" }, { "name": "cilium disassembly", "id": "GO:0061523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061523", "evidence": [ { "database": "UniProtKB", "id": "Q8BHR8", "url": "https://www.uniprot.org/uniprotkb/Q8BHR8" } ], "pmid": "" } ], "cellular_component": [ { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q8BHR8", "url": "https://www.uniprot.org/uniprotkb/Q8BHR8" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q8BHR8", "url": "https://www.uniprot.org/uniprotkb/Q8BHR8" } ], "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": "Q8BHR8", "url": "https://www.uniprot.org/uniprotkb/Q8BHR8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BHR8-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Thr171", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 171, "start_aa": "Thr", "end_pos": 171, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr171", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BHR8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BHR8" }, { "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": "Q8BHR8-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Thr176", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 176, "start_aa": "Thr", "end_pos": 176, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr176", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BHR8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BHR8" }, { "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": 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" } ] } ] }, { "uniprot_canonical_ac": "Q8BHR8-1", "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": "Q8BHR8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BHR8" }, { "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": "Q8BHR8-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Ser289", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 289, "start_aa": "Ser", "end_pos": 289, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser289", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BHR8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BHR8" }, { "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": "Q8BHR8-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Ser319", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHR8", "url": "https://www.uniprot.org/uniprotkb/Q8BHR8" }, { "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": "Q8BHR8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BHR8" } ] } ] } ], "record_id": "Q8BHR8-1" }, { "uniprot_canonical_ac": "E9PVZ3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PVZ3", "url": "https://www.uniprot.org/uniprotkb/E9PVZ3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 520, "chemical_mass": 61382.0, "gene_names": "Gm57858;Ccdc144b;Gm57858", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PVZ3-1" }, { "uniprot_canonical_ac": "P23819-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 883, "chemical_mass": 98662.0, "gene_names": "Gria2;GluA2;Glur2", "protein_name": "Glutamate receptor 2", "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 }, { "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: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: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: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 }, { "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:9505", "name": "cannabis abuse", "description": "A substance abuse that involves the recurring use of cannabis despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:9505", "evidence": [ { "id": "9505", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9505" } ], "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 }, { "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 } ], "molecular_function": [ { "name": "glutamate-gated calcium ion channel activity", "id": "GO:0022849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022849", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "glutamate receptor binding", "id": "GO:0035254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035254", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "glutamate-gated receptor activity", "id": "GO:0004970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004970", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "extracellularly glutamate-gated ion channel activity", "id": "GO:0005234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005234", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "kainate selective glutamate receptor activity", "id": "GO:0015277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015277", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor binding", "id": "GO:0035255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035255", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "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": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "immunoglobulin binding", "id": "GO:0019865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019865", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "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": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "AMPA glutamate receptor activity", "id": "GO:0004971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004971", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "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": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "ligand-gated monoatomic cation channel activity", "id": "GO:0099094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099094", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "asymmetric synapse", "id": "GO:0032279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032279", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "AMPA glutamate receptor complex", "id": "GO:0032281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032281", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "dendritic spine neck", "id": "GO:0044326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044326", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "dendritic spine head", "id": "GO:0044327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044327", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "somatodendritic compartment", "id": "GO:0036477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036477", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "perisynaptic space", "id": "GO:0099544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099544", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "excitatory synapse", "id": "GO:0060076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060076", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "dendritic spine cytoplasm", "id": "GO:0061846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061846", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "spine synapse", "id": "GO:0106033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106033", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "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": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "cellular response to brain-derived neurotrophic factor stimulus", "id": "GO:1990416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990416", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor signaling pathway", "id": "GO:0035235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035235", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "protein tetramerization", "id": "GO:0051262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051262", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "positive regulation of excitatory postsynaptic potential", "id": "GO:2000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000463", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "regulation of receptor recycling", "id": "GO:0001919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001919", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "AMPA glutamate receptor clustering", "id": "GO:0097113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097113", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, glutamatergic", "id": "GO:0051966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051966", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission", "id": "GO:0050806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050806", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "conditioned place preference", "id": "GO:1990708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990708", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "cellular response to glycine", "id": "GO:1905430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905430", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity by chemical substance", "id": "GO:0051913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051913", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P23819-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Asn256", "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": 256, "start_aa": "Asn", "end_pos": 256, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn256", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2342", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2342" } ] }, { "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": 256, "start_aa": "Asn", "end_pos": 256, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn256", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2342", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2342" } ] }, { "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": 256, "start_aa": "Asn", "end_pos": 256, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn256", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2342", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2342" } ] }, { "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": 256, "start_aa": "Asn", "end_pos": 256, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn256", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2342", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2342" } ] }, { "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": 256, "start_aa": "Asn", "end_pos": 256, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn256", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2342", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2342" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IQFGGANVSGFQIVDYDDSLVSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 256, "start_aa": "Asn", "end_pos": 256, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn256", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 256, "start_aa": "Asn", "end_pos": 256, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn256", "evidence": [ { "id": "P23819", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P23819#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P23819-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Ser258", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 258, "start_aa": "Ser", "end_pos": 258, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser258", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P23819", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P23819" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "P23819-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Asn370", "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": "RINYTINIMELK", "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": "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": 370, "start_aa": "Asn", "end_pos": 370, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn370", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2342", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2342" } ] }, { "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": 370, "start_aa": "Asn", "end_pos": 370, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn370", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2342", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2342" } ] }, { "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": 370, "start_aa": "Asn", "end_pos": 370, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn370", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2342", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2342" } ] }, { "glytoucan_ac": "", "type": "N-linked", "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=7LDD&bu=0&command=select+.D:349;+center+selection;+zoom+selection" }, "start_pos": 370, "start_aa": "Asn", "end_pos": 370, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn370", "evidence": [ { "id": "P23819", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P23819#ptm_processing" }, { "id": "7LDD", "database": "PDB", "url": "https://www.rcsb.org/structure/7LDD" }, { "id": "7LDD", "database": "PDB", "url": "https://www.rcsb.org/structure/7LDD" }, { "id": "7LDE", "database": "PDB", "url": "https://www.rcsb.org/structure/7LDE" }, { "id": "7LDE", "database": "PDB", "url": "https://www.rcsb.org/structure/7LDE" }, { "id": "7LDD|D|349", "database": "", "url": "" }, { "id": "7LDD|B|349", "database": "", "url": "" }, { "id": "7LDE|D|349", "database": "", "url": "" }, { "id": "7LDE|B|349", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P23819-1", "start_pos": "400", "end_pos": "400", "site_lbl": "Thr400", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 400, "start_aa": "Thr", "end_pos": 400, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr400", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P23819", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P23819" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "P23819-1", "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": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P23819", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P23819" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "P23819-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Asn406", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G25541YH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 406, "start_aa": "Asn", "end_pos": 406, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn406", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2342", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2342" } ] }, { "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": 406, "start_aa": "Asn", "end_pos": 406, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn406", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2342", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2342" } ] }, { "glytoucan_ac": "G30270QQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MVVTLTELPSGNDTSGLENK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 406, "start_aa": "Asn", "end_pos": 406, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn406", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "glytoucan_ac": "G64130AC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 406, "start_aa": "Asn", "end_pos": 406, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn406", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2342", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2342" } ] }, { "glytoucan_ac": "G87015RU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 406, "start_aa": "Asn", "end_pos": 406, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn406", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2342", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2342" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 406, "start_aa": "Asn", "end_pos": 406, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn406", "evidence": [ { "id": "P23819", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P23819#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P23819-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Asn413", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41954QW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MVVTLTELPSGNDTSGLENK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 413, "start_aa": "Asn", "end_pos": 413, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn413", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 413, "start_aa": "Asn", "end_pos": 413, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn413", "evidence": [ { "id": "P23819", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P23819#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NKT->TKT).", "chr_id": "3", "chr_pos": "80616713", "evidence": [ { "id": "rs3393054339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393054339" } ] } ] }, { "uniprot_canonical_ac": "P23819-1", "start_pos": "683", "end_pos": "683", "site_lbl": "Ser683", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ] } ] }, { "uniprot_canonical_ac": "P23819-1", "start_pos": "717", "end_pos": "717", "site_lbl": "Ser717", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" } ] } ] }, { "uniprot_canonical_ac": "P23819-1", "start_pos": "860", "end_pos": "860", "site_lbl": "Ser860", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P23819", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23819" } ] } ] }, { "uniprot_canonical_ac": "P23819-1", "start_pos": "863", "end_pos": "863", "site_lbl": "Ser863", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P23819", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23819" } ] } ] }, { "uniprot_canonical_ac": "P23819-1", "start_pos": "876", "end_pos": "876", "site_lbl": "Tyr876", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" }, { "database": "PubMed", "id": "15240807", "url": "https://glygen.org/publication/PubMed/15240807" }, { "database": "iPTMnet", "id": "P23819", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23819" }, { "database": "PubMed", "id": "32948689", "url": "https://glygen.org/publication/PubMed/32948689" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Loss of tyrosine phosphorylation at the C-terminus. Reduced tyrosine phosphorylation; when associated with F-869 and F-873. Interferes with accumulation at synapses. Interferes with AMPA-mediated receptor internalization.", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" }, { "database": "PubMed", "id": "15240807", "url": "https://glygen.org/publication/PubMed/15240807" } ] } ] }, { "uniprot_canonical_ac": "P23819-1", "start_pos": "880", "end_pos": "880", "site_lbl": "Ser880", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" }, { "database": "PubMed", "id": "10501226", "url": "https://glygen.org/publication/PubMed/10501226" }, { "database": "iPTMnet", "id": "P23819", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23819" }, { "database": "PubMed", "id": "12805550", "url": "https://glygen.org/publication/PubMed/12805550" }, { "database": "PubMed", "id": "19746427", "url": "https://glygen.org/publication/PubMed/19746427" }, { "database": "PubMed", "id": "20696523", "url": "https://glygen.org/publication/PubMed/20696523" }, { "database": "PubMed", "id": "22325330", "url": "https://glygen.org/publication/PubMed/22325330" }, { "database": "PubMed", "id": "25547463", "url": "https://glygen.org/publication/PubMed/25547463" }, { "database": "PubMed", "id": "28063882", "url": "https://glygen.org/publication/PubMed/28063882" }, { "database": "PubMed", "id": "28835690", "url": "https://glygen.org/publication/PubMed/28835690" }, { "database": "PubMed", "id": "30699097", "url": "https://glygen.org/publication/PubMed/30699097" }, { "database": "PubMed", "id": "31847086", "url": "https://glygen.org/publication/PubMed/31847086" }, { "database": "PubMed", "id": "31969804", "url": "https://glygen.org/publication/PubMed/31969804" }, { "database": "PubMed", "id": "32948689", "url": "https://glygen.org/publication/PubMed/32948689" } ] } ] }, { "uniprot_canonical_ac": "P23819-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Thr415", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NKT->NKI).", "chr_id": "3", "chr_pos": "80616707", "evidence": [ { "id": "rs3393260005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393260005" } ] } ] }, { "uniprot_canonical_ac": "P23819-1", "start_pos": "869", "end_pos": "869", "site_lbl": "Tyr869", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No effect on tyrosine phosphorylation. Reduced tyrosine phosphorylation; when associated with F-873 and F-876.", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" }, { "database": "PubMed", "id": "15240807", "url": "https://glygen.org/publication/PubMed/15240807" } ] } ] }, { "uniprot_canonical_ac": "P23819-1", "start_pos": "873", "end_pos": "873", "site_lbl": "Tyr873", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No effect on tyrosine phosphorylation. Reduced tyrosine phosphorylation; when associated with F-869 and F-876.", "evidence": [ { "database": "UniProtKB", "id": "P23819", "url": "https://www.uniprot.org/uniprotkb/P23819" }, { "database": "PubMed", "id": "15240807", "url": "https://glygen.org/publication/PubMed/15240807" } ] } ] } ], "record_id": "P23819-1" }, { "uniprot_canonical_ac": "Q61098-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61098", "url": "https://www.uniprot.org/uniprotkb/Q61098" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 537, "chemical_mass": 61601.0, "gene_names": "Il18r1;Il18r1;Il18ralpha;Il1rrp", "protein_name": "Interleukin-18 receptor 1", "disease": [ { "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: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: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: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 } ], "biological_process": [ { "name": "T-helper 1 cell differentiation", "id": "GO:0045063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045063", "evidence": [ { "database": "UniProtKB", "id": "Q61098", "url": "https://www.uniprot.org/uniprotkb/Q61098" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q61098", "url": "https://www.uniprot.org/uniprotkb/Q61098" } ], "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": "Q61098", "url": "https://www.uniprot.org/uniprotkb/Q61098" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q61098", "url": "https://www.uniprot.org/uniprotkb/Q61098" } ], "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": "Q61098", "url": "https://www.uniprot.org/uniprotkb/Q61098" } ], "pmid": "" }, { "name": "interleukin-18-mediated signaling pathway", "id": "GO:0035655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035655", "evidence": [ { "database": "UniProtKB", "id": "Q61098", "url": "https://www.uniprot.org/uniprotkb/Q61098" } ], "pmid": "" }, { "name": "natural killer cell activation", "id": "GO:0030101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030101", "evidence": [ { "database": "UniProtKB", "id": "Q61098", "url": "https://www.uniprot.org/uniprotkb/Q61098" } ], "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": "Q61098", "url": "https://www.uniprot.org/uniprotkb/Q61098" } ], "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": "Q61098", "url": "https://www.uniprot.org/uniprotkb/Q61098" } ], "pmid": "" } ], "cellular_component": [ { "name": "interleukin-18 receptor complex", "id": "GO:0045092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045092", "evidence": [ { "database": "UniProtKB", "id": "Q61098", "url": "https://www.uniprot.org/uniprotkb/Q61098" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61098", "url": "https://www.uniprot.org/uniprotkb/Q61098" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q61098", "url": "https://www.uniprot.org/uniprotkb/Q61098" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q61098", "url": "https://www.uniprot.org/uniprotkb/Q61098" } ], "pmid": "" } ], "molecular_function": [ { "name": "interleukin-18 binding", "id": "GO:0042007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042007", "evidence": [ { "database": "UniProtKB", "id": "Q61098", "url": "https://www.uniprot.org/uniprotkb/Q61098" } ], "pmid": "" }, { "name": "NAD+ nucleosidase activity, cyclic ADP-ribose generating", "id": "GO:0061809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061809", "evidence": [ { "database": "UniProtKB", "id": "Q61098", "url": "https://www.uniprot.org/uniprotkb/Q61098" } ], "pmid": "" }, { "name": "interleukin-18 receptor activity", "id": "GO:0042008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042008", "evidence": [ { "database": "UniProtKB", "id": "Q61098", "url": "https://www.uniprot.org/uniprotkb/Q61098" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61098-1", "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": "Q61098", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61098#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61098-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Asn111", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q61098", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61098#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61098-1", "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": "Q61098", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61098#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61098-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Asn189", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q61098", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61098#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61098-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Asn194", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 194, "start_aa": "Asn", "end_pos": 194, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn194", "evidence": [ { "id": "Q61098", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61098#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61098-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Asn200", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 200, "start_aa": "Asn", "end_pos": 200, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn200", "evidence": [ { "id": "Q61098", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61098#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61098-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Asn233", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 233, "start_aa": "Asn", "end_pos": 233, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn233", "evidence": [ { "id": "Q61098", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61098#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61098-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Asn295", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 295, "start_aa": "Asn", "end_pos": 295, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "Q61098", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61098#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61098-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Ser441", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 441, "start_aa": "Ser", "end_pos": 441, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser441", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q61098", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61098" } ] } ] }, { "uniprot_canonical_ac": "Q61098-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Ser443", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 443, "start_aa": "Ser", "end_pos": 443, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser443", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q61098", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61098" } ] } ] }, { "uniprot_canonical_ac": "Q61098-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Asn50", "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": "NETATMR", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "Q61098", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61098#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61098-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Asn71", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 71, "start_aa": "Asn", "end_pos": 71, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn71", "evidence": [ { "id": "Q61098", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61098#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61098-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Thr191", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGT->NGA).", "chr_id": "1", "chr_pos": "40520181", "evidence": [ { "id": "rs1135126344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135126344" } ] } ] } ], "record_id": "Q61098-1" }, { "uniprot_canonical_ac": "Q8C6S9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C6S9", "url": "https://www.uniprot.org/uniprotkb/Q8C6S9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 3106, "chemical_mass": 353760.0, "gene_names": "Cfap54;4930485B16Rik;Cfap54;Gm872", "protein_name": "Cilia- and flagella-associated protein 54", "disease": [], "biological_process": [ { "name": "cilium movement involved in cell motility", "id": "GO:0060294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060294", "evidence": [ { "database": "UniProtKB", "id": "Q8C6S9", "url": "https://www.uniprot.org/uniprotkb/Q8C6S9" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q8C6S9", "url": "https://www.uniprot.org/uniprotkb/Q8C6S9" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q8C6S9", "url": "https://www.uniprot.org/uniprotkb/Q8C6S9" } ], "pmid": "" }, { "name": "motile cilium assembly", "id": "GO:0044458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044458", "evidence": [ { "database": "UniProtKB", "id": "Q8C6S9", "url": "https://www.uniprot.org/uniprotkb/Q8C6S9" } ], "pmid": "" }, { "name": "cerebrospinal fluid circulation", "id": "GO:0090660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090660", "evidence": [ { "database": "UniProtKB", "id": "Q8C6S9", "url": "https://www.uniprot.org/uniprotkb/Q8C6S9" } ], "pmid": "" }, { "name": "mucociliary clearance", "id": "GO:0120197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120197", "evidence": [ { "database": "UniProtKB", "id": "Q8C6S9", "url": "https://www.uniprot.org/uniprotkb/Q8C6S9" } ], "pmid": "" }, { "name": "sperm flagellum assembly", "id": "GO:0120316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120316", "evidence": [ { "database": "UniProtKB", "id": "Q8C6S9", "url": "https://www.uniprot.org/uniprotkb/Q8C6S9" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8C6S9", "url": "https://www.uniprot.org/uniprotkb/Q8C6S9" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q8C6S9", "url": "https://www.uniprot.org/uniprotkb/Q8C6S9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C6S9-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Thr29", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 29, "start_aa": "Thr", "end_pos": 29, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr29", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q8C6S9-1" }, { "uniprot_canonical_ac": "D3YUJ6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3YUJ6", "url": "https://www.uniprot.org/uniprotkb/D3YUJ6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 481, "chemical_mass": 55124.0, "gene_names": "Pramel56;Gm16513;LOC100038995;LOC100041712;LOC100862245;Pramel60", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D3YUJ6", "url": "https://www.uniprot.org/uniprotkb/D3YUJ6" } ], "pmid": "" }, { "name": "Cul2-RING ubiquitin ligase complex", "id": "GO:0031462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031462", "evidence": [ { "database": "UniProtKB", "id": "D3YUJ6", "url": "https://www.uniprot.org/uniprotkb/D3YUJ6" } ], "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": "D3YUJ6", "url": "https://www.uniprot.org/uniprotkb/D3YUJ6" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "D3YUJ6", "url": "https://www.uniprot.org/uniprotkb/D3YUJ6" } ], "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": "D3YUJ6", "url": "https://www.uniprot.org/uniprotkb/D3YUJ6" } ], "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": "D3YUJ6", "url": "https://www.uniprot.org/uniprotkb/D3YUJ6" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "D3YUJ6", "url": "https://www.uniprot.org/uniprotkb/D3YUJ6" } ], "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": "D3YUJ6", "url": "https://www.uniprot.org/uniprotkb/D3YUJ6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3YUJ6-1" }, { "uniprot_canonical_ac": "O70496-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70496", "url": "https://www.uniprot.org/uniprotkb/O70496" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 803, "chemical_mass": 88713.0, "gene_names": "Clcn7;ClC-7;Clc7;Clcn7;D17Wsu51e", "protein_name": "H(+)/Cl(-) exchange transporter 7", "disease": [ { "disease_id": "DOID:0110938", "name": "autosomal dominant osteopetrosis 2", "description": "An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13.", "url": "https://disease-ontology.org/term/DOID:0110938", "evidence": [ { "id": "0110938", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110938" } ], "weight": 0.0 }, { "disease_id": "DOID:0110944", "name": "autosomal recessive osteopetrosis 4", "description": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.", "url": "https://disease-ontology.org/term/DOID:0110944", "evidence": [ { "id": "0110944", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110944" } ], "weight": 0.0 }, { "disease_id": "DOID:13533", "name": "osteopetrosis", "description": "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.", "url": "https://disease-ontology.org/term/DOID:13533", "evidence": [ { "id": "13533", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13533" } ], "weight": 0.0 }, { "disease_id": "DOID:3211", "name": "lysosomal storage disease", "description": "An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.", "url": "https://disease-ontology.org/term/DOID:3211", "evidence": [ { "id": "3211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3211" } ], "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": "O70496", "url": "https://www.uniprot.org/uniprotkb/O70496" } ], "pmid": "" }, { "name": "chloride:proton antiporter activity", "id": "GO:0062158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062158", "evidence": [ { "database": "UniProtKB", "id": "O70496", "url": "https://www.uniprot.org/uniprotkb/O70496" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "O70496", "url": "https://www.uniprot.org/uniprotkb/O70496" } ], "pmid": "" } ], "cellular_component": [ { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "O70496", "url": "https://www.uniprot.org/uniprotkb/O70496" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "O70496", "url": "https://www.uniprot.org/uniprotkb/O70496" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O70496", "url": "https://www.uniprot.org/uniprotkb/O70496" } ], "pmid": "" } ], "biological_process": [ { "name": "response to pH", "id": "GO:0009268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009268", "evidence": [ { "database": "UniProtKB", "id": "O70496", "url": "https://www.uniprot.org/uniprotkb/O70496" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "O70496", "url": "https://www.uniprot.org/uniprotkb/O70496" } ], "pmid": "" }, { "name": "transepithelial chloride transport", "id": "GO:0030321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030321", "evidence": [ { "database": "UniProtKB", "id": "O70496", "url": "https://www.uniprot.org/uniprotkb/O70496" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O70496-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Asn113", "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": "INHTAFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 113, "start_aa": "Asn", "end_pos": 113, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn113", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "O70496-1", "start_pos": "799", "end_pos": "799", "site_lbl": "Ser799", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70496", "url": "https://www.uniprot.org/uniprotkb/O70496" } ] } ] }, { "uniprot_canonical_ac": "O70496-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Ser9", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70496", "url": "https://www.uniprot.org/uniprotkb/O70496" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "O70496", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70496" } ] } ] }, { "uniprot_canonical_ac": "O70496-1", "start_pos": "713", "end_pos": "713", "site_lbl": "Tyr713", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Increased cytoplasmic vacuole size. Knockin mice develop albinism and lysosomal-storage disease.", "evidence": [ { "database": "UniProtKB", "id": "O70496", "url": "https://www.uniprot.org/uniprotkb/O70496" }, { "database": "PubMed", "id": "31155284", "url": "https://glygen.org/publication/PubMed/31155284" } ] } ] } ], "record_id": "O70496-1" }, { "uniprot_canonical_ac": "Q8K5C0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 625, "chemical_mass": 71195.0, "gene_names": "Grhl2;0610015A08Rik;BOM;Bom;Grhl2;Tcfcp2l3;clft3", "protein_name": "Grainyhead-like protein 2 homolog", "disease": [ { "disease_id": "DOID:0050564", "name": "autosomal dominant nonsyndromic deafness", "description": "A nonsyndromic deafness characterized by an autosomal dominant inheritance mode.", "url": "https://disease-ontology.org/term/DOID:0050564", "evidence": [ { "id": "0050564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050564" } ], "weight": 0.0 }, { "disease_id": "DOID:0080669", "name": "posterior polymorphous corneal dystrophy 4", "description": "A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22.", "url": "https://disease-ontology.org/term/DOID:0080669", "evidence": [ { "id": "0080669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080669" } ], "weight": 0.0 }, { "disease_id": "DOID:0110557", "name": "autosomal dominant nonsyndromic deafness 28", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22.", "url": "https://disease-ontology.org/term/DOID:0110557", "evidence": [ { "id": "0110557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110557" } ], "weight": 0.0 } ], "biological_process": [ { "name": "epithelial cell morphogenesis involved in placental branching", "id": "GO:0060672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060672", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "epithelium migration", "id": "GO:0090132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090132", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "cardiac ventricle morphogenesis", "id": "GO:0003208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003208", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "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": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "cell junction assembly", "id": "GO:0034329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034329", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "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": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "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": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "face development", "id": "GO:0060324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "bicellular tight junction assembly", "id": "GO:0070830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070830", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "epithelial cell morphogenesis", "id": "GO:0003382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003382", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "lung epithelial cell differentiation", "id": "GO:0060487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060487", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "respiratory tube development", "id": "GO:0030323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030323", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "lung lobe morphogenesis", "id": "GO:0060463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060463", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "anterior neural tube closure", "id": "GO:0061713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061713", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "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": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "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": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "intronic transcription regulatory region sequence-specific DNA binding", "id": "GO:0001161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001161", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity", "id": "GO:0001216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001216", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8K5C0", "url": "https://www.uniprot.org/uniprotkb/Q8K5C0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K5C0-1", "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": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8K5C0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K5C0" }, { "id": "Q8K5C0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K5C0" } ] } ] }, { "uniprot_canonical_ac": "Q8K5C0-1", "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": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8K5C0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8K5C0" }, { "id": "Q8K5C0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K5C0" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "15", "chr_pos": "37279717", "evidence": [ { "id": "rs3389309549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389309549" } ] } ] }, { "uniprot_canonical_ac": "Q8K5C0-1", "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" } ] } ] } ], "record_id": "Q8K5C0-1" }, { "uniprot_canonical_ac": "Q6NZR5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6NZR5", "url": "https://www.uniprot.org/uniprotkb/Q6NZR5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1244, "chemical_mass": 137524.0, "gene_names": "Skic2;4930534J06Rik;Ddx13;SKI;Ski2w;Ski2;Skic2;Skiv2l", "protein_name": "Superkiller complex protein 2", "disease": [ { "disease_id": "DOID:0111416", "name": "trichohepatoenteric syndrome 2", "description": "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33.", "url": "https://disease-ontology.org/term/DOID:0111416", "evidence": [ { "id": "0111416", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111416" } ], "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": "Q6NZR5", "url": "https://www.uniprot.org/uniprotkb/Q6NZR5" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay", "id": "GO:0070478", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070478", "evidence": [ { "database": "UniProtKB", "id": "Q6NZR5", "url": "https://www.uniprot.org/uniprotkb/Q6NZR5" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, non-stop decay", "id": "GO:0070481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070481", "evidence": [ { "database": "UniProtKB", "id": "Q6NZR5", "url": "https://www.uniprot.org/uniprotkb/Q6NZR5" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process", "id": "GO:0000956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000956", "evidence": [ { "database": "UniProtKB", "id": "Q6NZR5", "url": "https://www.uniprot.org/uniprotkb/Q6NZR5" } ], "pmid": "" } ], "cellular_component": [ { "name": "Ski complex", "id": "GO:0055087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055087", "evidence": [ { "database": "UniProtKB", "id": "Q6NZR5", "url": "https://www.uniprot.org/uniprotkb/Q6NZR5" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6NZR5", "url": "https://www.uniprot.org/uniprotkb/Q6NZR5" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q6NZR5", "url": "https://www.uniprot.org/uniprotkb/Q6NZR5" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q6NZR5", "url": "https://www.uniprot.org/uniprotkb/Q6NZR5" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q6NZR5", "url": "https://www.uniprot.org/uniprotkb/Q6NZR5" } ], "pmid": "" }, { "name": "3'-5' RNA helicase activity", "id": "GO:0034458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034458", "evidence": [ { "database": "UniProtKB", "id": "Q6NZR5", "url": "https://www.uniprot.org/uniprotkb/Q6NZR5" } ], "pmid": "" }, { "name": "RNA helicase activity", "id": "GO:0003724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003724", "evidence": [ { "database": "UniProtKB", "id": "Q6NZR5", "url": "https://www.uniprot.org/uniprotkb/Q6NZR5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6NZR5-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Ser242", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NZR5", "url": "https://www.uniprot.org/uniprotkb/Q6NZR5" } ] } ] }, { "uniprot_canonical_ac": "Q6NZR5-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Ser253", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NZR5", "url": "https://www.uniprot.org/uniprotkb/Q6NZR5" } ] } ] } ], "record_id": "Q6NZR5-1" }, { "uniprot_canonical_ac": "Q922M5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 438, "chemical_mass": 50248.0, "gene_names": "Cdca7l;Cdca7l;JPO2", "protein_name": "Cell division cycle-associated 7-like protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ], "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": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q922M5-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Asn399", "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": "GICNCSYCRR", "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": "Q922M5-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Ser101", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ] } ] }, { "uniprot_canonical_ac": "Q922M5-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Ser104", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ] } ] }, { "uniprot_canonical_ac": "Q922M5-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Ser135", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ] } ] }, { "uniprot_canonical_ac": "Q922M5-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Ser136", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ] } ] }, { "uniprot_canonical_ac": "Q922M5-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Ser159", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ] } ] }, { "uniprot_canonical_ac": "Q922M5-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Ser183", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q922M5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q922M5" } ] } ] }, { "uniprot_canonical_ac": "Q922M5-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Ser185", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q922M5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q922M5" } ] } ] }, { "uniprot_canonical_ac": "Q922M5-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ser21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ] } ] }, { "uniprot_canonical_ac": "Q922M5-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Ser249", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ] } ] }, { "uniprot_canonical_ac": "Q922M5-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Thr75", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ] } ] }, { "uniprot_canonical_ac": "Q922M5-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ser77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ] } ] }, { "uniprot_canonical_ac": "Q922M5-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Thr86", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922M5", "url": "https://www.uniprot.org/uniprotkb/Q922M5" } ] } ] }, { "uniprot_canonical_ac": "Q922M5-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Ala325", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIA->NIT).", "chr_id": "12", "chr_pos": "117838503", "evidence": [ { "id": "rs3389268070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268070" } ] } ] } ], "record_id": "Q922M5-1" }, { "uniprot_canonical_ac": "Q91ZT5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 766, "chemical_mass": 86541.0, "gene_names": "Fgd4;9030023J02Rik;9330209B17Rik;Fgd4;Frabp;ZFYVE6", "protein_name": "FYVE, RhoGEF and PH domain-containing protein 4", "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 } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ], "pmid": "" }, { "name": "filopodium assembly", "id": "GO:0046847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046847", "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ], "pmid": "" }, { "name": "lamellipodium assembly", "id": "GO:0030032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030032", "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ], "pmid": "" }, { "name": "microspike assembly", "id": "GO:0030035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030035", "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ], "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": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91ZT5-1", "start_pos": "702", "end_pos": "702", "site_lbl": "Ser702", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" } ] } ] }, { "uniprot_canonical_ac": "Q91ZT5-1", "start_pos": "716", "end_pos": "716", "site_lbl": "Ser716", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91ZT5", "url": "https://www.uniprot.org/uniprotkb/Q91ZT5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91ZT5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91ZT5" } ] } ] } ], "record_id": "Q91ZT5-1" }, { "uniprot_canonical_ac": "Q61490-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 583, "chemical_mass": 65092.0, "gene_names": "Alcam;Alcam;BEN;CD166;DM-GRASP;MuSC;SC1", "protein_name": "CD166 antigen", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "pmid": "" }, { "name": "T cell receptor complex", "id": "GO:0042101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042101", "evidence": [ { "database": "UniProtKB", "id": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "pmid": "" }, { "name": "immunological synapse", "id": "GO:0001772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001772", "evidence": [ { "database": "UniProtKB", "id": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "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": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "pmid": "" }, { "name": "neuron projection extension", "id": "GO:1990138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990138", "evidence": [ { "database": "UniProtKB", "id": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "pmid": "" }, { "name": "retinal ganglion cell axon guidance", "id": "GO:0031290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031290", "evidence": [ { "database": "UniProtKB", "id": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "pmid": "" }, { "name": "axon extension involved in axon guidance", "id": "GO:0048846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048846", "evidence": [ { "database": "UniProtKB", "id": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q61490", "url": "https://www.uniprot.org/uniprotkb/Q61490" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61490-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Asn167", "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": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "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": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "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": 167, "start_aa": "Asn", "end_pos": 167, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn167", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_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": "Q61490", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61490#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "Q61490-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Asn265", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G46450MZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EGDNITLQCLGNGNPPPEEFMFYLPGQPEGIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 265, "start_aa": "Asn", "end_pos": 265, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn265", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 265, "start_aa": "Asn", "end_pos": 265, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn265", "evidence": [ { "id": "Q61490", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61490#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61490-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Asn306", "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": "RNATGDYK", "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": "Q61490", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61490#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61490-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Asn361", "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": "NATVVWMK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 361, "start_aa": "Asn", "end_pos": 361, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn361", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 361, "start_aa": "Asn", "end_pos": 361, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn361", "evidence": [ { "id": "Q61490", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61490#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61490-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Asn457", "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": "PAIHWTITGSGSVINQTEESPYINGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 457, "start_aa": "Asn", "end_pos": 457, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn457", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 457, "start_aa": "Asn", "end_pos": 457, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn457", "evidence": [ { "id": "Q61490", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61490#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "Q61490-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Asn480", "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": "IIISPEENVTLTCTAENQLER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "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": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "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": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "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": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "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": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "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": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "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": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "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": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "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": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "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": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "glytoucan_ac": "G69303VP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YYSKIIISPEENVTLTCTAENQLERTVNSLNVSANENR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "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": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "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": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "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": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "Q61490", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61490#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61490-1", "start_pos": "499", "end_pos": "499", "site_lbl": "Asn499", "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": 499, "start_aa": "Asn", "end_pos": 499, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn499", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "glytoucan_ac": "G41840AI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TVNSLNVSANENR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 499, "start_aa": "Asn", "end_pos": 499, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn499", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "glytoucan_ac": "G59334JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TVNSLNVSAISIPEHDEADDISDENR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 499, "start_aa": "Asn", "end_pos": 499, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn499", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 499, "start_aa": "Asn", "end_pos": 499, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn499", "evidence": [ { "id": "Q61490", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61490#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "Q61490-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Asn95", "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": 95, "start_aa": "Asn", "end_pos": 95, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn95", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2196", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ] }, { "glytoucan_ac": "G23719VF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LSLSENYTLSIANAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 95, "start_aa": "Asn", "end_pos": 95, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn95", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 95, "start_aa": "Asn", "end_pos": 95, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn95", "evidence": [ { "id": "Q61490", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61490#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] } ], "record_id": "Q61490-1" }, { "uniprot_canonical_ac": "G3X943-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "G3X943", "url": "https://www.uniprot.org/uniprotkb/G3X943" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 309, "chemical_mass": 32236.0, "gene_names": "Slc39a2;F730005G13Rik;Gm1789;Gm289;Slc39a2;ZIP-2;Zip2;hZIP2", "protein_name": "Zinc transporter ZIP2", "disease": [], "molecular_function": [ { "name": "zinc ion transmembrane transporter activity", "id": "GO:0005385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005385", "evidence": [ { "database": "UniProtKB", "id": "G3X943", "url": "https://www.uniprot.org/uniprotkb/G3X943" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "G3X943", "url": "https://www.uniprot.org/uniprotkb/G3X943" } ], "pmid": "" }, { "name": "metal ion transmembrane transporter activity", "id": "GO:0046873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046873", "evidence": [ { "database": "UniProtKB", "id": "G3X943", "url": "https://www.uniprot.org/uniprotkb/G3X943" } ], "pmid": "" } ], "biological_process": [ { "name": "zinc ion transmembrane transport", "id": "GO:0071577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071577", "evidence": [ { "database": "UniProtKB", "id": "G3X943", "url": "https://www.uniprot.org/uniprotkb/G3X943" } ], "pmid": "" }, { "name": "zinc ion transport", "id": "GO:0006829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006829", "evidence": [ { "database": "UniProtKB", "id": "G3X943", "url": "https://www.uniprot.org/uniprotkb/G3X943" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "G3X943", "url": "https://www.uniprot.org/uniprotkb/G3X943" } ], "pmid": "" }, { "name": "cadmium ion transmembrane transport", "id": "GO:0070574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070574", "evidence": [ { "database": "UniProtKB", "id": "G3X943", "url": "https://www.uniprot.org/uniprotkb/G3X943" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "G3X943", "url": "https://www.uniprot.org/uniprotkb/G3X943" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "G3X943", "url": "https://www.uniprot.org/uniprotkb/G3X943" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "G3X943", "url": "https://www.uniprot.org/uniprotkb/G3X943" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3X943-1" }, { "uniprot_canonical_ac": "Q9WVE0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 198, "chemical_mass": 24031.0, "gene_names": "Aicda;Aicda;Aid;Arp2", "protein_name": "Single-stranded DNA cytosine deaminase", "disease": [ { "disease_id": "DOID:0050211", "name": "swine influenza", "description": "An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus (Gammainfluenzavirus influenzae), or has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae) including subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea.", "url": "https://disease-ontology.org/term/DOID:0050211", "evidence": [ { "id": "0050211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050211" } ], "weight": 0.0 }, { "disease_id": "DOID:0060758", "name": "immunodeficiency with hyper-IgM type 2", "description": "A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.", "url": "https://disease-ontology.org/term/DOID:0060758", "evidence": [ { "id": "0060758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060758" } ], "weight": 0.0 }, { "disease_id": "DOID:2938", "name": "Epstein-Barr virus infectious disease", "description": "A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4 (Lymphocryptovirus humangamma4).", "url": "https://disease-ontology.org/term/DOID:2938", "evidence": [ { "id": "2938", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2938" } ], "weight": 0.0 }, { "disease_id": "DOID:2959", "name": "hyperimmunoglobulin syndrome", "description": "A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others.", "url": "https://disease-ontology.org/term/DOID:2959", "evidence": [ { "id": "2959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2959" } ], "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: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": "regulation of nuclear cell cycle DNA replication", "id": "GO:0033262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033262", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "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": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "cytidine to uridine editing", "id": "GO:0016554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016554", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "DNA cytosine deamination", "id": "GO:0070383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070383", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "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": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "somatic diversification of immunoglobulins", "id": "GO:0016445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016445", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "somatic hypermutation of immunoglobulin genes", "id": "GO:0016446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016446", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "isotype switching", "id": "GO:0045190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045190", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "cytidine deaminase activity", "id": "GO:0004126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004126", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WVE0-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Thr140", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q9WVE0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVE0" }, { "database": "PubMed", "id": "18838546", "url": "https://glygen.org/publication/PubMed/18838546" } ] } ] }, { "uniprot_canonical_ac": "Q9WVE0-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Thr27", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" } ] } ] }, { "uniprot_canonical_ac": "Q9WVE0-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Ser38", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" }, { "database": "iPTMnet", "id": "Q9WVE0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVE0" }, { "database": "PubMed", "id": "18838546", "url": "https://glygen.org/publication/PubMed/18838546" }, { "database": "PubMed", "id": "19196992", "url": "https://glygen.org/publication/PubMed/19196992" }, { "database": "PubMed", "id": "19442251", "url": "https://glygen.org/publication/PubMed/19442251" } ] } ] }, { "uniprot_canonical_ac": "Q9WVE0-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Asp143", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "10-fold decrease in MCM3AP-binding affinity, loss of relocalization to the nucleus in the presence of MCM3AP, decreased deamination activity to about 33% of the wild-type protein.", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" }, { "database": "PubMed", "id": "20507984", "url": "https://glygen.org/publication/PubMed/20507984" } ] } ] }, { "uniprot_canonical_ac": "Q9WVE0-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Phe15", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Severely decreased cytidine deaminase activity. Loss of mutagenic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" }, { "database": "PubMed", "id": "23803409", "url": "https://glygen.org/publication/PubMed/23803409" } ] } ] }, { "uniprot_canonical_ac": "Q9WVE0-1", "start_pos": "56", "end_pos": "56", "site_lbl": "His56", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Loss of the cytidine deaminase activity; when associated with Q-58.", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" }, { "database": "PubMed", "id": "12692563", "url": "https://glygen.org/publication/PubMed/12692563" } ] } ] }, { "uniprot_canonical_ac": "Q9WVE0-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Glu58", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Loss of the cytidine deaminase activity; when associated with R-56.", "evidence": [ { "database": "UniProtKB", "id": "Q9WVE0", "url": "https://www.uniprot.org/uniprotkb/Q9WVE0" }, { "database": "PubMed", "id": "12692563", "url": "https://glygen.org/publication/PubMed/12692563" } ] } ] } ], "record_id": "Q9WVE0-1" }, { "uniprot_canonical_ac": "P98086-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 245, "chemical_mass": 25974.0, "gene_names": "C1qa;Adic;C1qa;C1q", "protein_name": "Complement C1q subcomponent subunit A", "disease": [ { "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: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: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: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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "extrinsic component of presynaptic membrane", "id": "GO:0098888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098888", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "extrinsic component of postsynaptic membrane", "id": "GO:0098890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098890", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "complement component C1 complex", "id": "GO:0005602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005602", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "complement component C1q complex", "id": "GO:0062167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062167", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "symbiont cell surface", "id": "GO:0106139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106139", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" } ], "biological_process": [ { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "neuron remodeling", "id": "GO:0016322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016322", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "astrocyte activation", "id": "GO:0048143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048143", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "synapse pruning", "id": "GO:0098883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098883", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "complement activation, classical pathway", "id": "GO:0006958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "complement-mediated synapse pruning", "id": "GO:0150062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150062", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "vertebrate eye-specific patterning", "id": "GO:0150064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150064", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "IgM binding", "id": "GO:0001791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001791", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" }, { "name": "IgG binding", "id": "GO:0019864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019864", "evidence": [ { "database": "UniProtKB", "id": "P98086", "url": "https://www.uniprot.org/uniprotkb/P98086" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P98086-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Lys100", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-galactosylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine;O-galactosylation", "icn3d_view": {}, "start_pos": 100, "start_aa": "Lys", "end_pos": 100, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys100", "evidence": [ { "id": "P98086", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P98086#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P98086-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Asn146", "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": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2223", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2223" } ] }, { "glytoucan_ac": "G11870QZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2223", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2223" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2223", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2223" } ] }, { "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": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2223", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2223" } ] }, { "glytoucan_ac": "G40574BA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VLTNQESPYQNHTGR", "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": "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": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2223", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2223" } ] }, { "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": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2223", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2223" } ] }, { "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": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2223", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2223" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_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": "P98086", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P98086#ptm_processing" }, { "id": "16944957", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16944957" } ] } ] }, { "uniprot_canonical_ac": "P98086-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Lys48", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-galactosylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine;O-galactosylation", "icn3d_view": {}, "start_pos": 48, "start_aa": "Lys", "end_pos": 48, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys48", "evidence": [ { "id": "P98086", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P98086#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P98086-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Lys67", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-galactosylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine;O-galactosylation", "icn3d_view": {}, "start_pos": 67, "start_aa": "Lys", "end_pos": 67, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys67", "evidence": [ { "id": "P98086", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P98086#ptm_processing" } ] } ] } ], "record_id": "P98086-1" }, { "uniprot_canonical_ac": "O88874-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 554, "chemical_mass": 61363.0, "gene_names": "Ccnk", "protein_name": "Cyclin-K", "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": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "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": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "pmid": "" }, { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "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": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "pmid": "" }, { "name": "negative regulation of stem cell differentiation", "id": "GO:2000737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000737", "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "pmid": "" }, { "name": "host-mediated suppression of viral genome replication", "id": "GO:0044828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044828", "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription, elongation", "id": "GO:0032786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032786", "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "pmid": "" }, { "name": "cyclin K-CDK12 complex", "id": "GO:0002944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002944", "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "pmid": "" }, { "name": "cyclin K-CDK13 complex", "id": "GO:0002945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002945", "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "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": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "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": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "pmid": "" }, { "name": "RNA polymerase II CTD heptapeptide repeat kinase activity", "id": "GO:0008353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008353", "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase activator activity", "id": "GO:0061575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061575", "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88874-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Thr282", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 282, "start_aa": "Thr", "end_pos": 282, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr282", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O88874-1", "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": "O88874-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Ser325", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88874", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88874" } ] } ] }, { "uniprot_canonical_ac": "O88874-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Ser329", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88874", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88874" } ] } ] }, { "uniprot_canonical_ac": "O88874-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Ser341", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88874", "url": "https://www.uniprot.org/uniprotkb/O88874" }, { "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": "O88874", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88874" } ] } ] } ], "record_id": "O88874-1" }, { "uniprot_canonical_ac": "A2ARI4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 951, "chemical_mass": 104150.0, "gene_names": "Lgr4;9130225G07;A330106J01Rik;A930009A08Rik;Gpr48;Lgr4", "protein_name": "Leucine-rich repeat-containing G protein-coupled receptor 4", "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 } ], "molecular_function": [ { "name": "protein-hormone receptor activity", "id": "GO:0016500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016500", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "Roundabout binding", "id": "GO:0048495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048495", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "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": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "bone remodeling", "id": "GO:0046849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046849", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "positive regulation of branching involved in ureteric bud morphogenesis", "id": "GO:0090190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090190", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "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": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "negative chemotaxis", "id": "GO:0050919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050919", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "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": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "male genitalia development", "id": "GO:0030539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030539", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "negative regulation of cytokine production", "id": "GO:0001818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001818", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "epithelial cell proliferation", "id": "GO:0050673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050673", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "metanephric glomerulus development", "id": "GO:0072224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072224", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "tube morphogenesis", "id": "GO:0035239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035239", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "intestinal stem cell homeostasis", "id": "GO:0036335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036335", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "epithelial cell proliferation involved in renal tubule morphogenesis", "id": "GO:2001013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001013", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "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": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" }, { "name": "metanephric nephron tubule morphogenesis", "id": "GO:0072282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072282", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2ARI4-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Asn188", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 188, "start_aa": "Asn", "end_pos": 188, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn188", "evidence": [ { "id": "A2ARI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARI4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2ARI4-1", "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": "A2ARI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARI4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2ARI4-1", "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": "A2ARI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARI4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2ARI4-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Asn505", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "A2ARI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARI4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2ARI4-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Asn68", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 68, "start_aa": "Asn", "end_pos": 68, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn68", "evidence": [ { "id": "A2ARI4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A2ARI4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "A2ARI4-1", "start_pos": "920", "end_pos": "920", "site_lbl": "Ser920", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" } ] } ] }, { "uniprot_canonical_ac": "A2ARI4-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Ile189", "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": "109827063", "evidence": [ { "id": "rs3388578671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388578671" } ] } ] }, { "uniprot_canonical_ac": "A2ARI4-1", "start_pos": "655", "end_pos": "655", "site_lbl": "Lys655", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGK->NGT).", "chr_id": "2", "chr_pos": "109841980", "evidence": [ { "id": "rs3388571039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388571039" } ] } ] }, { "uniprot_canonical_ac": "A2ARI4-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Thr755", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Confers constitutive activity.", "evidence": [ { "database": "UniProtKB", "id": "A2ARI4", "url": "https://www.uniprot.org/uniprotkb/A2ARI4" }, { "database": "PubMed", "id": "23589304", "url": "https://glygen.org/publication/PubMed/23589304" } ] } ] } ], "record_id": "A2ARI4-1" }, { "uniprot_canonical_ac": "P97333-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 923, "chemical_mass": 103000.0, "gene_names": "Nrp1;C530029I03;NP-1;NPN-1;Npn1;Nrp1;Nrp", "protein_name": "Neuropilin-1", "disease": [ { "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: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: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: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: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: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: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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "neurofilament", "id": "GO:0005883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005883", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "sorting endosome", "id": "GO:0097443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097443", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" } ], "biological_process": [ { "name": "sympathetic neuron projection extension", "id": "GO:0097490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097490", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "sympathetic neuron projection guidance", "id": "GO:0097491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097491", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "cell migration involved in coronary vasculogenesis", "id": "GO:0060980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060980", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "motor neuron migration", "id": "GO:0097475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097475", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "neuropilin signaling pathway", "id": "GO:0038189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038189", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "endothelial cell migration", "id": "GO:0043542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043542", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor signaling pathway", "id": "GO:0048010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048010", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "axonal fasciculation", "id": "GO:0007413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007413", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "sympathetic nervous system development", "id": "GO:0048485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048485", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "positive chemotaxis", "id": "GO:0050918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050918", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "coronary artery morphogenesis", "id": "GO:0060982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060982", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "sympathetic ganglion development", "id": "GO:0061549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061549", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "substrate-dependent cell migration, cell extension", "id": "GO:0006930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006930", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "endothelial cell chemotaxis", "id": "GO:0035767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035767", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "axonogenesis involved in innervation", "id": "GO:0060385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060385", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "regulation of vascular endothelial growth factor receptor signaling pathway", "id": "GO:0030947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030947", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "sensory neuron axon guidance", "id": "GO:0097374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097374", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "regulation of axon extension involved in axon guidance", "id": "GO:0048841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048841", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "hepatocyte growth factor receptor signaling pathway", "id": "GO:0048012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048012", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "retinal ganglion cell axon guidance", "id": "GO:0031290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031290", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "trigeminal nerve structural organization", "id": "GO:0021637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021637", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "vestibulocochlear nerve structural organization", "id": "GO:0021649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021649", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "branchiomotor neuron axon guidance", "id": "GO:0021785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021785", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "ventral trunk neural crest cell migration", "id": "GO:0036486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036486", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "VEGF-activated neuropilin signaling pathway", "id": "GO:0038190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038190", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "negative regulation of axon extension involved in axon guidance", "id": "GO:0048843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048843", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "dichotomous subdivision of terminal units involved in salivary gland branching", "id": "GO:0060666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060666", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "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": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "renal artery morphogenesis", "id": "GO:0061441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061441", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "trigeminal ganglion development", "id": "GO:0061551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061551", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "neural crest cell migration involved in autonomic nervous system development", "id": "GO:1901166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901166", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "protein localization to early endosome", "id": "GO:1902946", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902946", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "facioacoustic ganglion development", "id": "GO:1903375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903375", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "dorsal root ganglion morphogenesis", "id": "GO:1904835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904835", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "otic placode development", "id": "GO:1905040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905040", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "negative regulation of axon extension", "id": "GO:0030517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030517", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "positive regulation of axon extension involved in axon guidance", "id": "GO:0048842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048842", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "commissural neuron axon guidance", "id": "GO:0071679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071679", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "trigeminal nerve morphogenesis", "id": "GO:0021636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021636", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "axon extension involved in axon guidance", "id": "GO:0048846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048846", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "facial nerve structural organization", "id": "GO:0021612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021612", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "positive regulation of platelet-derived growth factor receptor signaling pathway", "id": "GO:0010641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010641", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "postsynapse organization", "id": "GO:0099173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099173", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "basal dendrite arborization", "id": "GO:0150020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150020", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "basal dendrite development", "id": "GO:0150018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150018", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "growth factor binding", "id": "GO:0019838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019838", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "semaphorin receptor activity", "id": "GO:0017154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017154", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor activity", "id": "GO:0005021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005021", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" }, { "name": "vascular endothelial growth factor binding", "id": "GO:0038085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038085", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97333-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Asn150", "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": 150, "start_aa": "Asn", "end_pos": 150, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn150", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2556", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2556" } ] }, { "glytoucan_ac": "G96091TT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "RGPECSQNYTAPTGVIK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 150, "start_aa": "Asn", "end_pos": 150, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn150", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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=10RI&bu=0&command=select+.E:150;+center+selection;+zoom+selection" }, "start_pos": 150, "start_aa": "Asn", "end_pos": 150, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn150", "evidence": [ { "id": "P97333", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97333#ptm_processing" }, { "id": "10RI", "database": "PDB", "url": "https://www.rcsb.org/structure/10RI" }, { "id": "10RI", "database": "PDB", "url": "https://www.rcsb.org/structure/10RI" }, { "id": "10RJ", "database": "PDB", "url": "https://www.rcsb.org/structure/10RJ" }, { "id": "10RJ", "database": "PDB", "url": "https://www.rcsb.org/structure/10RJ" }, { "id": "10RK", "database": "PDB", "url": "https://www.rcsb.org/structure/10RK" }, { "id": "10RK", "database": "PDB", "url": "https://www.rcsb.org/structure/10RK" }, { "id": "10RI|E|150", "database": "", "url": "" }, { "id": "10RI|F|150", "database": "", "url": "" }, { "id": "10RJ|E|150", "database": "", "url": "" }, { "id": "10RJ|L|150", "database": "", "url": "" }, { "id": "10RJ|K|150", "database": "", "url": "" }, { "id": "10RJ|F|150", "database": "", "url": "" }, { "id": "10RK|F|150", "database": "", "url": "" }, { "id": "10RK|K|150", "database": "", "url": "" }, { "id": "10RK|L|150", "database": "", "url": "" }, { "id": "10RK|E|150", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Asn261", "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": "EGFSANYSVLQSSISEDFK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 261, "start_aa": "Asn", "end_pos": 261, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn261", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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=10RJ&bu=0&command=select+.E:261;+center+selection;+zoom+selection" }, "start_pos": 261, "start_aa": "Asn", "end_pos": 261, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn261", "evidence": [ { "id": "P97333", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97333#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" }, { "id": "10RJ", "database": "PDB", "url": "https://www.rcsb.org/structure/10RJ" }, { "id": "10RJ", "database": "PDB", "url": "https://www.rcsb.org/structure/10RJ" }, { "id": "10RK", "database": "PDB", "url": "https://www.rcsb.org/structure/10RK" }, { "id": "10RK", "database": "PDB", "url": "https://www.rcsb.org/structure/10RK" }, { "id": "4GZ9", "database": "PDB", "url": "https://www.rcsb.org/structure/4GZ9" }, { "id": "4GZ9", "database": "PDB", "url": "https://www.rcsb.org/structure/4GZ9" }, { "id": "10RJ|E|261", "database": "", "url": "" }, { "id": "10RJ|F|261", "database": "", "url": "" }, { "id": "10RK|F|261", "database": "", "url": "" }, { "id": "10RK|E|261", "database": "", "url": "" }, { "id": "4GZ9|A|261", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Asn300", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41429FA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CMEALGMESGEIHSDQITASSQYGTNWSVER", "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": "P97333", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97333#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Asn522", "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": "IAYSNNGSDWK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 522, "start_aa": "Asn", "end_pos": 522, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn522", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 522, "start_aa": "Asn", "end_pos": 522, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn522", "evidence": [ { "id": "P97333", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97333#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "589", "end_pos": "589", "site_lbl": "Thr589", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 589, "start_aa": "Thr", "end_pos": 589, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr589", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "593", "end_pos": "593", "site_lbl": "Thr593", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 593, "start_aa": "Thr", "end_pos": 593, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr593", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Ser612", "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": 612, "start_aa": "Ser", "end_pos": 612, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser612", "evidence": [ { "id": "P97333", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97333#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "829", "end_pos": "829", "site_lbl": "Ser829", "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": 829, "start_aa": "Ser", "end_pos": 829, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser829", "evidence": [ { "id": "P97333", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97333#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "842", "end_pos": "842", "site_lbl": "Asn842", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 842, "start_aa": "Asn", "end_pos": 842, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn842", "evidence": [ { "id": "P97333", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97333#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "894", "end_pos": "894", "site_lbl": "Ser894", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97333", "url": "https://www.uniprot.org/uniprotkb/P97333" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97333", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97333" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Lys102", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (KFC->NFC); glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129145251", "evidence": [ { "id": "rs3389009821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389009821" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Trp315", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NGW->NGC); glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129160820", "evidence": [ { "id": "rs3389023216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389023216" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Pro117", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129145294", "evidence": [ { "id": "rs3389027126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389027126" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Ala179", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129152328", "evidence": [ { "id": "rs3399664376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399664376" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Pro180", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129152330", "evidence": [ { "id": "rs3399442627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399442627" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ala21", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129086101", "evidence": [ { "id": "rs3388997137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388997137" } ] }, { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129086102", "evidence": [ { "id": "rs3389023206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389023206" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Gly241", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129158435", "evidence": [ { "id": "rs3388997155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388997155" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Phe247", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129158453", "evidence": [ { "id": "rs3389027154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389027154" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Ile253", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129158471", "evidence": [ { "id": "rs3389029296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389029296" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Ser283", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129160722", "evidence": [ { "id": "rs13474420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13474420" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Asn313", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129160812", "evidence": [ { "id": "rs3389027125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389027125" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Gly331", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129184348", "evidence": [ { "id": "rs3399735396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399735396" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Leu332", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129184351", "evidence": [ { "id": "rs3399799368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399799368" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Val339", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129184371", "evidence": [ { "id": "rs3389015780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389015780" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Thr341", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129184378", "evidence": [ { "id": "rs32166907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32166907" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Lys347", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129184396", "evidence": [ { "id": "rs3389019995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389019995" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Lys373", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129184473", "evidence": [ { "id": "rs3389020846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020846" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Asp389", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129187121", "evidence": [ { "id": "rs3388971552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388971552" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "390", "end_pos": "390", "site_lbl": "Val390", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129187123", "evidence": [ { "id": "rs3388971519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388971519" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Thr40", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129089745", "evidence": [ { "id": "rs3389009818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389009818" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Ile415", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129187198", "evidence": [ { "id": "rs3389002410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002410" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Cys424", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129187226", "evidence": [ { "id": "rs3389023360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389023360" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "426", "end_pos": "426", "site_lbl": "Ile426", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129187232", "evidence": [ { "id": "rs3389009823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389009823" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Thr466", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129194941", "evidence": [ { "id": "rs3400008932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400008932" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "470", "end_pos": "470", "site_lbl": "Gly470", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129194954", "evidence": [ { "id": "rs3399736660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399736660" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Ala472", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129194959", "evidence": [ { "id": "rs3399836108", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399836108" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Pro477", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129194975", "evidence": [ { "id": "rs212448468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212448468" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Thr481", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129194987", "evidence": [ { "id": "rs232880389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232880389" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "517", "end_pos": "517", "site_lbl": "Ile517", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129195095", "evidence": [ { "id": "rs3389020824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020824" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "529", "end_pos": "529", "site_lbl": "Ile529", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129195130", "evidence": [ { "id": "rs234203076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234203076" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Phe561", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129202698", "evidence": [ { "id": "rs3389002424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002424" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "583", "end_pos": "583", "site_lbl": "Cys583", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129202764", "evidence": [ { "id": "rs3389016333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389016333" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ile58", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129089798", "evidence": [ { "id": "rs3389015800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389015800" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "590", "end_pos": "590", "site_lbl": "Ala590", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129207374", "evidence": [ { "id": "rs3388971486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388971486" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Asn596", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129207394", "evidence": [ { "id": "rs3389009760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389009760" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "610", "end_pos": "610", "site_lbl": "Cys610", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129207435", "evidence": [ { "id": "rs3388971501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388971501" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "825", "end_pos": "825", "site_lbl": "Asp825", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129227145", "evidence": [ { "id": "rs3547048827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547048827" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "873", "end_pos": "873", "site_lbl": "Ala873", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129229141", "evidence": [ { "id": "rs3389027141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389027141" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "875", "end_pos": "875", "site_lbl": "Cys875", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129229148", "evidence": [ { "id": "rs3389002413", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002413" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "884", "end_pos": "884", "site_lbl": "Trp884", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129229173_129229174insA", "evidence": [ { "id": "rs3399443684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399443684" } ] } ] }, { "uniprot_canonical_ac": "P97333-1", "start_pos": "886", "end_pos": "886", "site_lbl": "Asn886", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129229181", "evidence": [ { "id": "rs3389002457", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002457" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "8", "chr_pos": "129229180", "evidence": [ { "id": "rs3399800495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399800495" } ] } ] } ], "record_id": "P97333-1" }, { "uniprot_canonical_ac": "Q6PDS3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 724, "chemical_mass": 79606.0, "gene_names": "Sarm1;A830091I15Rik;Kiaa0524;MyD885;Sarm1;Sarm", "protein_name": "NAD(+) hydrolase SARM1", "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 }, { "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": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "protein localization to mitochondrion", "id": "GO:0070585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070585", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "regulation of dendrite morphogenesis", "id": "GO:0048814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048814", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "nervous system process", "id": "GO:0050877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050877", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "positive regulation of programmed cell death", "id": "GO:0043068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043068", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "negative regulation of MyD88-independent toll-like receptor signaling pathway", "id": "GO:0034128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034128", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "modification of postsynaptic structure", "id": "GO:0099010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099010", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "regulation of synapse pruning", "id": "GO:1905806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905806", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "extrinsic component of synaptic membrane", "id": "GO:0099243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099243", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "NAD+ nucleosidase activity", "id": "GO:0003953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003953", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "NADP+ nucleosidase activity", "id": "GO:0050135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050135", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" }, { "name": "NAD+ nucleosidase activity, cyclic ADP-ribose generating", "id": "GO:0061809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061809", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PDS3-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Thr240", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 240, "start_aa": "Thr", "end_pos": 240, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr240", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q6PDS3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PDS3" }, { "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": "Q6PDS3-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Asn383", "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": "LVSYSTNGTTSALAKR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 383, "start_aa": "Asn", "end_pos": 383, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn383", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q6PDS3-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Ser548", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PDS3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PDS3" } ] } ] }, { "uniprot_canonical_ac": "Q6PDS3-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Ser558", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PDS3", "url": "https://www.uniprot.org/uniprotkb/Q6PDS3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PDS3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PDS3" } ] } ] } ], "record_id": "Q6PDS3-1" }, { "uniprot_canonical_ac": "E9Q7T7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q7T7", "url": "https://www.uniprot.org/uniprotkb/E9Q7T7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 748, "chemical_mass": 81361.0, "gene_names": "Chadl;Chadl;D930017K21Rik;SLRR4B", "protein_name": "Chondroadherin-like protein", "disease": [], "cellular_component": [ { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "E9Q7T7", "url": "https://www.uniprot.org/uniprotkb/E9Q7T7" } ], "pmid": "" }, { "name": "gel phase of interstitial matrix", "id": "GO:0140150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140150", "evidence": [ { "database": "UniProtKB", "id": "E9Q7T7", "url": "https://www.uniprot.org/uniprotkb/E9Q7T7" } ], "pmid": "" } ], "molecular_function": [ { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "E9Q7T7", "url": "https://www.uniprot.org/uniprotkb/E9Q7T7" } ], "pmid": "" }, { "name": "collagen fibril binding", "id": "GO:0098633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098633", "evidence": [ { "database": "UniProtKB", "id": "E9Q7T7", "url": "https://www.uniprot.org/uniprotkb/E9Q7T7" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "E9Q7T7", "url": "https://www.uniprot.org/uniprotkb/E9Q7T7" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of chondrocyte differentiation", "id": "GO:0032331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032331", "evidence": [ { "database": "UniProtKB", "id": "E9Q7T7", "url": "https://www.uniprot.org/uniprotkb/E9Q7T7" } ], "pmid": "" }, { "name": "negative regulation of collagen fibril organization", "id": "GO:1904027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904027", "evidence": [ { "database": "UniProtKB", "id": "E9Q7T7", "url": "https://www.uniprot.org/uniprotkb/E9Q7T7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q7T7-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Asn424", "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": "GFPNDTQLLDLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 424, "start_aa": "Asn", "end_pos": 424, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "E9Q7T7-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Asn51", "weight": 0.0, "glycosylation": [ { "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": 51, "start_aa": "Asn", "end_pos": 51, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn51", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2212", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2212" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HQNLTEVPNTIPELTQR", "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": "E9Q7T7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q7T7#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->KLT).", "chr_id": "15", "chr_pos": "81580081", "evidence": [ { "id": "rs3406292205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406292205" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "15", "chr_pos": "81580082", "evidence": [ { "id": "rs3406317268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406317268" } ] } ] }, { "uniprot_canonical_ac": "E9Q7T7-1", "start_pos": "625", "end_pos": "625", "site_lbl": "Asn625", "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": "SLQQLFLNSSDLEQISPR", "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": "E9Q7T7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9Q7T7#ptm_processing" } ] } ] } ], "record_id": "E9Q7T7-1" }, { "uniprot_canonical_ac": "P61922-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 500, "chemical_mass": 56452.0, "gene_names": "Abat;9630038C02Rik;Abat;Gabaat;Gabat;Gm9851;I54;Laibat", "protein_name": "4-aminobutyrate aminotransferase, mitochondrial", "disease": [ { "disease_id": "DOID:0050562", "name": "West syndrome", "description": "An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.", "url": "https://disease-ontology.org/term/DOID:0050562", "evidence": [ { "id": "0050562", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050562" } ], "weight": 0.0 }, { "disease_id": "DOID:0060174", "name": "GABA aminotransferase deficiency", "description": "A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.", "url": "https://disease-ontology.org/term/DOID:0060174", "evidence": [ { "id": "0060174", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060174" } ], "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: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: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: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: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:2548", "name": "reflex epilepsy", "description": "A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity.", "url": "https://disease-ontology.org/term/DOID:2548", "evidence": [ { "id": "2548", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2548" } ], "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: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": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "4-aminobutyrate transaminase complex", "id": "GO:0032144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032144", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" } ], "biological_process": [ { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "exploration behavior", "id": "GO:0035640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035640", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "nervous system process", "id": "GO:0050877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050877", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "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": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "positive regulation of heat generation", "id": "GO:0031652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031652", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "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": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "response to iron ion", "id": "GO:0010039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010039", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid metabolic process", "id": "GO:0009448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009448", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "positive regulation of prolactin secretion", "id": "GO:1902722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902722", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "negative regulation of dopamine secretion", "id": "GO:0033602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033602", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid biosynthetic process", "id": "GO:0009449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009449", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid catabolic process", "id": "GO:0009450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009450", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "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": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "positive regulation of inhibitory postsynaptic potential", "id": "GO:0097151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097151", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "positive regulation of aspartate secretion", "id": "GO:1904450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904450", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "copulation", "id": "GO:0007620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007620", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" } ], "molecular_function": [ { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "iron-sulfur cluster binding", "id": "GO:0051536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051536", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "succinate-semialdehyde dehydrogenase binding", "id": "GO:0032145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032145", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "4-aminobutyrate:2-oxoglutarate transaminase activity", "id": "GO:0034386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034386", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "(S)-3-amino-2-methylpropionate transaminase activity", "id": "GO:0047298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047298", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" }, { "name": "transaminase activity", "id": "GO:0008483", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008483", "evidence": [ { "database": "UniProtKB", "id": "P61922", "url": "https://www.uniprot.org/uniprotkb/P61922" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P61922-1" }, { "uniprot_canonical_ac": "P17665-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P17665", "url": "https://www.uniprot.org/uniprotkb/P17665" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 63, "chemical_mass": 7333.0, "gene_names": "Cox7c;COXVIIc;Cox7c1;Cox7c", "protein_name": "Cytochrome c oxidase subunit 7C, mitochondrial", "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": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P17665", "url": "https://www.uniprot.org/uniprotkb/P17665" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P17665", "url": "https://www.uniprot.org/uniprotkb/P17665" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P17665", "url": "https://www.uniprot.org/uniprotkb/P17665" } ], "pmid": "" }, { "name": "respiratory chain complex IV", "id": "GO:0045277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045277", "evidence": [ { "database": "UniProtKB", "id": "P17665", "url": "https://www.uniprot.org/uniprotkb/P17665" } ], "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": "P17665", "url": "https://www.uniprot.org/uniprotkb/P17665" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P17665-1" }, { "uniprot_canonical_ac": "P19536-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P19536", "url": "https://www.uniprot.org/uniprotkb/P19536" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 128, "chemical_mass": 13813.0, "gene_names": "Cox5b", "protein_name": "Cytochrome c oxidase subunit 5B, 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:3762", "name": "cytochrome-c oxidase deficiency disease", "description": "A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.", "url": "https://disease-ontology.org/term/DOID:3762", "evidence": [ { "id": "3762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3762" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P19536", "url": "https://www.uniprot.org/uniprotkb/P19536" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P19536", "url": "https://www.uniprot.org/uniprotkb/P19536" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P19536", "url": "https://www.uniprot.org/uniprotkb/P19536" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P19536", "url": "https://www.uniprot.org/uniprotkb/P19536" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "P19536", "url": "https://www.uniprot.org/uniprotkb/P19536" } ], "pmid": "" }, { "name": "respiratory chain complex IV", "id": "GO:0045277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045277", "evidence": [ { "database": "UniProtKB", "id": "P19536", "url": "https://www.uniprot.org/uniprotkb/P19536" } ], "pmid": "" }, { "name": "mitochondrial envelope", "id": "GO:0005740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005740", "evidence": [ { "database": "UniProtKB", "id": "P19536", "url": "https://www.uniprot.org/uniprotkb/P19536" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P19536", "url": "https://www.uniprot.org/uniprotkb/P19536" } ], "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": "P19536", "url": "https://www.uniprot.org/uniprotkb/P19536" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P19536-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Thr27", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 27, "start_aa": "Thr", "end_pos": 27, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr27", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "P19536-1" }, { "uniprot_canonical_ac": "G3X942-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "G3X942", "url": "https://www.uniprot.org/uniprotkb/G3X942" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 604, "chemical_mass": 68707.0, "gene_names": "Galnt9;GalNAc-T9;Galnt9", "protein_name": "Polypeptide N-acetylgalactosaminyltransferase", "disease": [], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "G3X942", "url": "https://www.uniprot.org/uniprotkb/G3X942" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "G3X942", "url": "https://www.uniprot.org/uniprotkb/G3X942" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "G3X942", "url": "https://www.uniprot.org/uniprotkb/G3X942" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "G3X942", "url": "https://www.uniprot.org/uniprotkb/G3X942" } ], "pmid": "" }, { "name": "polypeptide N-acetylgalactosaminyltransferase activity", "id": "GO:0004653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004653", "evidence": [ { "database": "UniProtKB", "id": "G3X942", "url": "https://www.uniprot.org/uniprotkb/G3X942" } ], "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": "G3X942", "url": "https://www.uniprot.org/uniprotkb/G3X942" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "G3X942-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Asn461", "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": "IYNNTLTYGEVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 461, "start_aa": "Asn", "end_pos": 461, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn461", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IYNNTLTYGEVR", "relation": "attached", "comment": "reported site N94 is on non-canonical isoform A0A0G2JGP7-1 which maps to canonical isoform site G3X942-1:461", "icn3d_view": {}, "start_pos": 461, "start_aa": "Asn", "end_pos": 461, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn461", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "G3X942-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Ala101", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "110725366", "evidence": [ { "id": "rs3388775689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388775689" } ] } ] }, { "uniprot_canonical_ac": "G3X942-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Asp107", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "110725384", "evidence": [ { "id": "rs3395328035", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395328035" } ] } ] }, { "uniprot_canonical_ac": "G3X942-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Ser281", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "110744008", "evidence": [ { "id": "rs3388779079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388779079" } ] } ] }, { "uniprot_canonical_ac": "G3X942-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Pro323", "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": "110750451", "evidence": [ { "id": "rs3388760137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388760137" } ] } ] }, { "uniprot_canonical_ac": "G3X942-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Asp333", "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": "110750481", "evidence": [ { "id": "rs3388776509", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388776509" } ] }, { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "110750482", "evidence": [ { "id": "rs3388764958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388764958" } ] } ] }, { "uniprot_canonical_ac": "G3X942-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Met347", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "110750523", "evidence": [ { "id": "rs3388770756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388770756" } ] } ] }, { "uniprot_canonical_ac": "G3X942-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Ile355", "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": "110750547", "evidence": [ { "id": "rs3388772596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388772596" } ] } ] }, { "uniprot_canonical_ac": "G3X942-1", "start_pos": "378", "end_pos": "378", "site_lbl": "His378", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "110761997", "evidence": [ { "id": "rs3388767552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767552" } ] } ] }, { "uniprot_canonical_ac": "G3X942-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Glu439", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "110763311", "evidence": [ { "id": "rs33684663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33684663" } ] } ] }, { "uniprot_canonical_ac": "G3X942-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Leu441", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "110763319", "evidence": [ { "id": "rs3388760135", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388760135" } ] } ] }, { "uniprot_canonical_ac": "G3X942-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Lys447", "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": "110763337", "evidence": [ { "id": "rs37247443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37247443" } ] } ] }, { "uniprot_canonical_ac": "G3X942-1", "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, glycosyltransferase.", "chr_id": "5", "chr_pos": "110767125", "evidence": [ { "id": "rs216561127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216561127" } ] } ] }, { "uniprot_canonical_ac": "G3X942-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Trp552", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "110767186", "evidence": [ { "id": "rs3388776446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388776446" } ] } ] }, { "uniprot_canonical_ac": "G3X942-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Glu72", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "5", "chr_pos": "110763311", "evidence": [ { "id": "rs33684663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33684663" } ] } ] } ], "record_id": "G3X942-1" }, { "uniprot_canonical_ac": "Q8BKT3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 769, "chemical_mass": 87442.0, "gene_names": "Gcfc2;A130099G21;GCF2;Gcfc2;Gcf;Tcf9", "protein_name": "Intron Large complex component GCFC2", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" } ], "pmid": "" }, { "name": "U2-type post-mRNA release spliceosomal complex", "id": "GO:0071008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071008", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" } ], "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": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" } ], "pmid": "" }, { "name": "spliceosomal complex assembly", "id": "GO:0000245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000245", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BKT3-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Ser118", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "iPTMnet", "id": "Q8BKT3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BKT3" } ] } ] }, { "uniprot_canonical_ac": "Q8BKT3-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Ser169", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" } ] } ] }, { "uniprot_canonical_ac": "Q8BKT3-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Ser16", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" } ] } ] }, { "uniprot_canonical_ac": "Q8BKT3-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Ser17", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" } ] } ] }, { "uniprot_canonical_ac": "Q8BKT3-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Ser19", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" } ] } ] }, { "uniprot_canonical_ac": "Q8BKT3-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" } ] } ] }, { "uniprot_canonical_ac": "Q8BKT3-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Ser206", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" } ] } ] }, { "uniprot_canonical_ac": "Q8BKT3-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Ser85", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" } ] } ] }, { "uniprot_canonical_ac": "Q8BKT3-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Thr86", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKT3", "url": "https://www.uniprot.org/uniprotkb/Q8BKT3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BKT3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BKT3" } ] } ] } ], "record_id": "Q8BKT3-1" }, { "uniprot_canonical_ac": "Q8BUR3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BUR3", "url": "https://www.uniprot.org/uniprotkb/Q8BUR3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 623, "chemical_mass": 68954.0, "gene_names": "Foxj3;C330039G02Rik;Fhd6;Foxj3;Kiaa1041", "protein_name": "Forkhead box protein J3", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BUR3", "url": "https://www.uniprot.org/uniprotkb/Q8BUR3" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8BUR3", "url": "https://www.uniprot.org/uniprotkb/Q8BUR3" } ], "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": "Q8BUR3", "url": "https://www.uniprot.org/uniprotkb/Q8BUR3" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q8BUR3", "url": "https://www.uniprot.org/uniprotkb/Q8BUR3" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q8BUR3", "url": "https://www.uniprot.org/uniprotkb/Q8BUR3" } ], "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": "Q8BUR3", "url": "https://www.uniprot.org/uniprotkb/Q8BUR3" } ], "pmid": "" }, { "name": "male meiosis I", "id": "GO:0007141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007141", "evidence": [ { "database": "UniProtKB", "id": "Q8BUR3", "url": "https://www.uniprot.org/uniprotkb/Q8BUR3" } ], "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": "Q8BUR3", "url": "https://www.uniprot.org/uniprotkb/Q8BUR3" } ], "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": "Q8BUR3", "url": "https://www.uniprot.org/uniprotkb/Q8BUR3" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q8BUR3", "url": "https://www.uniprot.org/uniprotkb/Q8BUR3" } ], "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": "Q8BUR3", "url": "https://www.uniprot.org/uniprotkb/Q8BUR3" } ], "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": "Q8BUR3", "url": "https://www.uniprot.org/uniprotkb/Q8BUR3" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q8BUR3", "url": "https://www.uniprot.org/uniprotkb/Q8BUR3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BUR3-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Ser223", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BUR3", "url": "https://www.uniprot.org/uniprotkb/Q8BUR3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BUR3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BUR3" } ] } ] }, { "uniprot_canonical_ac": "Q8BUR3-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Ser297", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BUR3", "url": "https://www.uniprot.org/uniprotkb/Q8BUR3" } ] } ] }, { "uniprot_canonical_ac": "Q8BUR3-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Ser490", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BUR3", "url": "https://www.uniprot.org/uniprotkb/Q8BUR3" } ] } ] } ], "record_id": "Q8BUR3-1" }, { "uniprot_canonical_ac": "F8VPZ9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "F8VPZ9", "url": "https://www.uniprot.org/uniprotkb/F8VPZ9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1578, "chemical_mass": 161354.0, "gene_names": "Bicra;Bicra;Gltscr1", "protein_name": "BRD4-interacting chromatin-remodeling complex-associated protein", "disease": [ { "disease_id": "DOID:0112370", "name": "Coffin-Siris syndrome 12", "description": "A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33.", "url": "https://disease-ontology.org/term/DOID:0112370", "evidence": [ { "id": "0112370", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112370" } ], "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": "F8VPZ9", "url": "https://www.uniprot.org/uniprotkb/F8VPZ9" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ9", "url": "https://www.uniprot.org/uniprotkb/F8VPZ9" } ], "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": "F8VPZ9", "url": "https://www.uniprot.org/uniprotkb/F8VPZ9" } ], "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": "F8VPZ9", "url": "https://www.uniprot.org/uniprotkb/F8VPZ9" } ], "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": "F8VPZ9", "url": "https://www.uniprot.org/uniprotkb/F8VPZ9" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ9", "url": "https://www.uniprot.org/uniprotkb/F8VPZ9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ9", "url": "https://www.uniprot.org/uniprotkb/F8VPZ9" } ], "pmid": "" }, { "name": "SWI/SNF complex", "id": "GO:0016514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016514", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ9", "url": "https://www.uniprot.org/uniprotkb/F8VPZ9" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ9", "url": "https://www.uniprot.org/uniprotkb/F8VPZ9" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription regulator activator activity", "id": "GO:0140537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140537", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ9", "url": "https://www.uniprot.org/uniprotkb/F8VPZ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "F8VPZ9-1", "start_pos": "1006", "end_pos": "1006", "site_lbl": "Thr1006", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1006, "start_aa": "Thr", "end_pos": 1006, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1006", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "F8VPZ9-1", "start_pos": "1019", "end_pos": "1019", "site_lbl": "Thr1019", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1019, "start_aa": "Thr", "end_pos": 1019, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1019", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "F8VPZ9-1", "start_pos": "1217", "end_pos": "1217", "site_lbl": "Ser1217", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1217, "start_aa": "Ser", "end_pos": 1217, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1217", "evidence": [ { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "F8VPZ9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=F8VPZ9" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "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": "F8VPZ9-1", "start_pos": "1225", "end_pos": "1225", "site_lbl": "Ser1225", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1225, "start_aa": "Ser", "end_pos": 1225, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1225", "evidence": [ { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "F8VPZ9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=F8VPZ9" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "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": "F8VPZ9-1", "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" } ] } ] }, { "uniprot_canonical_ac": "F8VPZ9-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Thr153", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 153, "start_aa": "Thr", "end_pos": 153, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr153", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "F8VPZ9-1", "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": "F8VPZ9-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Ser342", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 342, "start_aa": "Ser", "end_pos": 342, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser342", "evidence": [ { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "F8VPZ9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=F8VPZ9" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "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": "F8VPZ9-1", "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" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "7", "chr_pos": "15721777", "evidence": [ { "id": "rs3388854419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388854419" } ] } ] }, { "uniprot_canonical_ac": "F8VPZ9-1", "start_pos": "859", "end_pos": "859", "site_lbl": "Thr859", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 859, "start_aa": "Thr", "end_pos": 859, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr859", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "F8VPZ9-1", "start_pos": "894", "end_pos": "894", "site_lbl": "Thr894", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 894, "start_aa": "Thr", "end_pos": 894, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr894", "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": "15713521", "evidence": [ { "id": "rs3396855381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396855381" } ] } ] }, { "uniprot_canonical_ac": "F8VPZ9-1", "start_pos": "912", "end_pos": "912", "site_lbl": "Thr912", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 912, "start_aa": "Thr", "end_pos": 912, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr912", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "F8VPZ9-1", "start_pos": "1427", "end_pos": "1427", "site_lbl": "Ser1427", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ9", "url": "https://www.uniprot.org/uniprotkb/F8VPZ9" } ] } ] }, { "uniprot_canonical_ac": "F8VPZ9-1", "start_pos": "929", "end_pos": "929", "site_lbl": "Ser929", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ9", "url": "https://www.uniprot.org/uniprotkb/F8VPZ9" } ] } ] }, { "uniprot_canonical_ac": "F8VPZ9-1", "start_pos": "931", "end_pos": "931", "site_lbl": "Thr931", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPZ9", "url": "https://www.uniprot.org/uniprotkb/F8VPZ9" } ] } ] } ], "record_id": "F8VPZ9-1" }, { "uniprot_canonical_ac": "G3UW99-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "G3UW99", "url": "https://www.uniprot.org/uniprotkb/G3UW99" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 86, "chemical_mass": 10080.0, "gene_names": "Tex54;1700092M07Rik;Tex54", "protein_name": "Testis-expressed protein 54", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3UW99-1" }, { "uniprot_canonical_ac": "G3X9H3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "G3X9H3", "url": "https://www.uniprot.org/uniprotkb/G3X9H3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 648, "chemical_mass": 74131.0, "gene_names": "Zfp607b;C030039L03Rik;Zfp607b", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "G3X9H3", "url": "https://www.uniprot.org/uniprotkb/G3X9H3" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "G3X9H3", "url": "https://www.uniprot.org/uniprotkb/G3X9H3" } ], "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": "G3X9H3", "url": "https://www.uniprot.org/uniprotkb/G3X9H3" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "G3X9H3", "url": "https://www.uniprot.org/uniprotkb/G3X9H3" } ], "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": "G3X9H3", "url": "https://www.uniprot.org/uniprotkb/G3X9H3" } ], "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": "G3X9H3", "url": "https://www.uniprot.org/uniprotkb/G3X9H3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3X9H3-1" }, { "uniprot_canonical_ac": "G5E8Z3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "G5E8Z3", "url": "https://www.uniprot.org/uniprotkb/G5E8Z3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 280, "chemical_mass": 29144.0, "gene_names": "Kplce;2310050C09Rik;Kplce", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G5E8Z3-1" }, { "uniprot_canonical_ac": "J3QK27-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "J3QK27", "url": "https://www.uniprot.org/uniprotkb/J3QK27" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 380, "chemical_mass": 43242.0, "gene_names": "Rbmyf6;Gm21693;Rbmyf6", "protein_name": "", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "J3QK27", "url": "https://www.uniprot.org/uniprotkb/J3QK27" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "J3QK27", "url": "https://www.uniprot.org/uniprotkb/J3QK27" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "J3QK27", "url": "https://www.uniprot.org/uniprotkb/J3QK27" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "J3QK27", "url": "https://www.uniprot.org/uniprotkb/J3QK27" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "J3QK27", "url": "https://www.uniprot.org/uniprotkb/J3QK27" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "J3QK27", "url": "https://www.uniprot.org/uniprotkb/J3QK27" } ], "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": "J3QK27", "url": "https://www.uniprot.org/uniprotkb/J3QK27" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "J3QK27-1" }, { "uniprot_canonical_ac": "J3QPJ2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "J3QPJ2", "url": "https://www.uniprot.org/uniprotkb/J3QPJ2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 227, "chemical_mass": 25871.0, "gene_names": "Gm20821", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "J3QPJ2", "url": "https://www.uniprot.org/uniprotkb/J3QPJ2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "J3QPJ2", "url": "https://www.uniprot.org/uniprotkb/J3QPJ2" } ], "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": "J3QPJ2", "url": "https://www.uniprot.org/uniprotkb/J3QPJ2" } ], "pmid": "" }, { "name": "gamete generation", "id": "GO:0007276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007276", "evidence": [ { "database": "UniProtKB", "id": "J3QPJ2", "url": "https://www.uniprot.org/uniprotkb/J3QPJ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "J3QPJ2-1" }, { "uniprot_canonical_ac": "J3QPW6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "J3QPW6", "url": "https://www.uniprot.org/uniprotkb/J3QPW6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 241, "chemical_mass": 27288.0, "gene_names": "1700122O11Rik", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "J3QPW6-1" }, { "uniprot_canonical_ac": "Q7TQU7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TQU7", "url": "https://www.uniprot.org/uniprotkb/Q7TQU7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 313, "chemical_mass": 34636.0, "gene_names": "Or1i2;MOR128-3;MOR128-4;Olfr1357;Or1i2", "protein_name": "", "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": "Q7TQU7", "url": "https://www.uniprot.org/uniprotkb/Q7TQU7" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q7TQU7", "url": "https://www.uniprot.org/uniprotkb/Q7TQU7" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TQU7", "url": "https://www.uniprot.org/uniprotkb/Q7TQU7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7TQU7", "url": "https://www.uniprot.org/uniprotkb/Q7TQU7" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q7TQU7", "url": "https://www.uniprot.org/uniprotkb/Q7TQU7" } ], "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": "Q7TQU7", "url": "https://www.uniprot.org/uniprotkb/Q7TQU7" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q7TQU7", "url": "https://www.uniprot.org/uniprotkb/Q7TQU7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7TQU7-1" }, { "uniprot_canonical_ac": "Q7TRE1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TRE1", "url": "https://www.uniprot.org/uniprotkb/Q7TRE1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 309, "chemical_mass": 34591.0, "gene_names": "Or8b37;MOR162-11P;MOR162-13;MOR162-9P;Olfr1550-ps1;Olfr884;Or8b37", "protein_name": "", "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": "Q7TRE1", "url": "https://www.uniprot.org/uniprotkb/Q7TRE1" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q7TRE1", "url": "https://www.uniprot.org/uniprotkb/Q7TRE1" } ], "pmid": "" }, { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "Q7TRE1", "url": "https://www.uniprot.org/uniprotkb/Q7TRE1" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TRE1", "url": "https://www.uniprot.org/uniprotkb/Q7TRE1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7TRE1", "url": "https://www.uniprot.org/uniprotkb/Q7TRE1" } ], "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": "Q7TRE1", "url": "https://www.uniprot.org/uniprotkb/Q7TRE1" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q7TRE1", "url": "https://www.uniprot.org/uniprotkb/Q7TRE1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7TRE1-1" }, { "uniprot_canonical_ac": "Q7TS07-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TS07", "url": "https://www.uniprot.org/uniprotkb/Q7TS07" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 310, "chemical_mass": 35002.0, "gene_names": "Or14c45;MOR220-3;Olfr295;Olfr297;Or14c45", "protein_name": "", "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": "Q7TS07", "url": "https://www.uniprot.org/uniprotkb/Q7TS07" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q7TS07", "url": "https://www.uniprot.org/uniprotkb/Q7TS07" } ], "pmid": "" }, { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "Q7TS07", "url": "https://www.uniprot.org/uniprotkb/Q7TS07" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TS07", "url": "https://www.uniprot.org/uniprotkb/Q7TS07" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7TS07", "url": "https://www.uniprot.org/uniprotkb/Q7TS07" } ], "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": "Q7TS07", "url": "https://www.uniprot.org/uniprotkb/Q7TS07" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q7TS07", "url": "https://www.uniprot.org/uniprotkb/Q7TS07" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7TS07-1" }, { "uniprot_canonical_ac": "Q80SW5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80SW5", "url": "https://www.uniprot.org/uniprotkb/Q80SW5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 59, "chemical_mass": 6981.0, "gene_names": "Etd;1700030K02Rik;Etd", "protein_name": "Embryonic testis differentiation protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q80SW5-1" }, { "uniprot_canonical_ac": "Q8VFE3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VFE3", "url": "https://www.uniprot.org/uniprotkb/Q8VFE3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 313, "chemical_mass": 34787.0, "gene_names": "Or11a4;GA_x6K02T2PSCP-1665046-1665987;MOR121-1;Olfr96;Or11a4", "protein_name": "", "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": "Q8VFE3", "url": "https://www.uniprot.org/uniprotkb/Q8VFE3" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q8VFE3", "url": "https://www.uniprot.org/uniprotkb/Q8VFE3" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VFE3", "url": "https://www.uniprot.org/uniprotkb/Q8VFE3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VFE3", "url": "https://www.uniprot.org/uniprotkb/Q8VFE3" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8VFE3", "url": "https://www.uniprot.org/uniprotkb/Q8VFE3" } ], "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": "Q8VFE3", "url": "https://www.uniprot.org/uniprotkb/Q8VFE3" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q8VFE3", "url": "https://www.uniprot.org/uniprotkb/Q8VFE3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VFE3-1" }, { "uniprot_canonical_ac": "Q8VFI7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VFI7", "url": "https://www.uniprot.org/uniprotkb/Q8VFI7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 312, "chemical_mass": 35015.0, "gene_names": "Or7e173;MOR145-5;Olfr866;Or7e173", "protein_name": "", "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": "Q8VFI7", "url": "https://www.uniprot.org/uniprotkb/Q8VFI7" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q8VFI7", "url": "https://www.uniprot.org/uniprotkb/Q8VFI7" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VFI7", "url": "https://www.uniprot.org/uniprotkb/Q8VFI7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VFI7", "url": "https://www.uniprot.org/uniprotkb/Q8VFI7" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8VFI7", "url": "https://www.uniprot.org/uniprotkb/Q8VFI7" } ], "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": "Q8VFI7", "url": "https://www.uniprot.org/uniprotkb/Q8VFI7" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q8VFI7", "url": "https://www.uniprot.org/uniprotkb/Q8VFI7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VFI7-1" }, { "uniprot_canonical_ac": "Q8VGI9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VGI9", "url": "https://www.uniprot.org/uniprotkb/Q8VGI9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 311, "chemical_mass": 35371.0, "gene_names": "Or6c214;MOR117-1;Olfr807;Or6c214", "protein_name": "", "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": "Q8VGI9", "url": "https://www.uniprot.org/uniprotkb/Q8VGI9" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q8VGI9", "url": "https://www.uniprot.org/uniprotkb/Q8VGI9" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VGI9", "url": "https://www.uniprot.org/uniprotkb/Q8VGI9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VGI9", "url": "https://www.uniprot.org/uniprotkb/Q8VGI9" } ], "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": "Q8VGI9", "url": "https://www.uniprot.org/uniprotkb/Q8VGI9" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q8VGI9", "url": "https://www.uniprot.org/uniprotkb/Q8VGI9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VGI9-1" }, { "uniprot_canonical_ac": "Q9CPU3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CPU3", "url": "https://www.uniprot.org/uniprotkb/Q9CPU3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 165, "chemical_mass": 19100.0, "gene_names": "Tex46;4930549C01Rik;Tex46", "protein_name": "Testis expressed 46", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9CPU3", "url": "https://www.uniprot.org/uniprotkb/Q9CPU3" } ], "pmid": "" } ], "biological_process": [ { "name": "single fertilization", "id": "GO:0007338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007338", "evidence": [ { "database": "UniProtKB", "id": "Q9CPU3", "url": "https://www.uniprot.org/uniprotkb/Q9CPU3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CPU3-1" }, { "uniprot_canonical_ac": "F8VPJ6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "F8VPJ6", "url": "https://www.uniprot.org/uniprotkb/F8VPJ6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1459, "chemical_mass": 157638.0, "gene_names": "Rfx7;2510005N23Rik;9930116O05Rik;D130086K05Rik;Rfx7;Rfxdc2", "protein_name": "DNA-binding protein RFX7", "disease": [ { "disease_id": "DOID:0061044", "name": "autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities", "description": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21.", "url": "https://disease-ontology.org/term/DOID:0061044", "evidence": [ { "id": "0061044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061044" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "F8VPJ6", "url": "https://www.uniprot.org/uniprotkb/F8VPJ6" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "F8VPJ6", "url": "https://www.uniprot.org/uniprotkb/F8VPJ6" } ], "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": "F8VPJ6", "url": "https://www.uniprot.org/uniprotkb/F8VPJ6" } ], "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": "F8VPJ6", "url": "https://www.uniprot.org/uniprotkb/F8VPJ6" } ], "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": "F8VPJ6", "url": "https://www.uniprot.org/uniprotkb/F8VPJ6" } ], "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": "F8VPJ6", "url": "https://www.uniprot.org/uniprotkb/F8VPJ6" } ], "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": "F8VPJ6", "url": "https://www.uniprot.org/uniprotkb/F8VPJ6" } ], "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": "F8VPJ6", "url": "https://www.uniprot.org/uniprotkb/F8VPJ6" } ], "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": "F8VPJ6", "url": "https://www.uniprot.org/uniprotkb/F8VPJ6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "F8VPJ6-1", "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": "F8VPJ6-1", "start_pos": "951", "end_pos": "951", "site_lbl": "Thr951", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 951, "start_aa": "Thr", "end_pos": 951, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr951", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "F8VPJ6-1", "start_pos": "953", "end_pos": "953", "site_lbl": "Thr953", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 953, "start_aa": "Thr", "end_pos": 953, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr953", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "F8VPJ6-1", "start_pos": "955", "end_pos": "955", "site_lbl": "Thr955", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 955, "start_aa": "Thr", "end_pos": 955, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr955", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "F8VPJ6-1", "start_pos": "957", "end_pos": "957", "site_lbl": "Thr957", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 957, "start_aa": "Thr", "end_pos": 957, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr957", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "F8VPJ6-1", "start_pos": "959", "end_pos": "959", "site_lbl": "Thr959", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 959, "start_aa": "Thr", "end_pos": 959, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr959", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "F8VPJ6-1", "start_pos": "961", "end_pos": "961", "site_lbl": "Thr961", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 961, "start_aa": "Thr", "end_pos": 961, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr961", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "F8VPJ6-1", "start_pos": "963", "end_pos": "963", "site_lbl": "Thr963", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 963, "start_aa": "Thr", "end_pos": 963, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr963", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "F8VPJ6-1", "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 (NSP->NSS).", "chr_id": "9", "chr_pos": "72523967", "evidence": [ { "id": "rs37558107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37558107" } ] } ] }, { "uniprot_canonical_ac": "F8VPJ6-1", "start_pos": "708", "end_pos": "708", "site_lbl": "Ser708", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "9", "chr_pos": "72524934", "evidence": [ { "id": "rs3389060852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389060852" } ] } ] }, { "uniprot_canonical_ac": "F8VPJ6-1", "start_pos": "658", "end_pos": "658", "site_lbl": "Arg658", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "F8VPJ6", "url": "https://www.uniprot.org/uniprotkb/F8VPJ6" }, { "database": "PubMed", "id": "29967452", "url": "https://glygen.org/publication/PubMed/29967452" } ] } ] }, { "uniprot_canonical_ac": "F8VPJ6-1", "start_pos": "674", "end_pos": "674", "site_lbl": "Lys674", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "F8VPJ6", "url": "https://www.uniprot.org/uniprotkb/F8VPJ6" }, { "database": "PubMed", "id": "29967452", "url": "https://glygen.org/publication/PubMed/29967452" } ] } ] }, { "uniprot_canonical_ac": "F8VPJ6-1", "start_pos": "695", "end_pos": "695", "site_lbl": "Lys695", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No impact on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "F8VPJ6", "url": "https://www.uniprot.org/uniprotkb/F8VPJ6" }, { "database": "PubMed", "id": "29967452", "url": "https://glygen.org/publication/PubMed/29967452" } ] } ] } ], "record_id": "F8VPJ6-1" }, { "uniprot_canonical_ac": "J3QME2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "J3QME2", "url": "https://www.uniprot.org/uniprotkb/J3QME2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 227, "chemical_mass": 25920.0, "gene_names": "Gm20914;Gm20914", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "J3QME2", "url": "https://www.uniprot.org/uniprotkb/J3QME2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "J3QME2", "url": "https://www.uniprot.org/uniprotkb/J3QME2" } ], "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": "J3QME2", "url": "https://www.uniprot.org/uniprotkb/J3QME2" } ], "pmid": "" }, { "name": "gamete generation", "id": "GO:0007276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007276", "evidence": [ { "database": "UniProtKB", "id": "J3QME2", "url": "https://www.uniprot.org/uniprotkb/J3QME2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "J3QME2-1" }, { "uniprot_canonical_ac": "A0A087WQP5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A087WQP5", "url": "https://www.uniprot.org/uniprotkb/A0A087WQP5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 138, "chemical_mass": 11951.0, "gene_names": "Krtap28-13;5530401N06Rik;Krtap28-13", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A087WQP5-1" }, { "uniprot_canonical_ac": "A0N8N6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0N8N6", "url": "https://www.uniprot.org/uniprotkb/A0N8N6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 114, "chemical_mass": 12915.0, "gene_names": "Trav12-2", "protein_name": "", "disease": [], "cellular_component": [ { "name": "T cell receptor complex", "id": "GO:0042101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042101", "evidence": [ { "database": "UniProtKB", "id": "A0N8N6", "url": "https://www.uniprot.org/uniprotkb/A0N8N6" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0N8N6", "url": "https://www.uniprot.org/uniprotkb/A0N8N6" } ], "pmid": "" } ], "biological_process": [ { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0N8N6", "url": "https://www.uniprot.org/uniprotkb/A0N8N6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0N8N6-1" }, { "uniprot_canonical_ac": "A2ADB2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2ADB2", "url": "https://www.uniprot.org/uniprotkb/A2ADB2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 273, "chemical_mass": 29919.0, "gene_names": "Fam131c;Fam131c;Gm693", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2ADB2-1", "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" } ] } ] } ], "record_id": "A2ADB2-1" }, { "uniprot_canonical_ac": "A2ATA0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2ATA0", "url": "https://www.uniprot.org/uniprotkb/A2ATA0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 318, "chemical_mass": 35854.0, "gene_names": "Or12e1;MOR264-6;Olfr1112;Or12e1", "protein_name": "Olfactory receptor", "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": "A2ATA0", "url": "https://www.uniprot.org/uniprotkb/A2ATA0" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "A2ATA0", "url": "https://www.uniprot.org/uniprotkb/A2ATA0" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A2ATA0", "url": "https://www.uniprot.org/uniprotkb/A2ATA0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A2ATA0", "url": "https://www.uniprot.org/uniprotkb/A2ATA0" } ], "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": "A2ATA0", "url": "https://www.uniprot.org/uniprotkb/A2ATA0" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "A2ATA0", "url": "https://www.uniprot.org/uniprotkb/A2ATA0" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "A2ATA0", "url": "https://www.uniprot.org/uniprotkb/A2ATA0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A2ATA0-1" }, { "uniprot_canonical_ac": "A2BH01-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2BH01", "url": "https://www.uniprot.org/uniprotkb/A2BH01" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 229, "chemical_mass": 26447.0, "gene_names": "Gm14692;Gm1140", "protein_name": "", "disease": [], "biological_process": [ { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "A2BH01", "url": "https://www.uniprot.org/uniprotkb/A2BH01" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "A2BH01", "url": "https://www.uniprot.org/uniprotkb/A2BH01" } ], "pmid": "" } ], "cellular_component": [ { "name": "synaptonemal complex", "id": "GO:0000795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000795", "evidence": [ { "database": "UniProtKB", "id": "A2BH01", "url": "https://www.uniprot.org/uniprotkb/A2BH01" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A2BH01-1" }, { "uniprot_canonical_ac": "A3KG45-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A3KG45", "url": "https://www.uniprot.org/uniprotkb/A3KG45" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 208, "chemical_mass": 21802.0, "gene_names": "Ctag2l1;Ctag2l1;EG628456;Gm6880", "protein_name": "L antigen family member 3", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A3KG45", "url": "https://www.uniprot.org/uniprotkb/A3KG45" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A3KG45", "url": "https://www.uniprot.org/uniprotkb/A3KG45" } ], "pmid": "" }, { "name": "EKC/KEOPS complex", "id": "GO:0000408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000408", "evidence": [ { "database": "UniProtKB", "id": "A3KG45", "url": "https://www.uniprot.org/uniprotkb/A3KG45" } ], "pmid": "" } ], "biological_process": [ { "name": "tRNA processing", "id": "GO:0008033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008033", "evidence": [ { "database": "UniProtKB", "id": "A3KG45", "url": "https://www.uniprot.org/uniprotkb/A3KG45" } ], "pmid": "" }, { "name": "tRNA threonylcarbamoyladenosine metabolic process", "id": "GO:0070525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070525", "evidence": [ { "database": "UniProtKB", "id": "A3KG45", "url": "https://www.uniprot.org/uniprotkb/A3KG45" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "A3KG45", "url": "https://www.uniprot.org/uniprotkb/A3KG45" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A3KG45-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Thr64", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 64, "start_aa": "Thr", "end_pos": 64, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr64", "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": "X", "chr_pos": "73524816", "evidence": [ { "id": "rs3554650026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3554650026" } ] } ] }, { "uniprot_canonical_ac": "A3KG45-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Pro46", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVP->NVT).", "chr_id": "X", "chr_pos": "73524870", "evidence": [ { "id": "rs3389580835", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389580835" } ] } ] } ], "record_id": "A3KG45-1" }, { "uniprot_canonical_ac": "B1ASY6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1ASY6", "url": "https://www.uniprot.org/uniprotkb/B1ASY6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 285, "chemical_mass": 33434.0, "gene_names": "AU015836", "protein_name": "Mitochondrial intermembrane space import and assembly protein 40", "disease": [], "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": "B1ASY6", "url": "https://www.uniprot.org/uniprotkb/B1ASY6" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "B1ASY6", "url": "https://www.uniprot.org/uniprotkb/B1ASY6" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-disulfide reductase activity", "id": "GO:0015035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015035", "evidence": [ { "database": "UniProtKB", "id": "B1ASY6", "url": "https://www.uniprot.org/uniprotkb/B1ASY6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B1ASY6-1" }, { "uniprot_canonical_ac": "B2RVW2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B2RVW2", "url": "https://www.uniprot.org/uniprotkb/B2RVW2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 232, "chemical_mass": 25486.0, "gene_names": "Clrn2;Clrn2;EG624224;mpc169H", "protein_name": "Clarin-2", "disease": [ { "disease_id": "DOID:0050565", "name": "autosomal recessive nonsyndromic deafness", "description": "A nonsyndromic deafness characterized by an autosomal recessive inheritance mode.", "url": "https://disease-ontology.org/term/DOID:0050565", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ], "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": "B2RVW2", "url": "https://www.uniprot.org/uniprotkb/B2RVW2" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "B2RVW2", "url": "https://www.uniprot.org/uniprotkb/B2RVW2" } ], "pmid": "" }, { "name": "auditory receptor cell stereocilium organization", "id": "GO:0060088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060088", "evidence": [ { "database": "UniProtKB", "id": "B2RVW2", "url": "https://www.uniprot.org/uniprotkb/B2RVW2" } ], "pmid": "" }, { "name": "stereocilium maintenance", "id": "GO:0120045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120045", "evidence": [ { "database": "UniProtKB", "id": "B2RVW2", "url": "https://www.uniprot.org/uniprotkb/B2RVW2" } ], "pmid": "" } ], "cellular_component": [ { "name": "stereocilium bundle", "id": "GO:0032421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032421", "evidence": [ { "database": "UniProtKB", "id": "B2RVW2", "url": "https://www.uniprot.org/uniprotkb/B2RVW2" } ], "pmid": "" }, { "name": "stereocilium membrane", "id": "GO:0060171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060171", "evidence": [ { "database": "UniProtKB", "id": "B2RVW2", "url": "https://www.uniprot.org/uniprotkb/B2RVW2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B2RVW2-1" }, { "uniprot_canonical_ac": "B2RXA7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B2RXA7", "url": "https://www.uniprot.org/uniprotkb/B2RXA7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 518, "chemical_mass": 57026.0, "gene_names": "Cyp26c1;Cyp26c1;EG546726", "protein_name": "Cytochrome P450 26C1", "disease": [], "molecular_function": [ { "name": "retinoic acid 4-hydroxylase activity", "id": "GO:0008401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008401", "evidence": [ { "database": "UniProtKB", "id": "B2RXA7", "url": "https://www.uniprot.org/uniprotkb/B2RXA7" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "B2RXA7", "url": "https://www.uniprot.org/uniprotkb/B2RXA7" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "B2RXA7", "url": "https://www.uniprot.org/uniprotkb/B2RXA7" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "id": "GO:0016712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016712", "evidence": [ { "database": "UniProtKB", "id": "B2RXA7", "url": "https://www.uniprot.org/uniprotkb/B2RXA7" } ], "pmid": "" }, { "name": "retinoic acid binding", "id": "GO:0001972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001972", "evidence": [ { "database": "UniProtKB", "id": "B2RXA7", "url": "https://www.uniprot.org/uniprotkb/B2RXA7" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "B2RXA7", "url": "https://www.uniprot.org/uniprotkb/B2RXA7" } ], "pmid": "" } ], "biological_process": [ { "name": "organelle fusion", "id": "GO:0048284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048284", "evidence": [ { "database": "UniProtKB", "id": "B2RXA7", "url": "https://www.uniprot.org/uniprotkb/B2RXA7" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "B2RXA7", "url": "https://www.uniprot.org/uniprotkb/B2RXA7" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "B2RXA7", "url": "https://www.uniprot.org/uniprotkb/B2RXA7" } ], "pmid": "" }, { "name": "neural crest cell development", "id": "GO:0014032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014032", "evidence": [ { "database": "UniProtKB", "id": "B2RXA7", "url": "https://www.uniprot.org/uniprotkb/B2RXA7" } ], "pmid": "" }, { "name": "retinoic acid catabolic process", "id": "GO:0034653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034653", "evidence": [ { "database": "UniProtKB", "id": "B2RXA7", "url": "https://www.uniprot.org/uniprotkb/B2RXA7" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "B2RXA7", "url": "https://www.uniprot.org/uniprotkb/B2RXA7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B2RXA7-1" }, { "uniprot_canonical_ac": "D3YWX5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3YWX5", "url": "https://www.uniprot.org/uniprotkb/D3YWX5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 253, "chemical_mass": 27323.0, "gene_names": "Prr23a2;EG623186;Gm6406;Prr23a2", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3YWX5-1" }, { "uniprot_canonical_ac": "E9PWZ2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PWZ2", "url": "https://www.uniprot.org/uniprotkb/E9PWZ2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 93, "chemical_mass": 10104.0, "gene_names": "Scgb1b20;634929;Abpa20;EG545948;Gm5895;Gm7147;Scgb1b11;Scgb1b20", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "E9PWZ2", "url": "https://www.uniprot.org/uniprotkb/E9PWZ2" } ], "pmid": "" } ], "molecular_function": [ { "name": "steroid binding", "id": "GO:0005496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005496", "evidence": [ { "database": "UniProtKB", "id": "E9PWZ2", "url": "https://www.uniprot.org/uniprotkb/E9PWZ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PWZ2-1" }, { "uniprot_canonical_ac": "B1ARD8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1ARD8", "url": "https://www.uniprot.org/uniprotkb/B1ARD8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 910, "chemical_mass": 104264.0, "gene_names": "Slfn8;Slfn8;mSLFN8", "protein_name": "Schlafen family member 8", "disease": [], "biological_process": [ { "name": "tRNA decay", "id": "GO:0016078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016078", "evidence": [ { "database": "UniProtKB", "id": "B1ARD8", "url": "https://www.uniprot.org/uniprotkb/B1ARD8" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "B1ARD8", "url": "https://www.uniprot.org/uniprotkb/B1ARD8" } ], "pmid": "" }, { "name": "rRNA catabolic process", "id": "GO:0016075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016075", "evidence": [ { "database": "UniProtKB", "id": "B1ARD8", "url": "https://www.uniprot.org/uniprotkb/B1ARD8" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "B1ARD8", "url": "https://www.uniprot.org/uniprotkb/B1ARD8" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "B1ARD8", "url": "https://www.uniprot.org/uniprotkb/B1ARD8" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "B1ARD8", "url": "https://www.uniprot.org/uniprotkb/B1ARD8" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "B1ARD8", "url": "https://www.uniprot.org/uniprotkb/B1ARD8" } ], "pmid": "" }, { "name": "tRNA binding", "id": "GO:0000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000049", "evidence": [ { "database": "UniProtKB", "id": "B1ARD8", "url": "https://www.uniprot.org/uniprotkb/B1ARD8" } ], "pmid": "" }, { "name": "RNA endonuclease activity", "id": "GO:0004521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004521", "evidence": [ { "database": "UniProtKB", "id": "B1ARD8", "url": "https://www.uniprot.org/uniprotkb/B1ARD8" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "B1ARD8", "url": "https://www.uniprot.org/uniprotkb/B1ARD8" } ], "pmid": "" }, { "name": "endonuclease activity", "id": "GO:0004519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004519", "evidence": [ { "database": "UniProtKB", "id": "B1ARD8", "url": "https://www.uniprot.org/uniprotkb/B1ARD8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B1ARD8", "url": "https://www.uniprot.org/uniprotkb/B1ARD8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "B1ARD8", "url": "https://www.uniprot.org/uniprotkb/B1ARD8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "B1ARD8", "url": "https://www.uniprot.org/uniprotkb/B1ARD8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "B1ARD8", "url": "https://www.uniprot.org/uniprotkb/B1ARD8" } ], "pmid": "" }, { "name": "site of DNA damage", "id": "GO:0090734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090734", "evidence": [ { "database": "UniProtKB", "id": "B1ARD8", "url": "https://www.uniprot.org/uniprotkb/B1ARD8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B1ARD8-1" }, { "uniprot_canonical_ac": "E9Q252-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q252", "url": "https://www.uniprot.org/uniprotkb/E9Q252" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 308, "chemical_mass": 34497.0, "gene_names": "Or52ac1;MOR38-1;Olfr655;Or52ac1", "protein_name": "", "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": "E9Q252", "url": "https://www.uniprot.org/uniprotkb/E9Q252" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "E9Q252", "url": "https://www.uniprot.org/uniprotkb/E9Q252" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9Q252", "url": "https://www.uniprot.org/uniprotkb/E9Q252" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "E9Q252", "url": "https://www.uniprot.org/uniprotkb/E9Q252" } ], "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": "E9Q252", "url": "https://www.uniprot.org/uniprotkb/E9Q252" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "E9Q252", "url": "https://www.uniprot.org/uniprotkb/E9Q252" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q252-1" }, { "uniprot_canonical_ac": "E9Q3K2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q3K2", "url": "https://www.uniprot.org/uniprotkb/E9Q3K2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 317, "chemical_mass": 35599.0, "gene_names": "Or2t1;MOR274-1;MTPCR53;Olfr31;Or2t1", "protein_name": "Olfactory receptor", "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": "E9Q3K2", "url": "https://www.uniprot.org/uniprotkb/E9Q3K2" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "E9Q3K2", "url": "https://www.uniprot.org/uniprotkb/E9Q3K2" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9Q3K2", "url": "https://www.uniprot.org/uniprotkb/E9Q3K2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "E9Q3K2", "url": "https://www.uniprot.org/uniprotkb/E9Q3K2" } ], "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": "E9Q3K2", "url": "https://www.uniprot.org/uniprotkb/E9Q3K2" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "E9Q3K2", "url": "https://www.uniprot.org/uniprotkb/E9Q3K2" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "E9Q3K2", "url": "https://www.uniprot.org/uniprotkb/E9Q3K2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q3K2-1" }, { "uniprot_canonical_ac": "E9Q9Z0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q9Z0", "url": "https://www.uniprot.org/uniprotkb/E9Q9Z0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 307, "chemical_mass": 34919.0, "gene_names": "Or11h23;MOR106-9P;Olfr748;Or11h23", "protein_name": "Olfactory receptor", "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": "E9Q9Z0", "url": "https://www.uniprot.org/uniprotkb/E9Q9Z0" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "E9Q9Z0", "url": "https://www.uniprot.org/uniprotkb/E9Q9Z0" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9Q9Z0", "url": "https://www.uniprot.org/uniprotkb/E9Q9Z0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "E9Q9Z0", "url": "https://www.uniprot.org/uniprotkb/E9Q9Z0" } ], "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": "E9Q9Z0", "url": "https://www.uniprot.org/uniprotkb/E9Q9Z0" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "E9Q9Z0", "url": "https://www.uniprot.org/uniprotkb/E9Q9Z0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q9Z0-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Thr261", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 261, "start_aa": "Thr", "end_pos": 261, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr261", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q9Z0-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Thr282", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 282, "start_aa": "Thr", "end_pos": 282, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr282", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "E9Q9Z0-1" }, { "uniprot_canonical_ac": "G3UW52-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "G3UW52", "url": "https://www.uniprot.org/uniprotkb/G3UW52" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 211, "chemical_mass": 23800.0, "gene_names": "Cldn34a;635396;Cldn34a;Gm7157", "protein_name": "", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "G3UW52", "url": "https://www.uniprot.org/uniprotkb/G3UW52" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "G3UW52", "url": "https://www.uniprot.org/uniprotkb/G3UW52" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "G3UW52", "url": "https://www.uniprot.org/uniprotkb/G3UW52" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3UW52-1" }, { "uniprot_canonical_ac": "G5E905-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "G5E905", "url": "https://www.uniprot.org/uniprotkb/G5E905" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 615, "chemical_mass": 71500.0, "gene_names": "Zfp871;4732483N19;9030612M13Rik;Zfp871;mKIAA3006", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "G5E905", "url": "https://www.uniprot.org/uniprotkb/G5E905" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "G5E905", "url": "https://www.uniprot.org/uniprotkb/G5E905" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "G5E905", "url": "https://www.uniprot.org/uniprotkb/G5E905" } ], "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": "G5E905", "url": "https://www.uniprot.org/uniprotkb/G5E905" } ], "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": "G5E905", "url": "https://www.uniprot.org/uniprotkb/G5E905" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "G5E905", "url": "https://www.uniprot.org/uniprotkb/G5E905" } ], "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": "G5E905", "url": "https://www.uniprot.org/uniprotkb/G5E905" } ], "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": "G5E905", "url": "https://www.uniprot.org/uniprotkb/G5E905" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G5E905-1" }, { "uniprot_canonical_ac": "J3KMI7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "J3KMI7", "url": "https://www.uniprot.org/uniprotkb/J3KMI7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 228, "chemical_mass": 25985.0, "gene_names": "Gm20822;Gm20822;Gm20828", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "J3KMI7", "url": "https://www.uniprot.org/uniprotkb/J3KMI7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "J3KMI7", "url": "https://www.uniprot.org/uniprotkb/J3KMI7" } ], "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": "J3KMI7", "url": "https://www.uniprot.org/uniprotkb/J3KMI7" } ], "pmid": "" }, { "name": "gamete generation", "id": "GO:0007276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007276", "evidence": [ { "database": "UniProtKB", "id": "J3KMI7", "url": "https://www.uniprot.org/uniprotkb/J3KMI7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "J3KMI7-1" }, { "uniprot_canonical_ac": "J3QM67-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "J3QM67", "url": "https://www.uniprot.org/uniprotkb/J3QM67" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 227, "chemical_mass": 25765.0, "gene_names": "Gm20825;Gm20825", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "J3QM67", "url": "https://www.uniprot.org/uniprotkb/J3QM67" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "J3QM67", "url": "https://www.uniprot.org/uniprotkb/J3QM67" } ], "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": "J3QM67", "url": "https://www.uniprot.org/uniprotkb/J3QM67" } ], "pmid": "" }, { "name": "gamete generation", "id": "GO:0007276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007276", "evidence": [ { "database": "UniProtKB", "id": "J3QM67", "url": "https://www.uniprot.org/uniprotkb/J3QM67" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "J3QM67-1" }, { "uniprot_canonical_ac": "J3QMK7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "J3QMK7", "url": "https://www.uniprot.org/uniprotkb/J3QMK7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 227, "chemical_mass": 25805.0, "gene_names": "Gm21721", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "J3QMK7", "url": "https://www.uniprot.org/uniprotkb/J3QMK7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "J3QMK7", "url": "https://www.uniprot.org/uniprotkb/J3QMK7" } ], "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": "J3QMK7", "url": "https://www.uniprot.org/uniprotkb/J3QMK7" } ], "pmid": "" }, { "name": "gamete generation", "id": "GO:0007276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007276", "evidence": [ { "database": "UniProtKB", "id": "J3QMK7", "url": "https://www.uniprot.org/uniprotkb/J3QMK7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "J3QMK7-1" }, { "uniprot_canonical_ac": "J3QNB2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "J3QNB2", "url": "https://www.uniprot.org/uniprotkb/J3QNB2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 140, "chemical_mass": 16842.0, "gene_names": "9330182O14Rik;9330182O14Rik", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "J3QNB2-1" }, { "uniprot_canonical_ac": "Q7M708-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7M708", "url": "https://www.uniprot.org/uniprotkb/Q7M708" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 310, "chemical_mass": 36181.0, "gene_names": "Tas2r131;T2R31;Tas2r131;Tas2r31;mGR31;mt2r61", "protein_name": "Taste receptor type 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": "Q7M708", "url": "https://www.uniprot.org/uniprotkb/Q7M708" } ], "pmid": "" }, { "name": "bitter taste receptor activity", "id": "GO:0033038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033038", "evidence": [ { "database": "UniProtKB", "id": "Q7M708", "url": "https://www.uniprot.org/uniprotkb/Q7M708" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7M708", "url": "https://www.uniprot.org/uniprotkb/Q7M708" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7M708-1" }, { "uniprot_canonical_ac": "Q7TQZ6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TQZ6", "url": "https://www.uniprot.org/uniprotkb/Q7TQZ6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 314, "chemical_mass": 35531.0, "gene_names": "Or4a73;MOR2319;Olfr1246;Olfr1252;Or4a73", "protein_name": "Olfactory receptor", "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": "Q7TQZ6", "url": "https://www.uniprot.org/uniprotkb/Q7TQZ6" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q7TQZ6", "url": "https://www.uniprot.org/uniprotkb/Q7TQZ6" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TQZ6", "url": "https://www.uniprot.org/uniprotkb/Q7TQZ6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7TQZ6-1" }, { "uniprot_canonical_ac": "Q7TR79-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TR79", "url": "https://www.uniprot.org/uniprotkb/Q7TR79" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 316, "chemical_mass": 35868.0, "gene_names": "Or8k1;MOR194-1;Olfr1046;Or8k1", "protein_name": "Olfactory receptor", "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": "Q7TR79", "url": "https://www.uniprot.org/uniprotkb/Q7TR79" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q7TR79", "url": "https://www.uniprot.org/uniprotkb/Q7TR79" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TR79", "url": "https://www.uniprot.org/uniprotkb/Q7TR79" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7TR79", "url": "https://www.uniprot.org/uniprotkb/Q7TR79" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q7TR79", "url": "https://www.uniprot.org/uniprotkb/Q7TR79" } ], "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": "Q7TR79", "url": "https://www.uniprot.org/uniprotkb/Q7TR79" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q7TR79", "url": "https://www.uniprot.org/uniprotkb/Q7TR79" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7TR79-1" }, { "uniprot_canonical_ac": "Q8BFS8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BFS8", "url": "https://www.uniprot.org/uniprotkb/Q8BFS8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 652, "chemical_mass": 75113.0, "gene_names": "ZNF418;A230102I05Rik;ZNF418;Zfp418", "protein_name": "Zinc finger protein 418", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BFS8", "url": "https://www.uniprot.org/uniprotkb/Q8BFS8" } ], "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": "Q8BFS8", "url": "https://www.uniprot.org/uniprotkb/Q8BFS8" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "Q8BFS8", "url": "https://www.uniprot.org/uniprotkb/Q8BFS8" } ], "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": "Q8BFS8", "url": "https://www.uniprot.org/uniprotkb/Q8BFS8" } ], "pmid": "" }, { "name": "microautophagy", "id": "GO:0016237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016237", "evidence": [ { "database": "UniProtKB", "id": "Q8BFS8", "url": "https://www.uniprot.org/uniprotkb/Q8BFS8" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8BFS8", "url": "https://www.uniprot.org/uniprotkb/Q8BFS8" } ], "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": "Q8BFS8", "url": "https://www.uniprot.org/uniprotkb/Q8BFS8" } ], "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": "Q8BFS8", "url": "https://www.uniprot.org/uniprotkb/Q8BFS8" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity", "id": "GO:0001217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001217", "evidence": [ { "database": "UniProtKB", "id": "Q8BFS8", "url": "https://www.uniprot.org/uniprotkb/Q8BFS8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BFS8-1" }, { "uniprot_canonical_ac": "Q8R2D8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R2D8", "url": "https://www.uniprot.org/uniprotkb/Q8R2D8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 303, "chemical_mass": 35284.0, "gene_names": "Vmn1r17;V1rc16;Vmn1r17", "protein_name": "Vomeronasal type-1 receptor", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R2D8", "url": "https://www.uniprot.org/uniprotkb/Q8R2D8" } ], "pmid": "" } ], "biological_process": [ { "name": "response to pheromone", "id": "GO:0019236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019236", "evidence": [ { "database": "UniProtKB", "id": "Q8R2D8", "url": "https://www.uniprot.org/uniprotkb/Q8R2D8" } ], "pmid": "" }, { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "Q8R2D8", "url": "https://www.uniprot.org/uniprotkb/Q8R2D8" } ], "pmid": "" } ], "molecular_function": [ { "name": "pheromone binding", "id": "GO:0005550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005550", "evidence": [ { "database": "UniProtKB", "id": "Q8R2D8", "url": "https://www.uniprot.org/uniprotkb/Q8R2D8" } ], "pmid": "" }, { "name": "pheromone receptor activity", "id": "GO:0016503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016503", "evidence": [ { "database": "UniProtKB", "id": "Q8R2D8", "url": "https://www.uniprot.org/uniprotkb/Q8R2D8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8R2D8-1" }, { "uniprot_canonical_ac": "Q8VFE8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VFE8", "url": "https://www.uniprot.org/uniprotkb/Q8VFE8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 307, "chemical_mass": 34250.0, "gene_names": "Or12j3;MOR252-2;Olfr530;Or12j3", "protein_name": "", "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": "Q8VFE8", "url": "https://www.uniprot.org/uniprotkb/Q8VFE8" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q8VFE8", "url": "https://www.uniprot.org/uniprotkb/Q8VFE8" } ], "pmid": "" }, { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "Q8VFE8", "url": "https://www.uniprot.org/uniprotkb/Q8VFE8" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VFE8", "url": "https://www.uniprot.org/uniprotkb/Q8VFE8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VFE8", "url": "https://www.uniprot.org/uniprotkb/Q8VFE8" } ], "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": "Q8VFE8", "url": "https://www.uniprot.org/uniprotkb/Q8VFE8" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q8VFE8", "url": "https://www.uniprot.org/uniprotkb/Q8VFE8" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "Q8VFE8", "url": "https://www.uniprot.org/uniprotkb/Q8VFE8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VFE8-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Thr281", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 281, "start_aa": "Thr", "end_pos": 281, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr281", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VFE8-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Lys138", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KVC->NVC).", "chr_id": "7", "chr_pos": "139953108", "evidence": [ { "id": "rs3388952488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388952488" } ] } ] } ], "record_id": "Q8VFE8-1" }, { "uniprot_canonical_ac": "Q8VFJ4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VFJ4", "url": "https://www.uniprot.org/uniprotkb/Q8VFJ4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 312, "chemical_mass": 34937.0, "gene_names": "Or7g22;MOR152-2;Olfr837;Or7g22", "protein_name": "Olfactory receptor", "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": "Q8VFJ4", "url": "https://www.uniprot.org/uniprotkb/Q8VFJ4" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q8VFJ4", "url": "https://www.uniprot.org/uniprotkb/Q8VFJ4" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VFJ4", "url": "https://www.uniprot.org/uniprotkb/Q8VFJ4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VFJ4", "url": "https://www.uniprot.org/uniprotkb/Q8VFJ4" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8VFJ4", "url": "https://www.uniprot.org/uniprotkb/Q8VFJ4" } ], "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": "Q8VFJ4", "url": "https://www.uniprot.org/uniprotkb/Q8VFJ4" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q8VFJ4", "url": "https://www.uniprot.org/uniprotkb/Q8VFJ4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VFJ4-1" }, { "uniprot_canonical_ac": "Q8VFU4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VFU4", "url": "https://www.uniprot.org/uniprotkb/Q8VFU4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 315, "chemical_mass": 35614.0, "gene_names": "Or9r7;MOR210-3;Olfr824;Or9r7", "protein_name": "Olfactory receptor", "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": "Q8VFU4", "url": "https://www.uniprot.org/uniprotkb/Q8VFU4" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q8VFU4", "url": "https://www.uniprot.org/uniprotkb/Q8VFU4" } ], "pmid": "" }, { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "Q8VFU4", "url": "https://www.uniprot.org/uniprotkb/Q8VFU4" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VFU4", "url": "https://www.uniprot.org/uniprotkb/Q8VFU4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VFU4", "url": "https://www.uniprot.org/uniprotkb/Q8VFU4" } ], "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": "Q8VFU4", "url": "https://www.uniprot.org/uniprotkb/Q8VFU4" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q8VFU4", "url": "https://www.uniprot.org/uniprotkb/Q8VFU4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VFU4-1" }, { "uniprot_canonical_ac": "Q8VG63-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VG63", "url": "https://www.uniprot.org/uniprotkb/Q8VG63" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 306, "chemical_mass": 34113.0, "gene_names": "Or4c52;MOR234-2;Olfr1261;Olfr1263;Or4c52", "protein_name": "", "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": "Q8VG63", "url": "https://www.uniprot.org/uniprotkb/Q8VG63" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q8VG63", "url": "https://www.uniprot.org/uniprotkb/Q8VG63" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VG63", "url": "https://www.uniprot.org/uniprotkb/Q8VG63" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VG63", "url": "https://www.uniprot.org/uniprotkb/Q8VG63" } ], "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": "Q8VG63", "url": "https://www.uniprot.org/uniprotkb/Q8VG63" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q8VG63", "url": "https://www.uniprot.org/uniprotkb/Q8VG63" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VG63-1" }, { "uniprot_canonical_ac": "Q8VG91-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VG91", "url": "https://www.uniprot.org/uniprotkb/Q8VG91" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 310, "chemical_mass": 34410.0, "gene_names": "Or10d5;MOR224-2;Olfr975;Or10d5", "protein_name": "", "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": "Q8VG91", "url": "https://www.uniprot.org/uniprotkb/Q8VG91" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q8VG91", "url": "https://www.uniprot.org/uniprotkb/Q8VG91" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VG91", "url": "https://www.uniprot.org/uniprotkb/Q8VG91" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VG91", "url": "https://www.uniprot.org/uniprotkb/Q8VG91" } ], "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": "Q8VG91", "url": "https://www.uniprot.org/uniprotkb/Q8VG91" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q8VG91", "url": "https://www.uniprot.org/uniprotkb/Q8VG91" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "Q8VG91", "url": "https://www.uniprot.org/uniprotkb/Q8VG91" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VG91-1" }, { "uniprot_canonical_ac": "Q8VGN6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VGN6", "url": "https://www.uniprot.org/uniprotkb/Q8VGN6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 311, "chemical_mass": 34774.0, "gene_names": "Or4c10;MOR232-3;Olfr1258;Or4c10", "protein_name": "Olfactory receptor", "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": "Q8VGN6", "url": "https://www.uniprot.org/uniprotkb/Q8VGN6" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q8VGN6", "url": "https://www.uniprot.org/uniprotkb/Q8VGN6" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VGN6", "url": "https://www.uniprot.org/uniprotkb/Q8VGN6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VGN6", "url": "https://www.uniprot.org/uniprotkb/Q8VGN6" } ], "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": "Q8VGN6", "url": "https://www.uniprot.org/uniprotkb/Q8VGN6" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q8VGN6", "url": "https://www.uniprot.org/uniprotkb/Q8VGN6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VGN6-1" }, { "uniprot_canonical_ac": "Q9EPF8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EPF8", "url": "https://www.uniprot.org/uniprotkb/Q9EPF8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 316, "chemical_mass": 34981.0, "gene_names": "Or2ag2;MOR283-11;Olfr706;Or2ag2", "protein_name": "", "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": "Q9EPF8", "url": "https://www.uniprot.org/uniprotkb/Q9EPF8" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q9EPF8", "url": "https://www.uniprot.org/uniprotkb/Q9EPF8" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9EPF8", "url": "https://www.uniprot.org/uniprotkb/Q9EPF8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9EPF8", "url": "https://www.uniprot.org/uniprotkb/Q9EPF8" } ], "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": "Q9EPF8", "url": "https://www.uniprot.org/uniprotkb/Q9EPF8" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q9EPF8", "url": "https://www.uniprot.org/uniprotkb/Q9EPF8" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "Q9EPF8", "url": "https://www.uniprot.org/uniprotkb/Q9EPF8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EPF8-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Thr282", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 282, "start_aa": "Thr", "end_pos": 282, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr282", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q9EPF8-1" }, { "uniprot_canonical_ac": "A0A571BEP9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A571BEP9", "url": "https://www.uniprot.org/uniprotkb/A0A571BEP9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 216, "chemical_mass": 23175.0, "gene_names": "Krtap13-23;Gm5965", "protein_name": "Keratin-associated protein", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEP9", "url": "https://www.uniprot.org/uniprotkb/A0A571BEP9" } ], "pmid": "" }, { "name": "keratin filament", "id": "GO:0045095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045095", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEP9", "url": "https://www.uniprot.org/uniprotkb/A0A571BEP9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A571BEP9-1" }, { "uniprot_canonical_ac": "A0A571BES4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A571BES4", "url": "https://www.uniprot.org/uniprotkb/A0A571BES4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 139, "chemical_mass": 16117.0, "gene_names": "Tmem250;C330006A16Rik;Tmem250-ps;Tmem250", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A571BES4", "url": "https://www.uniprot.org/uniprotkb/A0A571BES4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A0A571BES4", "url": "https://www.uniprot.org/uniprotkb/A0A571BES4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A571BES4", "url": "https://www.uniprot.org/uniprotkb/A0A571BES4" } ], "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": "A0A571BES4", "url": "https://www.uniprot.org/uniprotkb/A0A571BES4" } ], "pmid": "" }, { "name": "positive regulation of viral process", "id": "GO:0048524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048524", "evidence": [ { "database": "UniProtKB", "id": "A0A571BES4", "url": "https://www.uniprot.org/uniprotkb/A0A571BES4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A571BES4-1" }, { "uniprot_canonical_ac": "A0A571BDQ7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A571BDQ7", "url": "https://www.uniprot.org/uniprotkb/A0A571BDQ7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1158, "chemical_mass": 133152.0, "gene_names": "Cfap92;1810020O05Rik;Cfap92", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A571BDQ7-1" }, { "uniprot_canonical_ac": "A0A571BEE7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A571BEE7", "url": "https://www.uniprot.org/uniprotkb/A0A571BEE7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 98, "chemical_mass": 11285.0, "gene_names": "Tmem74bos;Tmem74bos", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A571BEE7-1" }, { "uniprot_canonical_ac": "A0A571BEV2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A571BEV2", "url": "https://www.uniprot.org/uniprotkb/A0A571BEV2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 6590, "chemical_mass": 747323.0, "gene_names": "Ccdc168;Ccdc168;EG666713;Gm8251;Lrtm3", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A571BEV2-1", "start_pos": "1179", "end_pos": "1179", "site_lbl": "Thr1179", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1179, "start_aa": "Thr", "end_pos": 1179, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1179", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEV2-1", "start_pos": "3312", "end_pos": "3312", "site_lbl": "Asn3312", "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": "LFNITGYR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3312, "start_aa": "Asn", "end_pos": 3312, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3312", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEV2-1", "start_pos": "3382", "end_pos": "3382", "site_lbl": "Asn3382", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G68040BX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TNTSKRLSGQPVDNNSISSTVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3382, "start_aa": "Asn", "end_pos": 3382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3382", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEV2-1", "start_pos": "3394", "end_pos": "3394", "site_lbl": "Asn3394", "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": "LSGQPVDNNSISSTVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3394, "start_aa": "Asn", "end_pos": 3394, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3394", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEV2-1", "start_pos": "3865", "end_pos": "3865", "site_lbl": "Asn3865", "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": "EALSEVGNMSSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3865, "start_aa": "Asn", "end_pos": 3865, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3865", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEV2-1", "start_pos": "4711", "end_pos": "4711", "site_lbl": "Asn4711", "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": "TIDNNFTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 4711, "start_aa": "Asn", "end_pos": 4711, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn4711", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEV2-1", "start_pos": "5957", "end_pos": "5957", "site_lbl": "Asn5957", "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": "LNQIPDMVNTSLQNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 5957, "start_aa": "Asn", "end_pos": 5957, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn5957", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEV2-1", "start_pos": "921", "end_pos": "921", "site_lbl": "Thr921", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 921, "start_aa": "Thr", "end_pos": 921, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr921", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEV2-1", "start_pos": "1370", "end_pos": "1370", "site_lbl": "Asp1370", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "1", "chr_pos": "44110777", "evidence": [ { "id": "rs218912741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218912741" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEV2-1", "start_pos": "1470", "end_pos": "1470", "site_lbl": "Ser1470", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SET->NET).", "chr_id": "1", "chr_pos": "44096688", "evidence": [ { "id": "rs235588391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235588391" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEV2-1", "start_pos": "2099", "end_pos": "2099", "site_lbl": "Ala2099", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "1", "chr_pos": "44108590", "evidence": [ { "id": "rs33485619", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33485619" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEV2-1", "start_pos": "3168", "end_pos": "3168", "site_lbl": "Ile3168", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IFS->NFS).", "chr_id": "1", "chr_pos": "44105382", "evidence": [ { "id": "rs1134937325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134937325" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEV2-1", "start_pos": "4886", "end_pos": "4886", "site_lbl": "Tyr4886", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NMY->NMC).", "chr_id": "1", "chr_pos": "44100228", "evidence": [ { "id": "rs234496620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234496620" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEV2-1", "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 (SGS->NGS).", "chr_id": "1", "chr_pos": "44118557", "evidence": [ { "id": "rs33489200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33489200" } ] } ] } ], "record_id": "A0A571BEV2-1" }, { "uniprot_canonical_ac": "A0A571BD55-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A571BD55", "url": "https://www.uniprot.org/uniprotkb/A0A571BD55" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 498, "chemical_mass": 57841.0, "gene_names": "Btbd35f26;100040458;Btbd35f26;Gm2784", "protein_name": "", "disease": [], "biological_process": [ { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "A0A571BD55", "url": "https://www.uniprot.org/uniprotkb/A0A571BD55" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A571BD55-1" }, { "uniprot_canonical_ac": "A0A571BEL3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A571BEL3", "url": "https://www.uniprot.org/uniprotkb/A0A571BEL3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 3765, "chemical_mass": 403392.0, "gene_names": "Zfp469;Gm22;Zfp469", "protein_name": "", "disease": [ { "disease_id": "DOID:14775", "name": "brittle cornea syndrome 1", "description": "An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24.", "url": "https://disease-ontology.org/term/DOID:14775", "evidence": [ { "id": "14775", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14775" } ], "weight": 0.0 } ], "biological_process": [ { "name": "substantia propria of cornea development", "id": "GO:1903701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903701", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEL3", "url": "https://www.uniprot.org/uniprotkb/A0A571BEL3" } ], "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": "A0A571BEL3", "url": "https://www.uniprot.org/uniprotkb/A0A571BEL3" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEL3", "url": "https://www.uniprot.org/uniprotkb/A0A571BEL3" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEL3", "url": "https://www.uniprot.org/uniprotkb/A0A571BEL3" } ], "pmid": "" }, { "name": "regulation of extracellular matrix organization", "id": "GO:1903053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903053", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEL3", "url": "https://www.uniprot.org/uniprotkb/A0A571BEL3" } ], "pmid": "" }, { "name": "fibroblast proliferation", "id": "GO:0048144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048144", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEL3", "url": "https://www.uniprot.org/uniprotkb/A0A571BEL3" } ], "pmid": "" }, { "name": "extracellular matrix constituent secretion", "id": "GO:0070278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070278", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEL3", "url": "https://www.uniprot.org/uniprotkb/A0A571BEL3" } ], "pmid": "" }, { "name": "gene expression involved in extracellular matrix organization", "id": "GO:1901148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901148", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEL3", "url": "https://www.uniprot.org/uniprotkb/A0A571BEL3" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A571BEL3", "url": "https://www.uniprot.org/uniprotkb/A0A571BEL3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A571BEL3-1", "start_pos": "1095", "end_pos": "1095", "site_lbl": "Thr1095", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1095, "start_aa": "Thr", "end_pos": 1095, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1095", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEL3-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Thr180", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 180, "start_aa": "Thr", "end_pos": 180, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr180", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEL3-1", "start_pos": "1977", "end_pos": "1977", "site_lbl": "Thr1977", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1977, "start_aa": "Thr", "end_pos": 1977, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1977", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEL3-1", "start_pos": "3112", "end_pos": "3112", "site_lbl": "Thr3112", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3112, "start_aa": "Thr", "end_pos": 3112, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3112", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEL3-1", "start_pos": "3330", "end_pos": "3330", "site_lbl": "Thr3330", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3330, "start_aa": "Thr", "end_pos": 3330, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3330", "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": "122996793", "evidence": [ { "id": "rs228119215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228119215" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEL3-1", "start_pos": "3565", "end_pos": "3565", "site_lbl": "Thr3565", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3565, "start_aa": "Thr", "end_pos": 3565, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr3565", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEL3-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Thr387", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 387, "start_aa": "Thr", "end_pos": 387, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr387", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A0A571BEL3-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Thr409", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 409, "start_aa": "Thr", "end_pos": 409, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr409", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "A0A571BEL3-1" }, { "uniprot_canonical_ac": "A0A668KLT6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A668KLT6", "url": "https://www.uniprot.org/uniprotkb/A0A668KLT6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 296, "chemical_mass": 32643.0, "gene_names": "Gm7592;EG665338;Gm7592", "protein_name": "", "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": "A0A668KLT6", "url": "https://www.uniprot.org/uniprotkb/A0A668KLT6" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A668KLT6", "url": "https://www.uniprot.org/uniprotkb/A0A668KLT6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A668KLT6-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Thr160", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 160, "start_aa": "Thr", "end_pos": 160, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr160", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "A0A668KLT6-1" }, { "uniprot_canonical_ac": "A0A6I8MWZ3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A6I8MWZ3", "url": "https://www.uniprot.org/uniprotkb/A0A6I8MWZ3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 40, "chemical_mass": 4219.0, "gene_names": "Gm56820", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A6I8MWZ3-1" }, { "uniprot_canonical_ac": "A0A668KLV5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A668KLV5", "url": "https://www.uniprot.org/uniprotkb/A0A668KLV5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 40, "chemical_mass": 4285.0, "gene_names": "Carlr", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A668KLV5-1" }, { "uniprot_canonical_ac": "O35926-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 369, "chemical_mass": 38924.0, "gene_names": "Cdk5r2;B230310J22Rik;Cdk5r2;Nck5ai;p39", "protein_name": "Cyclin-dependent kinase 5 activator 2", "disease": [ { "disease_id": "DOID:0050453", "name": "lissencephaly", "description": "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.", "url": "https://disease-ontology.org/term/DOID:0050453", "evidence": [ { "id": "0050453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050453" } ], "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: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 } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase activator activity", "id": "GO:0061575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061575", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "protein kinase 5 complex", "id": "GO:0016533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016533", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" } ], "biological_process": [ { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "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": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "layer formation in cerebral cortex", "id": "GO:0021819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021819", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "regulation of cytoskeleton organization", "id": "GO:0051493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051493", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "positive regulation of calcium ion-dependent exocytosis", "id": "GO:0045956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045956", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" }, { "name": "superior olivary nucleus maturation", "id": "GO:0021722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021722", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35926-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Thr127", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 127, "start_aa": "Thr", "end_pos": 127, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr127", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O35926-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Thr84", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35926", "url": "https://www.uniprot.org/uniprotkb/O35926" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35926", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35926" } ] } ] } ], "record_id": "O35926-1" }, { "uniprot_canonical_ac": "P51683-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 373, "chemical_mass": 42783.0, "gene_names": "Ccr2;Cc-ckr-2;Ccr2a;Ccr2b;Ccr2;Ckr2a;Ckr2b;Ckr2;Cmkbr2;mJe-r", "protein_name": "C-C chemokine receptor type 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: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:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "weight": 0.0 }, { "disease_id": "DOID:0080745", "name": "polymyositis", "description": "A myositis that is characterized by muscle weakness affecting both sides of your body.", "url": "https://disease-ontology.org/term/DOID:0080745", "evidence": [ { "id": "0080745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080745" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:10871", "name": "age related macular degeneration", "description": "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.", "url": "https://disease-ontology.org/term/DOID:10871", "evidence": [ { "id": "10871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10871" } ], "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:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "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:12574", "name": "posterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12574", "evidence": [ { "id": "12574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12574" } ], "weight": 0.0 }, { "disease_id": "DOID:12732", "name": "intermediate uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12732", "evidence": [ { "id": "12732", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12732" } ], "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: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:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "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: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: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: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: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:4617", "name": "periapical granuloma", "description": "", "url": "https://disease-ontology.org/term/DOID:4617", "evidence": [ { "id": "4617", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4617" } ], "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: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: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:8683", "name": "myeloid sarcoma", "description": "", "url": "https://disease-ontology.org/term/DOID:8683", "evidence": [ { "id": "8683", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8683" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9008", "name": "psoriatic arthritis", "description": "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.", "url": "https://disease-ontology.org/term/DOID:9008", "evidence": [ { "id": "9008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9008" } ], "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 } ], "biological_process": [ { "name": "positive regulation of leukocyte tethering or rolling", "id": "GO:1903238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903238", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "cellular homeostasis", "id": "GO:0019725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019725", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotaxis", "id": "GO:0090026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090026", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "cellular defense response", "id": "GO:0006968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006968", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "regulation of T cell differentiation", "id": "GO:0045580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045580", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of p38MAPK cascade", "id": "GO:1900745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900745", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "apoptotic cell clearance", "id": "GO:0043277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043277", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "monocyte chemotaxis", "id": "GO:0002548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002548", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "neutrophil clearance", "id": "GO:0097350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097350", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "regulation of T cell cytokine production", "id": "GO:0002724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002724", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of thymocyte migration", "id": "GO:2000412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000412", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of alpha-beta T cell proliferation", "id": "GO:0046641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046641", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of immune complex clearance by monocytes and macrophages", "id": "GO:0090265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090265", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of T-helper 1 type immune response", "id": "GO:0002827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002827", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "T-helper 17 cell chemotaxis", "id": "GO:0035705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035705", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "negative regulation of eosinophil degranulation", "id": "GO:0043310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043310", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of monocyte extravasation", "id": "GO:2000439", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000439", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of CD8-positive, alpha-beta T cell extravasation", "id": "GO:2000451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000451", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of astrocyte chemotaxis", "id": "GO:2000464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000464", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of hematopoietic stem cell migration", "id": "GO:2000473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000473", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "leukocyte adhesion to vascular endothelial cell", "id": "GO:0061756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061756", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "macrophage migration", "id": "GO:1905517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905517", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "positive regulation of glutamate receptor signaling pathway", "id": "GO:1900451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900451", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "monocyte extravasation", "id": "GO:0035696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035696", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "inflammatory response to wounding", "id": "GO:0090594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090594", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "primary dendrite", "id": "GO:0150001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150001", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "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": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "cytokine binding", "id": "GO:0019955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019955", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "chemokine (C-C motif) ligand 5 binding", "id": "GO:0071791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071791", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "CCR2 chemokine receptor binding", "id": "GO:0031727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031727", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "chemokine (C-C motif) ligand 7 binding", "id": "GO:0035717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035717", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "chemokine (C-C motif) ligand 2 binding", "id": "GO:0035715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035715", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" }, { "name": "chemokine (C-C motif) ligand 12 binding", "id": "GO:0035716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035716", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P51683-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Tyr152", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51683", "url": "https://www.uniprot.org/uniprotkb/P51683" } ] } ] } ], "record_id": "P51683-1" }, { "uniprot_canonical_ac": "Q8BGU5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 341, "chemical_mass": 39395.0, "gene_names": "Ccny;1700025H17Rik;3110050L10Rik;4631402G10Rik;5730405I09Rik;Ccny;Cfp1", "protein_name": "Cyclin-Y", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ], "pmid": "" }, { "name": "cytoplasmic cyclin-dependent protein kinase holoenzyme complex", "id": "GO:0000308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000308", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ], "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": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase regulator activity", "id": "GO:0016538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016538", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase activator activity", "id": "GO:0061575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061575", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ], "pmid": "" } ], "biological_process": [ { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ], "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": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ], "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": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ], "pmid": "" }, { "name": "positive regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0045737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045737", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Asn3", "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": "MGNTTSCCVSSSPK", "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": "Q8BGU5-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Ser100", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Ser102", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ser21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Ser25", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Ser280", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BGU5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "288", "end_pos": "288", "site_lbl": "Ser288", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Ser295", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Thr30", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Ser324", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Ser326", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" }, { "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": "Q8BGU5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Ser33", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Thr37", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Thr67", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Ser71", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Ser73", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Thr75", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Ser83", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Ser99", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU5", "url": "https://www.uniprot.org/uniprotkb/Q8BGU5" } ] } ] }, { "uniprot_canonical_ac": "Q8BGU5-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Ile190", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IVT->NVT).", "chr_id": "18", "chr_pos": "9345204", "evidence": [ { "id": "rs3389480835", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389480835" } ] } ] } ], "record_id": "Q8BGU5-1" }, { "uniprot_canonical_ac": "Q9QWK4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QWK4", "url": "https://www.uniprot.org/uniprotkb/Q9QWK4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 352, "chemical_mass": 38863.0, "gene_names": "Cd5l;1/6;AAC-11;AIM;Aim;Api6;CT2;Cd5l;Pdp;Sp-alpha;mAIM", "protein_name": "CD5 antigen-like", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9QWK4", "url": "https://www.uniprot.org/uniprotkb/Q9QWK4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QWK4", "url": "https://www.uniprot.org/uniprotkb/Q9QWK4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9QWK4", "url": "https://www.uniprot.org/uniprotkb/Q9QWK4" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9QWK4", "url": "https://www.uniprot.org/uniprotkb/Q9QWK4" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q9QWK4", "url": "https://www.uniprot.org/uniprotkb/Q9QWK4" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9QWK4", "url": "https://www.uniprot.org/uniprotkb/Q9QWK4" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "Q9QWK4", "url": "https://www.uniprot.org/uniprotkb/Q9QWK4" } ], "pmid": "" }, { "name": "regulation of complement activation", "id": "GO:0030449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030449", "evidence": [ { "database": "UniProtKB", "id": "Q9QWK4", "url": "https://www.uniprot.org/uniprotkb/Q9QWK4" } ], "pmid": "" }, { "name": "positive regulation of complement-dependent cytotoxicity", "id": "GO:1903661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903661", "evidence": [ { "database": "UniProtKB", "id": "Q9QWK4", "url": "https://www.uniprot.org/uniprotkb/Q9QWK4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QWK4-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Asn229", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "Q9QWK4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QWK4#ptm_processing" }, { "id": "23236605", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23236605" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "Decreased glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9QWK4", "url": "https://www.uniprot.org/uniprotkb/Q9QWK4" }, { "database": "PubMed", "id": "23236605", "url": "https://glygen.org/publication/PubMed/23236605" } ] } ] }, { "uniprot_canonical_ac": "Q9QWK4-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Asn99", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "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": "Q9QWK4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9QWK4#ptm_processing" }, { "id": "23236605", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23236605" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "Decreased glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9QWK4", "url": "https://www.uniprot.org/uniprotkb/Q9QWK4" }, { "database": "PubMed", "id": "23236605", "url": "https://glygen.org/publication/PubMed/23236605" } ] } ] }, { "uniprot_canonical_ac": "Q9QWK4-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Asn197", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKN->NKS).", "chr_id": "3", "chr_pos": "87275052", "evidence": [ { "id": "rs48975916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48975916" } ] } ] }, { "uniprot_canonical_ac": "Q9QWK4-1", "start_pos": "335", "end_pos": "335", "site_lbl": "His335", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HDC->NDC).", "chr_id": "3", "chr_pos": "87276034", "evidence": [ { "id": "rs239825063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239825063" } ] } ] }, { "uniprot_canonical_ac": "Q9QWK4-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Cys194", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Abolishes interaction with IgM.", "evidence": [ { "database": "UniProtKB", "id": "Q9QWK4", "url": "https://www.uniprot.org/uniprotkb/Q9QWK4" }, { "database": "PubMed", "id": "30324136", "url": "https://glygen.org/publication/PubMed/30324136" } ] } ] }, { "uniprot_canonical_ac": "Q9QWK4-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Asn316", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "Does not affect glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9QWK4", "url": "https://www.uniprot.org/uniprotkb/Q9QWK4" }, { "database": "PubMed", "id": "23236605", "url": "https://glygen.org/publication/PubMed/23236605" } ] } ] } ], "record_id": "Q9QWK4-1" }, { "uniprot_canonical_ac": "P25918-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 547, "chemical_mass": 60149.0, "gene_names": "Cd19;Cd19", "protein_name": "B-lymphocyte antigen CD19", "disease": [ { "disease_id": "DOID:0081146", "name": "common variable immunodeficiency 3", "description": "A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2.", "url": "https://disease-ontology.org/term/DOID:0081146", "evidence": [ { "id": "0081146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081146" } ], "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": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ], "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": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ], "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": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ], "pmid": "" }, { "name": "B cell receptor signaling pathway", "id": "GO:0050853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050853", "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ], "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": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ], "pmid": "" }, { "name": "immunoglobulin mediated immune response", "id": "GO:0016064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016064", "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ], "pmid": "" }, { "name": "antigen receptor-mediated signaling pathway", "id": "GO:0050851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050851", "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ], "pmid": "" }, { "name": "B cell proliferation", "id": "GO:0042100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042100", "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ], "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": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ], "pmid": "" }, { "name": "B cell mediated immunity", "id": "GO:0019724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019724", "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ], "pmid": "" }, { "name": "regulation of B cell activation", "id": "GO:0050864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050864", "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ], "pmid": "" }, { "name": "B-1 B cell differentiation", "id": "GO:0001923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001923", "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P25918-1", "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": "P25918", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P25918#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P25918-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Asn138", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "P25918", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P25918#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P25918-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Asn177", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 177, "start_aa": "Asn", "end_pos": 177, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn177", "evidence": [ { "id": "P25918", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P25918#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P25918-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Asn220", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "P25918", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P25918#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P25918-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Asn263", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 263, "start_aa": "Asn", "end_pos": 263, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn263", "evidence": [ { "id": "P25918", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P25918#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P25918-1", "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": "P25918", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P25918#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P25918-1", "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": "P25918", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P25918#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P25918-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Ser225", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" }, { "database": "PubMed", "id": "15378723", "url": "https://glygen.org/publication/PubMed/15378723" }, { "database": "iPTMnet", "id": "P25918", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P25918" } ] } ] }, { "uniprot_canonical_ac": "P25918-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Tyr346", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ] } ] }, { "uniprot_canonical_ac": "P25918-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Tyr376", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ] } ] }, { "uniprot_canonical_ac": "P25918-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Tyr402", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" }, { "database": "PubMed", "id": "20101619", "url": "https://glygen.org/publication/PubMed/20101619" }, { "database": "iPTMnet", "id": "P25918", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P25918" } ] } ] }, { "uniprot_canonical_ac": "P25918-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Tyr432", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" } ] } ] }, { "uniprot_canonical_ac": "P25918-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Tyr493", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P25911-1", "kinase_gene_name": "Lyn", "evidence": [ { "database": "iPTMnet", "id": "P25918", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P25918" }, { "database": "PubMed", "id": "10933394", "url": "https://glygen.org/publication/PubMed/10933394" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" }, { "database": "PubMed", "id": "20101619", "url": "https://glygen.org/publication/PubMed/20101619" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P25918", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P25918" } ] } ] }, { "uniprot_canonical_ac": "P25918-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Tyr501", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P00520-1", "kinase_gene_name": "Abl1", "evidence": [ { "database": "iPTMnet", "id": "P25918", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P25918" }, { "database": "PubMed", "id": "11120811", "url": "https://glygen.org/publication/PubMed/11120811" } ] } ] }, { "uniprot_canonical_ac": "P25918-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Tyr522", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P25911-1", "kinase_gene_name": "Lyn", "evidence": [ { "database": "iPTMnet", "id": "P25918", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P25918" }, { "database": "PubMed", "id": "10933394", "url": "https://glygen.org/publication/PubMed/10933394" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P25918", "url": "https://www.uniprot.org/uniprotkb/P25918" }, { "database": "PubMed", "id": "20101619", "url": "https://glygen.org/publication/PubMed/20101619" }, { "database": "iPTMnet", "id": "P25918", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P25918" } ] } ] } ], "record_id": "P25918-1" }, { "uniprot_canonical_ac": "P10300-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P10300", "url": "https://www.uniprot.org/uniprotkb/P10300" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 213, "chemical_mass": 24288.0, "gene_names": "Cd8b;Cd8b1;Cd8b;Ly-3;Ly-C;Lyt-3;Lyt3", "protein_name": "T-cell surface glycoprotein CD8 beta chain", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P10300", "url": "https://www.uniprot.org/uniprotkb/P10300" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P10300", "url": "https://www.uniprot.org/uniprotkb/P10300" } ], "pmid": "" } ], "molecular_function": [ { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "P10300", "url": "https://www.uniprot.org/uniprotkb/P10300" } ], "pmid": "" }, { "name": "MHC class I protein binding", "id": "GO:0042288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042288", "evidence": [ { "database": "UniProtKB", "id": "P10300", "url": "https://www.uniprot.org/uniprotkb/P10300" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of immune response", "id": "GO:0050776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050776", "evidence": [ { "database": "UniProtKB", "id": "P10300", "url": "https://www.uniprot.org/uniprotkb/P10300" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "P10300", "url": "https://www.uniprot.org/uniprotkb/P10300" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P10300-1", "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=2ATP&bu=0&command=select+.D:13;+center+selection;+zoom+selection" }, "start_pos": 34, "start_aa": "Asn", "end_pos": 34, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn34", "evidence": [ { "id": "P10300", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10300#ptm_processing" }, { "id": "2ATP", "database": "PDB", "url": "https://www.rcsb.org/structure/2ATP" }, { "id": "2ATP", "database": "PDB", "url": "https://www.rcsb.org/structure/2ATP" }, { "id": "2ATP|D|13", "database": "", "url": "" } ] } ] } ], "record_id": "P10300-1" }, { "uniprot_canonical_ac": "Q07763-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 397, "chemical_mass": 44836.0, "gene_names": "Cd244;2B4;2b4;C9.1;Cd244a;Cd244;F730046O15Rik;Ly90;NAIL;NKR2B4;Nmrk;SLAMF4", "protein_name": "Natural killer cell receptor 2B4", "disease": [ { "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": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" } ], "pmid": "" }, { "name": "positive regulation of CD8-positive, alpha-beta T cell proliferation", "id": "GO:2000566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000566", "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" } ], "pmid": "" }, { "name": "myeloid dendritic cell activation", "id": "GO:0001773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001773", "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" } ], "pmid": "" }, { "name": "natural killer cell activation involved in immune response", "id": "GO:0002323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002323", "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell proliferation", "id": "GO:0032819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032819", "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" } ], "pmid": "" } ], "molecular_function": [ { "name": "MHC class I protein binding", "id": "GO:0042288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042288", "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q07763-1", "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": "Q07763", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q07763#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q07763-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Asn161", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q07763", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q07763#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q07763-1", "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": "Q07763", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q07763#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q07763-1", "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": "Q07763", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q07763#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVS->SVS).", "chr_id": "1", "chr_pos": "171401865", "evidence": [ { "id": "rs1134888433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134888433" } ] } ] }, { "uniprot_canonical_ac": "Q07763-1", "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": "Q07763", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q07763#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NHT->KHT).", "chr_id": "1", "chr_pos": "171401893", "evidence": [ { "id": "rs3539927254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539927254" } ] } ] }, { "uniprot_canonical_ac": "Q07763-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Asn210", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q07763", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q07763#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NFT->IFT).", "chr_id": "1", "chr_pos": "171401904", "evidence": [ { "id": "rs3390986931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3390986931" } ] } ] }, { "uniprot_canonical_ac": "Q07763-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Asn78", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 78, "start_aa": "Asn", "end_pos": 78, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn78", "evidence": [ { "id": "Q07763", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q07763#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVS->TVS).", "chr_id": "1", "chr_pos": "171401420", "evidence": [ { "id": "rs585583480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs585583480" } ] } ] }, { "uniprot_canonical_ac": "Q07763-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Tyr266", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" }, { "database": "PubMed", "id": "15169881", "url": "https://glygen.org/publication/PubMed/15169881" }, { "database": "iPTMnet", "id": "Q07763", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07763" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Decreases downstream phosphorylation of CBL and VAV1. Abolishes downstream phosphorylation of CBL and VAV1; when associated with F-325, F-344 and F-369.", "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" }, { "database": "PubMed", "id": "15169881", "url": "https://glygen.org/publication/PubMed/15169881" } ] } ] }, { "uniprot_canonical_ac": "Q07763-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Tyr325", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" }, { "database": "iPTMnet", "id": "Q07763", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07763" }, { "database": "PubMed", "id": "15169881", "url": "https://glygen.org/publication/PubMed/15169881" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes downstream phosphorylation of CBL and VAV1; when associated with F-266, F-344 and F-369. Weakly decreases downstream phosphorylation of CBL and VAV1; when associated with F-344 and F-369.", "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" }, { "database": "PubMed", "id": "15169881", "url": "https://glygen.org/publication/PubMed/15169881" } ] } ] }, { "uniprot_canonical_ac": "Q07763-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Tyr344", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" }, { "database": "PubMed", "id": "15169881", "url": "https://glygen.org/publication/PubMed/15169881" }, { "database": "iPTMnet", "id": "Q07763", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07763" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes downstream phosphorylation of CBL and VAV1; when associated with F-266, F-325 and F-369. Weakly decreases downstream phosphorylation of CBL and VAV1; when associated with F-325 and F-369.", "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" }, { "database": "PubMed", "id": "15169881", "url": "https://glygen.org/publication/PubMed/15169881" } ] } ] }, { "uniprot_canonical_ac": "Q07763-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Tyr369", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" }, { "database": "iPTMnet", "id": "Q07763", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07763" }, { "database": "PubMed", "id": "15169881", "url": "https://glygen.org/publication/PubMed/15169881" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes downstream phosphorylation of CBL and VAV1; when associated with F-266, F-325 and F-344. Weakly decreases downstream phosphorylation of CBL and VAV1; when associated with F-325 and F-344.", "evidence": [ { "database": "UniProtKB", "id": "Q07763", "url": "https://www.uniprot.org/uniprotkb/Q07763" }, { "database": "PubMed", "id": "15169881", "url": "https://glygen.org/publication/PubMed/15169881" } ] } ] }, { "uniprot_canonical_ac": "Q07763-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Gly115", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTG->NTS).", "chr_id": "1", "chr_pos": "171401530", "evidence": [ { "id": "rs1132042825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132042825" } ] } ] }, { "uniprot_canonical_ac": "Q07763-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Thr180", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NST->NSA).", "chr_id": "1", "chr_pos": "171401813", "evidence": [ { "id": "rs3539933951", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539933951" } ] } ] }, { "uniprot_canonical_ac": "Q07763-1", "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: n-glyco-sequon-gain (NQI->NQT).", "chr_id": "1", "chr_pos": "171401832", "evidence": [ { "id": "rs108393402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs108393402" } ] } ] }, { "uniprot_canonical_ac": "Q07763-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Ser365", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SCT->NCT).", "chr_id": "1", "chr_pos": "171409248", "evidence": [ { "id": "rs1134899307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134899307" } ] } ] }, { "uniprot_canonical_ac": "Q07763-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Tyr70", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NWY->NWC).", "chr_id": "1", "chr_pos": "171401396", "evidence": [ { "id": "rs31537914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31537914" } ] } ] }, { "uniprot_canonical_ac": "Q07763-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Gly73", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDG->NDS).", "chr_id": "1", "chr_pos": "171401404", "evidence": [ { "id": "rs3539925029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539925029" } ] } ] }, { "uniprot_canonical_ac": "Q07763-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Ser80", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVS->NVA).", "chr_id": "1", "chr_pos": "171401425", "evidence": [ { "id": "rs582189928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582189928" } ] }, { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVS->NVF).", "chr_id": "1", "chr_pos": "171401426", "evidence": [ { "id": "rs1132802274", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132802274" } ] } ] } ], "record_id": "Q07763-1" }, { "uniprot_canonical_ac": "Q91Z58-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91Z58", "url": "https://www.uniprot.org/uniprotkb/Q91Z58" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1206, "chemical_mass": 127881.0, "gene_names": "AI661453", "protein_name": "Uncharacterized protein C6orf132 homolog", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91Z58-1", "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": "Q91Z58-1", "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": "Q91Z58-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Thr303", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 303, "start_aa": "Thr", "end_pos": 303, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr303", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91Z58-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Thr490", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 490, "start_aa": "Thr", "end_pos": 490, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr490", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91Z58-1", "start_pos": "650", "end_pos": "650", "site_lbl": "Thr650", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 650, "start_aa": "Thr", "end_pos": 650, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr650", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91Z58-1", "start_pos": "725", "end_pos": "725", "site_lbl": "Thr725", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 725, "start_aa": "Thr", "end_pos": 725, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr725", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91Z58-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Thr96", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 96, "start_aa": "Thr", "end_pos": 96, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr96", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91Z58-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Ser255", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91Z58", "url": "https://www.uniprot.org/uniprotkb/Q91Z58" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "Q91Z58-1", "start_pos": "680", "end_pos": "680", "site_lbl": "Thr680", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91Z58", "url": "https://www.uniprot.org/uniprotkb/Q91Z58" } ] } ] } ], "record_id": "Q91Z58-1" }, { "uniprot_canonical_ac": "Q9Z0F5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 298, "chemical_mass": 34672.0, "gene_names": "Ch25h;Ch25h;m25OH", "protein_name": "Cholesterol 25-hydroxylase", "disease": [], "molecular_function": [ { "name": "C-4 methylsterol oxidase activity", "id": "GO:0000254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000254", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F5" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F5" } ], "pmid": "" }, { "name": "steroid hydroxylase activity", "id": "GO:0008395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008395", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F5" } ], "pmid": "" }, { "name": "cholesterol 25-hydroxylase activity", "id": "GO:0001567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001567", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F5" } ], "pmid": "" } ], "biological_process": [ { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F5" } ], "pmid": "" }, { "name": "sterol biosynthetic process", "id": "GO:0016126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016126", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F5" } ], "pmid": "" }, { "name": "B cell chemotaxis", "id": "GO:0035754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035754", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F5" } ], "pmid": "" }, { "name": "response to type I interferon", "id": "GO:0034340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034340", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F5" } ], "pmid": "" }, { "name": "negative regulation of fusion of virus membrane with host plasma membrane", "id": "GO:1903914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903914", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F5" } ], "pmid": "" }, { "name": "negative regulation of cholesterol metabolic process", "id": "GO:0090206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090206", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F5" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F5", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z0F5-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Asn163", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q9Z0F5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F5#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0F5-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Asn5", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 5, "start_aa": "Asn", "end_pos": 5, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn5", "evidence": [ { "id": "Q9Z0F5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F5#ptm_processing" } ] } ] } ], "record_id": "Q9Z0F5-1" }, { "uniprot_canonical_ac": "P28659-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 486, "chemical_mass": 52107.0, "gene_names": "Celf1;1600010O03Rik;Brunol2;CUG-BP1;CUG-BP;CUGBP;Celf1;Cugbp1;Cugbp;D2Wsu101e;HNAB50;NAB50", "protein_name": "CUGBP Elav-like family member 1", "disease": [], "molecular_function": [ { "name": "pre-mRNA binding", "id": "GO:0036002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036002", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "BRE binding", "id": "GO:0042835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042835", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "mRNA 5'-UTR binding", "id": "GO:0048027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048027", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "translation initiation factor binding", "id": "GO:0031369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031369", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "lncRNA binding", "id": "GO:0106222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106222", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "perinucleolar compartment", "id": "GO:0097356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097356", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "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": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "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": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "regulation of RNA splicing", "id": "GO:0043484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043484", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "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": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "mRNA splice site recognition", "id": "GO:0006376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006376", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "cerebral cortex neuron differentiation", "id": "GO:0021895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021895", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "mRNA destabilization", "id": "GO:0061157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061157", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" }, { "name": "post-transcriptional gene silencing", "id": "GO:0016441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016441", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P28659-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Ser179", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ] } ] }, { "uniprot_canonical_ac": "P28659-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Ser302", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" }, { "database": "PubMed", "id": "16931514", "url": "https://glygen.org/publication/PubMed/16931514" }, { "database": "iPTMnet", "id": "P28659", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P28659" }, { "database": "PubMed", "id": "25003008", "url": "https://glygen.org/publication/PubMed/25003008" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Reduces CDK4-mediated phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" }, { "database": "PubMed", "id": "16931514", "url": "https://glygen.org/publication/PubMed/16931514" } ] } ] }, { "uniprot_canonical_ac": "P28659-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Thr4", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P28659", "url": "https://www.uniprot.org/uniprotkb/P28659" } ] } ] } ], "record_id": "P28659-1" }, { "uniprot_canonical_ac": "Q3UPL5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UPL5", "url": "https://www.uniprot.org/uniprotkb/Q3UPL5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 246, "chemical_mass": 26495.0, "gene_names": "Ag2;Gm13889;Ag2;Gm13889", "protein_name": "Uncharacterized protein C11orf96 homolog", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3UPL5", "url": "https://www.uniprot.org/uniprotkb/Q3UPL5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UPL5-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Thr179", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UPL5", "url": "https://www.uniprot.org/uniprotkb/Q3UPL5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UPL5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UPL5" } ] } ] }, { "uniprot_canonical_ac": "Q3UPL5-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Ser196", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UPL5", "url": "https://www.uniprot.org/uniprotkb/Q3UPL5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UPL5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UPL5" } ] } ] }, { "uniprot_canonical_ac": "Q3UPL5-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Ser210", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UPL5", "url": "https://www.uniprot.org/uniprotkb/Q3UPL5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UPL5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UPL5" } ] } ] }, { "uniprot_canonical_ac": "Q3UPL5-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Ser220", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UPL5", "url": "https://www.uniprot.org/uniprotkb/Q3UPL5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UPL5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UPL5" } ] } ] } ], "record_id": "Q3UPL5-1" }, { "uniprot_canonical_ac": "Q8BXK9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 251, "chemical_mass": 28287.0, "gene_names": "Clic5;5730531E12Rik;B330005L24;Clic5;Gm322;jbg;nmf318", "protein_name": "Chloride intracellular channel protein 5", "disease": [ { "disease_id": "DOID:0110464", "name": "autosomal recessive nonsyndromic deafness 103", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21.", "url": "https://disease-ontology.org/term/DOID:0110464", "evidence": [ { "id": "0110464", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110464" } ], "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": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "stereocilium bundle", "id": "GO:0032421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032421", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "stereocilium", "id": "GO:0032420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032420", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "stereocilium base", "id": "GO:0120044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120044", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" } ], "biological_process": [ { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "diet induced thermogenesis", "id": "GO:0002024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002024", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "response to dietary excess", "id": "GO:0002021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002021", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "auditory receptor cell stereocilium organization", "id": "GO:0060088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060088", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "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": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "epidermal cell differentiation", "id": "GO:0009913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009913", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" } ], "molecular_function": [ { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "Q8BXK9", "url": "https://www.uniprot.org/uniprotkb/Q8BXK9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BXK9-1" }, { "uniprot_canonical_ac": "Q8K327-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 802, "chemical_mass": 87561.0, "gene_names": "Champ1;Champ1;D8Ertd457e;D8Ertd569e;Kiaa1802;Zfp828;Znf828;mKIAA1802", "protein_name": "Chromosome alignment-maintaining phosphoprotein 1", "disease": [ { "disease_id": "DOID:0070070", "name": "autosomal dominant intellectual developmental disorder 40", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34.", "url": "https://disease-ontology.org/term/DOID:0070070", "evidence": [ { "id": "0070070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070070" } ], "weight": 0.0 } ], "biological_process": [ { "name": "attachment of mitotic spindle microtubules to kinetochore", "id": "GO:0051315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051315", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ], "pmid": "" }, { "name": "protein localization to kinetochore", "id": "GO:0034501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034501", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ], "pmid": "" }, { "name": "sister chromatid biorientation", "id": "GO:0031134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031134", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ], "pmid": "" }, { "name": "protein localization to microtubule", "id": "GO:0035372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035372", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ], "pmid": "" }, { "name": "condensed chromosome", "id": "GO:0000793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000793", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Thr127", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 127, "start_aa": "Thr", "end_pos": 127, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr127", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Thr294", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 294, "start_aa": "Thr", "end_pos": 294, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr294", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "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": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q8K327", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Ser363", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 363, "start_aa": "Ser", "end_pos": 363, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser363", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q8K327", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Ser108", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Ser204", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Ser207", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Ser234", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Ser237", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Ser243", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Ser252", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Ser254", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Ser265", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Ser272", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Ser276", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Ser298", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ser309", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "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": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Ser334", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Ser345", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Ser365", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Thr371", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Ser375", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Ser394", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Ser405", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "416", "end_pos": "416", "site_lbl": "Ser416", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Ser421", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "425", "end_pos": "425", "site_lbl": "Ser425", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Ser432", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Ser434", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Ser441", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Thr447", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Ser448", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "451", "end_pos": "451", "site_lbl": "Ser451", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Ser461", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Ser497", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Ser502", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "532", "end_pos": "532", "site_lbl": "Ser532", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "593", "end_pos": "593", "site_lbl": "Thr593", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "603", "end_pos": "603", "site_lbl": "Ser603", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "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": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "605", "end_pos": "605", "site_lbl": "Ser605", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "617", "end_pos": "617", "site_lbl": "Ser617", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "622", "end_pos": "622", "site_lbl": "Ser622", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "641", "end_pos": "641", "site_lbl": "Ser641", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "642", "end_pos": "642", "site_lbl": "Ser642", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "643", "end_pos": "643", "site_lbl": "Ser643", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8K327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Ser665", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] }, { "uniprot_canonical_ac": "Q8K327-1", "start_pos": "726", "end_pos": "726", "site_lbl": "Ser726", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K327", "url": "https://www.uniprot.org/uniprotkb/Q8K327" } ] } ] } ], "record_id": "Q8K327-1" }, { "uniprot_canonical_ac": "Q8R3J5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R3J5", "url": "https://www.uniprot.org/uniprotkb/Q8R3J5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 223, "chemical_mass": 24547.0, "gene_names": "Chac1;1810008K03Rik;Botch;Chac1", "protein_name": "Glutathione-specific gamma-glutamylcyclotransferase 1", "disease": [], "biological_process": [ { "name": "glutathione catabolic process", "id": "GO:0006751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006751", "evidence": [ { "database": "UniProtKB", "id": "Q8R3J5", "url": "https://www.uniprot.org/uniprotkb/Q8R3J5" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q8R3J5", "url": "https://www.uniprot.org/uniprotkb/Q8R3J5" } ], "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": "Q8R3J5", "url": "https://www.uniprot.org/uniprotkb/Q8R3J5" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q8R3J5", "url": "https://www.uniprot.org/uniprotkb/Q8R3J5" } ], "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": "Q8R3J5", "url": "https://www.uniprot.org/uniprotkb/Q8R3J5" } ], "pmid": "" }, { "name": "response to caloric restriction", "id": "GO:0061771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061771", "evidence": [ { "database": "UniProtKB", "id": "Q8R3J5", "url": "https://www.uniprot.org/uniprotkb/Q8R3J5" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "Q8R3J5", "url": "https://www.uniprot.org/uniprotkb/Q8R3J5" } ], "pmid": "" }, { "name": "negative regulation of protein processing", "id": "GO:0010955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010955", "evidence": [ { "database": "UniProtKB", "id": "Q8R3J5", "url": "https://www.uniprot.org/uniprotkb/Q8R3J5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R3J5", "url": "https://www.uniprot.org/uniprotkb/Q8R3J5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8R3J5", "url": "https://www.uniprot.org/uniprotkb/Q8R3J5" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q8R3J5", "url": "https://www.uniprot.org/uniprotkb/Q8R3J5" } ], "pmid": "" } ], "molecular_function": [ { "name": "Notch binding", "id": "GO:0005112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005112", "evidence": [ { "database": "UniProtKB", "id": "Q8R3J5", "url": "https://www.uniprot.org/uniprotkb/Q8R3J5" } ], "pmid": "" }, { "name": "glutathione specific gamma-glutamylcyclotransferase activity", "id": "GO:0061928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061928", "evidence": [ { "database": "UniProtKB", "id": "Q8R3J5", "url": "https://www.uniprot.org/uniprotkb/Q8R3J5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R3J5-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Glu116", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Loss of catalytic activity against glutathione.", "evidence": [ { "database": "UniProtKB", "id": "Q8R3J5", "url": "https://www.uniprot.org/uniprotkb/Q8R3J5" }, { "database": "PubMed", "id": "23070364", "url": "https://glygen.org/publication/PubMed/23070364" } ] } ] } ], "record_id": "Q8R3J5-1" }, { "uniprot_canonical_ac": "Q9DA19-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 450, "chemical_mass": 51838.0, "gene_names": "Cirsr;1700023B02Rik;2810021A19Rik;Cicr;Cir1;Cirsr;Cir", "protein_name": "Corepressor of RBPJ and splicing regulator", "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": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "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": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "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": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "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": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DA19-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Ser202", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DA19", "url": "https://www.uniprot.org/uniprotkb/Q9DA19" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DA19", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DA19" } ] } ] } ], "record_id": "Q9DA19-1" }, { "uniprot_canonical_ac": "Q9R0A1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 908, "chemical_mass": 99447.0, "gene_names": "Clcn2;ClC-2;Clc2;Clcn2;nmf240", "protein_name": "Chloride channel protein 2", "disease": [ { "disease_id": "DOID:10579", "name": "leukodystrophy", "description": "A cerebral degeneration characterized by dysfunction of the white matter of the brain.", "url": "https://disease-ontology.org/term/DOID:10579", "evidence": [ { "id": "10579", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10579" } ], "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: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:446", "name": "primary hyperaldosteronism", "description": "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:446", "evidence": [ { "id": "446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:446" } ], "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": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "positive regulation of voltage-gated chloride channel activity", "id": "GO:1902943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902943", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "stabilization of membrane potential", "id": "GO:0030322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030322", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte differentiation", "id": "GO:0048714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048714", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "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": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "regulation of resting membrane potential", "id": "GO:0060075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060075", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "regulation of membrane depolarization during action potential", "id": "GO:0098902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098902", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "cell differentiation involved in salivary gland development", "id": "GO:0060689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060689", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "regulation of aldosterone biosynthetic process", "id": "GO:0032347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032347", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" } ], "molecular_function": [ { "name": "volume-sensitive chloride channel activity", "id": "GO:0072320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072320", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "chloride channel regulator activity", "id": "GO:0017081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017081", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "voltage-gated chloride channel activity", "id": "GO:0005247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005247", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "voltage-gated monoatomic anion channel activity", "id": "GO:0008308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008308", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "chloride transmembrane transporter activity", "id": "GO:0015108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015108", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "axon initial segment", "id": "GO:0043194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043194", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "astrocyte end-foot", "id": "GO:0097450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097450", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "dendritic spine membrane", "id": "GO:0032591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032591", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "monoatomic ion channel complex", "id": "GO:0034702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034702", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R0A1-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Asn411", "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": 411, "start_aa": "Asn", "end_pos": 411, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn411", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2209", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2209" } ] }, { "glytoucan_ac": "G72747WU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ETLVTLFDNR", "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": "Q9R0A1-1", "start_pos": "899", "end_pos": "899", "site_lbl": "Thr899", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 899, "start_aa": "Thr", "end_pos": 899, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr899", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9R0A1-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Thr28", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9R0A1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9R0A1" } ] } ] }, { "uniprot_canonical_ac": "Q9R0A1-1", "start_pos": "768", "end_pos": "768", "site_lbl": "Ser768", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" } ] } ] }, { "uniprot_canonical_ac": "Q9R0A1-1", "start_pos": "538", "end_pos": "538", "site_lbl": "His538", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "F", "comment": "Results in increased channel conductance at acidic pH.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0A1", "url": "https://www.uniprot.org/uniprotkb/Q9R0A1" }, { "database": "PubMed", "id": "26666914", "url": "https://glygen.org/publication/PubMed/26666914" } ] } ] } ], "record_id": "Q9R0A1-1" }, { "uniprot_canonical_ac": "O35454-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35454", "url": "https://www.uniprot.org/uniprotkb/O35454" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 870, "chemical_mass": 96980.0, "gene_names": "Clcn6;Clc6;Clcn6", "protein_name": "H(+)/Cl(-) exchange transporter 6", "disease": [ { "disease_id": "DOID:0061189", "name": "neuronal ceroid lipofuscinosis 15", "description": "A neuronal ceroid lipofuscinosis that is characterized by severe global developmental delay apparent in infancy or early childhood and that has_material_basis_in heterozygous mutation in the CLCN6 gene on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0061189", "evidence": [ { "id": "0061189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061189" } ], "weight": 0.0 }, { "disease_id": "DOID:0110731", "name": "neuronal ceroid lipofuscinosis 3", "description": "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.", "url": "https://disease-ontology.org/term/DOID:0110731", "evidence": [ { "id": "0110731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110731" } ], "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 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O35454", "url": "https://www.uniprot.org/uniprotkb/O35454" } ], "pmid": "" }, { "name": "antiporter activity", "id": "GO:0015297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "database": "UniProtKB", "id": "O35454", "url": "https://www.uniprot.org/uniprotkb/O35454" } ], "pmid": "" }, { "name": "voltage-gated chloride channel activity", "id": "GO:0005247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005247", "evidence": [ { "database": "UniProtKB", "id": "O35454", "url": "https://www.uniprot.org/uniprotkb/O35454" } ], "pmid": "" } ], "cellular_component": [ { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "O35454", "url": "https://www.uniprot.org/uniprotkb/O35454" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O35454", "url": "https://www.uniprot.org/uniprotkb/O35454" } ], "pmid": "" } ], "biological_process": [ { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "O35454", "url": "https://www.uniprot.org/uniprotkb/O35454" } ], "pmid": "" }, { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "O35454", "url": "https://www.uniprot.org/uniprotkb/O35454" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35454-1", "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": "O35454", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35454#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35454-1", "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": "O35454", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35454#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NST->YST).", "chr_id": "4", "chr_pos": "148099066", "evidence": [ { "id": "rs3388737532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388737532" } ] } ] }, { "uniprot_canonical_ac": "O35454-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Asn433", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 433, "start_aa": "Asn", "end_pos": 433, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn433", "evidence": [ { "id": "O35454", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35454#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35454-1", "start_pos": "853", "end_pos": "853", "site_lbl": "Asn853", "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": "HNLTNEFLQAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 853, "start_aa": "Asn", "end_pos": 853, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn853", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "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 (NLT->ILT).", "chr_id": "4", "chr_pos": "148091293", "evidence": [ { "id": "rs3388735459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388735459" } ] } ] }, { "uniprot_canonical_ac": "O35454-1", "start_pos": "774", "end_pos": "774", "site_lbl": "Ser774", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35454", "url": "https://www.uniprot.org/uniprotkb/O35454" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O35454", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O35454" } ] } ] } ], "record_id": "O35454-1" }, { "uniprot_canonical_ac": "O88551-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 211, "chemical_mass": 22881.0, "gene_names": "Cldn1;Cldn1", "protein_name": "Claudin-1", "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: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: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: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: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: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: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: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: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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "tight junction", "id": "GO:0070160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070160", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "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": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "protein complex oligomerization", "id": "GO:0051259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051259", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "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": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "bicellular tight junction assembly", "id": "GO:0070830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070830", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "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": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "establishment of endothelial intestinal barrier", "id": "GO:0090557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090557", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "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": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "cellular response to lead ion", "id": "GO:0071284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071284", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "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": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "establishment of blood-nerve barrier", "id": "GO:0008065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008065", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "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": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "xenobiotic transport across blood-nerve barrier", "id": "GO:0061772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061772", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "response to interleukin-18", "id": "GO:0070673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070673", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "response to dexamethasone", "id": "GO:0071548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071548", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "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": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "cellular response to butyrate", "id": "GO:1903545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903545", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "cell junction maintenance", "id": "GO:0034331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034331", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "O88551", "url": "https://www.uniprot.org/uniprotkb/O88551" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88551-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Thr203", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 203, "start_aa": "Thr", "end_pos": 203, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr203", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "O88551-1" }, { "uniprot_canonical_ac": "Q5XJY5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5XJY5", "url": "https://www.uniprot.org/uniprotkb/Q5XJY5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 511, "chemical_mass": 57229.0, "gene_names": "Arcn1;4632432M07Rik;Arcn1;Copd;nur17", "protein_name": "Coatomer subunit delta", "disease": [], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q5XJY5", "url": "https://www.uniprot.org/uniprotkb/Q5XJY5" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q5XJY5", "url": "https://www.uniprot.org/uniprotkb/Q5XJY5" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q5XJY5", "url": "https://www.uniprot.org/uniprotkb/Q5XJY5" } ], "pmid": "" }, { "name": "COPI-coated vesicle", "id": "GO:0030137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030137", "evidence": [ { "database": "UniProtKB", "id": "Q5XJY5", "url": "https://www.uniprot.org/uniprotkb/Q5XJY5" } ], "pmid": "" }, { "name": "COPI vesicle coat", "id": "GO:0030126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030126", "evidence": [ { "database": "UniProtKB", "id": "Q5XJY5", "url": "https://www.uniprot.org/uniprotkb/Q5XJY5" } ], "pmid": "" } ], "biological_process": [ { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q5XJY5", "url": "https://www.uniprot.org/uniprotkb/Q5XJY5" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q5XJY5", "url": "https://www.uniprot.org/uniprotkb/Q5XJY5" } ], "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": "Q5XJY5", "url": "https://www.uniprot.org/uniprotkb/Q5XJY5" } ], "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": "Q5XJY5", "url": "https://www.uniprot.org/uniprotkb/Q5XJY5" } ], "pmid": "" }, { "name": "pigmentation", "id": "GO:0043473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "evidence": [ { "database": "UniProtKB", "id": "Q5XJY5", "url": "https://www.uniprot.org/uniprotkb/Q5XJY5" } ], "pmid": "" }, { "name": "Golgi vesicle transport", "id": "GO:0048193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048193", "evidence": [ { "database": "UniProtKB", "id": "Q5XJY5", "url": "https://www.uniprot.org/uniprotkb/Q5XJY5" } ], "pmid": "" }, { "name": "Golgi localization", "id": "GO:0051645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051645", "evidence": [ { "database": "UniProtKB", "id": "Q5XJY5", "url": "https://www.uniprot.org/uniprotkb/Q5XJY5" } ], "pmid": "" }, { "name": "cerebellar Purkinje cell layer maturation", "id": "GO:0021691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021691", "evidence": [ { "database": "UniProtKB", "id": "Q5XJY5", "url": "https://www.uniprot.org/uniprotkb/Q5XJY5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5XJY5-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Ser223", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5XJY5", "url": "https://www.uniprot.org/uniprotkb/Q5XJY5" } ] } ] }, { "uniprot_canonical_ac": "Q5XJY5-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Ser244", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5XJY5", "url": "https://www.uniprot.org/uniprotkb/Q5XJY5" } ] } ] }, { "uniprot_canonical_ac": "Q5XJY5-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Ser493", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5XJY5", "url": "https://www.uniprot.org/uniprotkb/Q5XJY5" } ] } ] } ], "record_id": "Q5XJY5-1" }, { "uniprot_canonical_ac": "Q8C4M7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 410, "chemical_mass": 46370.0, "gene_names": "Cenpu;1700029A22Rik;Cenpu;Mlf1ip", "protein_name": "Centromere protein U", "disease": [], "cellular_component": [ { "name": "inner kinetochore", "id": "GO:0000939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000939", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" } ], "pmid": "" }, { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" } ], "pmid": "" }, { "name": "chordate embryonic development", "id": "GO:0043009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043009", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C4M7-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Ser106", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C4M7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C4M7" } ] } ] }, { "uniprot_canonical_ac": "Q8C4M7-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Ser111", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C4M7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C4M7" } ] } ] }, { "uniprot_canonical_ac": "Q8C4M7-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Ser115", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C4M7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C4M7" } ] } ] }, { "uniprot_canonical_ac": "Q8C4M7-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Ser131", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" } ] } ] }, { "uniprot_canonical_ac": "Q8C4M7-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Ser134", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" } ] } ] }, { "uniprot_canonical_ac": "Q8C4M7-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Ser136", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" } ] } ] }, { "uniprot_canonical_ac": "Q8C4M7-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Ser182", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C4M7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C4M7" } ] } ] }, { "uniprot_canonical_ac": "Q8C4M7-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Ser186", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C4M7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C4M7" } ] } ] }, { "uniprot_canonical_ac": "Q8C4M7-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Thr191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C4M7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C4M7" } ] } ] }, { "uniprot_canonical_ac": "Q8C4M7-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Ser224", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" } ] } ] }, { "uniprot_canonical_ac": "Q8C4M7-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Thr74", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C4M7", "url": "https://www.uniprot.org/uniprotkb/Q8C4M7" } ] } ] } ], "record_id": "Q8C4M7-1" }, { "uniprot_canonical_ac": "Q9JIF7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JIF7", "url": "https://www.uniprot.org/uniprotkb/Q9JIF7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 953, "chemical_mass": 107066.0, "gene_names": "Copb1;2610019B04Rik;Copb1;Copb", "protein_name": "Coatomer subunit beta", "disease": [], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF7", "url": "https://www.uniprot.org/uniprotkb/Q9JIF7" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF7", "url": "https://www.uniprot.org/uniprotkb/Q9JIF7" } ], "pmid": "" }, { "name": "Golgi-associated vesicle", "id": "GO:0005798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005798", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF7", "url": "https://www.uniprot.org/uniprotkb/Q9JIF7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF7", "url": "https://www.uniprot.org/uniprotkb/Q9JIF7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF7", "url": "https://www.uniprot.org/uniprotkb/Q9JIF7" } ], "pmid": "" }, { "name": "COPI-coated vesicle", "id": "GO:0030137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030137", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF7", "url": "https://www.uniprot.org/uniprotkb/Q9JIF7" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment", "id": "GO:0005793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005793", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF7", "url": "https://www.uniprot.org/uniprotkb/Q9JIF7" } ], "pmid": "" }, { "name": "COPI vesicle coat", "id": "GO:0030126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030126", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF7", "url": "https://www.uniprot.org/uniprotkb/Q9JIF7" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF7", "url": "https://www.uniprot.org/uniprotkb/Q9JIF7" } ], "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": "Q9JIF7", "url": "https://www.uniprot.org/uniprotkb/Q9JIF7" } ], "pmid": "" }, { "name": "intra-Golgi vesicle-mediated transport", "id": "GO:0006891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006891", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF7", "url": "https://www.uniprot.org/uniprotkb/Q9JIF7" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q9JIF7", "url": "https://www.uniprot.org/uniprotkb/Q9JIF7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JIF7-1", "start_pos": "858", "end_pos": "858", "site_lbl": "Asn858", "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": "VTVNTNMTDLNDYLQHILK", "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" } ] } ] }, { "uniprot_canonical_ac": "Q9JIF7-1", "start_pos": "908", "end_pos": "908", "site_lbl": "Asn908", "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": "SIFGEDALANVSIEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 908, "start_aa": "Asn", "end_pos": 908, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn908", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "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": "Q9JIF7-1" }, { "uniprot_canonical_ac": "Q9QYB1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 253, "chemical_mass": 28729.0, "gene_names": "Clic4;Clic4;D0Jmb3;TU-74;mc3s5;mtCLIC", "protein_name": "Chloride intracellular channel protein 4", "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": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "fertilization", "id": "GO:0009566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009566", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "endothelial cell morphogenesis", "id": "GO:0001886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001886", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "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": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "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": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "vacuolar acidification", "id": "GO:0007035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007035", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "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": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QYB1-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Ser132", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB1-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Ser167", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB1-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Ser236", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q9QYB1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QYB1" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB1-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Tyr244", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ] } ] }, { "uniprot_canonical_ac": "Q9QYB1-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Ser4", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QYB1", "url": "https://www.uniprot.org/uniprotkb/Q9QYB1" } ] } ] } ], "record_id": "Q9QYB1-1" }, { "uniprot_canonical_ac": "Q9Z262-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z262", "url": "https://www.uniprot.org/uniprotkb/Q9Z262" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 219, "chemical_mass": 23388.0, "gene_names": "Cldn6;Cldn6", "protein_name": "Claudin-6", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z262", "url": "https://www.uniprot.org/uniprotkb/Q9Z262" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q9Z262", "url": "https://www.uniprot.org/uniprotkb/Q9Z262" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9Z262", "url": "https://www.uniprot.org/uniprotkb/Q9Z262" } ], "pmid": "" }, { "name": "apicolateral plasma membrane", "id": "GO:0016327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016327", "evidence": [ { "database": "UniProtKB", "id": "Q9Z262", "url": "https://www.uniprot.org/uniprotkb/Q9Z262" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9Z262", "url": "https://www.uniprot.org/uniprotkb/Q9Z262" } ], "pmid": "" }, { "name": "bicellular tight junction assembly", "id": "GO:0070830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070830", "evidence": [ { "database": "UniProtKB", "id": "Q9Z262", "url": "https://www.uniprot.org/uniprotkb/Q9Z262" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "Q9Z262", "url": "https://www.uniprot.org/uniprotkb/Q9Z262" } ], "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": "Q9Z262", "url": "https://www.uniprot.org/uniprotkb/Q9Z262" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9Z262", "url": "https://www.uniprot.org/uniprotkb/Q9Z262" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q9Z262", "url": "https://www.uniprot.org/uniprotkb/Q9Z262" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "Q9Z262", "url": "https://www.uniprot.org/uniprotkb/Q9Z262" } ], "pmid": "" }, { "name": "cell-cell adhesion mediator activity", "id": "GO:0098632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098632", "evidence": [ { "database": "UniProtKB", "id": "Q9Z262", "url": "https://www.uniprot.org/uniprotkb/Q9Z262" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z262-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Ser201", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z262", "url": "https://www.uniprot.org/uniprotkb/Q9Z262" } ] } ] }, { "uniprot_canonical_ac": "Q9Z262-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z262", "url": "https://www.uniprot.org/uniprotkb/Q9Z262" } ] } ] }, { "uniprot_canonical_ac": "Q9Z262-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Ser207", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z262", "url": "https://www.uniprot.org/uniprotkb/Q9Z262" } ] } ] }, { "uniprot_canonical_ac": "Q9Z262-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Ser211", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z262", "url": "https://www.uniprot.org/uniprotkb/Q9Z262" } ] } ] } ], "record_id": "Q9Z262-1" }, { "uniprot_canonical_ac": "P59108-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P59108", "url": "https://www.uniprot.org/uniprotkb/P59108" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 548, "chemical_mass": 61036.0, "gene_names": "Cpne2;3322401K10Rik;Cpne2", "protein_name": "Copine-2", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P59108", "url": "https://www.uniprot.org/uniprotkb/P59108" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P59108", "url": "https://www.uniprot.org/uniprotkb/P59108" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P59108", "url": "https://www.uniprot.org/uniprotkb/P59108" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P59108", "url": "https://www.uniprot.org/uniprotkb/P59108" } ], "pmid": "" }, { "name": "calcium-dependent phospholipid binding", "id": "GO:0005544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005544", "evidence": [ { "database": "UniProtKB", "id": "P59108", "url": "https://www.uniprot.org/uniprotkb/P59108" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "P59108", "url": "https://www.uniprot.org/uniprotkb/P59108" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P59108-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Thr11", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 11, "start_aa": "Thr", "end_pos": 11, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr11", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P59108-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Arg57", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGR->NGS).", "chr_id": "8", "chr_pos": "95275164", "evidence": [ { "id": "rs3388989565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388989565" } ] } ] }, { "uniprot_canonical_ac": "P59108-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Asp170", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Leads to a reduction in the amount of calcium-dependent translocation to the cell membrane. Leads to the constitutive (calcium-independent) attachment to the cell membrane; when associated with N-176; N-232 and N-234.", "evidence": [ { "database": "UniProtKB", "id": "P59108", "url": "https://www.uniprot.org/uniprotkb/P59108" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "P59108-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Asp176", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Does not inhibit calcium-dependent translocation to the cell membrane. Leads to the constitutive (calcium-independent) attachment to the cell membrane; when associated with N-170; N-232 and N-234.", "evidence": [ { "database": "UniProtKB", "id": "P59108", "url": "https://www.uniprot.org/uniprotkb/P59108" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "P59108-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Asp232", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Leads to a reduction in the amount of calcium-dependent translocation to the cell membrane. Leads to the constitutive (calcium-independent) attachment to the cell membrane; when associated with N-170; N-176 and N-234.", "evidence": [ { "database": "UniProtKB", "id": "P59108", "url": "https://www.uniprot.org/uniprotkb/P59108" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "P59108-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Asp234", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Leads to a reduction in the amount of calcium-dependent translocation to the cell membrane. Leads to the constitutive (calcium-independent) attachment to the cell membrane; when associated with N-170; N-176 and N-232.", "evidence": [ { "database": "UniProtKB", "id": "P59108", "url": "https://www.uniprot.org/uniprotkb/P59108" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "P59108-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Asp37", "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-39; N-97 and N-99.", "evidence": [ { "database": "UniProtKB", "id": "P59108", "url": "https://www.uniprot.org/uniprotkb/P59108" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "P59108-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Asp39", "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-37; N-97 and N-99.", "evidence": [ { "database": "UniProtKB", "id": "P59108", "url": "https://www.uniprot.org/uniprotkb/P59108" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "P59108-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Asp97", "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-37; N-39 and N-99.", "evidence": [ { "database": "UniProtKB", "id": "P59108", "url": "https://www.uniprot.org/uniprotkb/P59108" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] }, { "uniprot_canonical_ac": "P59108-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Asp99", "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-37; N-39 and N-97.", "evidence": [ { "database": "UniProtKB", "id": "P59108", "url": "https://www.uniprot.org/uniprotkb/P59108" }, { "database": "PubMed", "id": "26175110", "url": "https://glygen.org/publication/PubMed/26175110" } ] } ] } ], "record_id": "P59108-1" }, { "uniprot_canonical_ac": "P23927-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 175, "chemical_mass": 20069.0, "gene_names": "Cryab;Crya-2;Crya2;Cryab;HspB5;P23", "protein_name": "Alpha-crystallin B chain", "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 }, { "disease_id": "DOID:0080309", "name": "infantile-onset myofibrillar myopathy-2B", "description": "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0080309", "evidence": [ { "id": "0080309", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080309" } ], "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:0110250", "name": "cataract 16 multiple types", "description": "A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q.", "url": "https://disease-ontology.org/term/DOID:0110250", "evidence": [ { "id": "0110250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110250" } ], "weight": 0.0 }, { "disease_id": "DOID:0110450", "name": "dilated cardiomyopathy 1II", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0110450", "evidence": [ { "id": "0110450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110450" } ], "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 }, { "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: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 } ], "biological_process": [ { "name": "negative regulation of intracellular transport", "id": "GO:0032387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032387", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "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": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "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": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "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": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "apoptotic process involved in morphogenesis", "id": "GO:0060561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060561", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "stress-activated MAPK cascade", "id": "GO:0051403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051403", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "tubulin complex assembly", "id": "GO:0007021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007021", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "protein refolding", "id": "GO:0042026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042026", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "microtubule polymerization or depolymerization", "id": "GO:0031109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031109", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "regulation of programmed cell death", "id": "GO:0043067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043067", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "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": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "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": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "I band", "id": "GO:0031674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031674", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "M band", "id": "GO:0031430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031430", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "actin filament bundle", "id": "GO:0032432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032432", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "cardiac myofibril", "id": "GO:0097512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097512", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "contractile muscle fiber", "id": "GO:0043292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043292", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" }, { "name": "structural constituent of eye lens", "id": "GO:0005212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005212", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P23927-1", "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": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "P23927", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P23927" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "27301331", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27301331" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "P23927", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P23927" } ] } ] }, { "uniprot_canonical_ac": "P23927-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Ser19", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P23927", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23927" }, { "database": "PubMed", "id": "9774459", "url": "https://glygen.org/publication/PubMed/9774459" } ] } ] }, { "uniprot_canonical_ac": "P23927-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Ser45", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" }, { "database": "iPTMnet", "id": "P23927", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23927" }, { "database": "PubMed", "id": "19272359", "url": "https://glygen.org/publication/PubMed/19272359" }, { "database": "PubMed", "id": "33220080", "url": "https://glygen.org/publication/PubMed/33220080" }, { "database": "PubMed", "id": "9701032", "url": "https://glygen.org/publication/PubMed/9701032" }, { "database": "PubMed", "id": "9774459", "url": "https://glygen.org/publication/PubMed/9774459" } ] } ] }, { "uniprot_canonical_ac": "P23927-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Ser59", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprotkb/P23927" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P23927", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P23927" }, { "database": "PubMed", "id": "19252088", "url": "https://glygen.org/publication/PubMed/19252088" }, { "database": "PubMed", "id": "19272359", "url": "https://glygen.org/publication/PubMed/19272359" }, { "database": "PubMed", "id": "30974319", "url": "https://glygen.org/publication/PubMed/30974319" }, { "database": "PubMed", "id": "33220080", "url": "https://glygen.org/publication/PubMed/33220080" }, { "database": "PubMed", "id": "9774459", "url": "https://glygen.org/publication/PubMed/9774459" } ] } ] } ], "record_id": "P23927-1" }, { "uniprot_canonical_ac": "P40223-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P40223", "url": "https://www.uniprot.org/uniprotkb/P40223" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 837, "chemical_mass": 93379.0, "gene_names": "Csf3r;Cd114;Csf3r;Csfgr;G-CSF-R;G-CSFR", "protein_name": "Granulocyte colony-stimulating factor receptor", "disease": [ { "disease_id": "DOID:0050590", "name": "severe congenital neutropenia", "description": "A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.", "url": "https://disease-ontology.org/term/DOID:0050590", "evidence": [ { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ], "weight": 0.0 }, { "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:0080187", "name": "chronic neutrophilic leukemia", "description": "A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene.", "url": "https://disease-ontology.org/term/DOID:0080187", "evidence": [ { "id": "0080187", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080187" } ], "weight": 0.0 }, { "disease_id": "DOID:0080188", "name": "chronic myelomonocytic leukemia", "description": "A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood.", "url": "https://disease-ontology.org/term/DOID:0080188", "evidence": [ { "id": "0080188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080188" } ], "weight": 0.0 }, { "disease_id": "DOID:0090120", "name": "hereditary neutrophilia", "description": "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34.", "url": "https://disease-ontology.org/term/DOID:0090120", "evidence": [ { "id": "0090120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090120" } ], "weight": 0.0 }, { "disease_id": "DOID:0112129", "name": "severe congenital neutropenia 7", "description": "A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3.", "url": "https://disease-ontology.org/term/DOID:0112129", "evidence": [ { "id": "0112129", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112129" } ], "weight": 0.0 }, { "disease_id": "DOID:1227", "name": "neutropenia", "description": "", "url": "https://disease-ontology.org/term/DOID:1227", "evidence": [ { "id": "1227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1227" } ], "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: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: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": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P40223", "url": "https://www.uniprot.org/uniprotkb/P40223" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P40223", "url": "https://www.uniprot.org/uniprotkb/P40223" } ], "pmid": "" }, { "name": "endocytic vesicle membrane", "id": "GO:0030666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030666", "evidence": [ { "database": "UniProtKB", "id": "P40223", "url": "https://www.uniprot.org/uniprotkb/P40223" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P40223", "url": "https://www.uniprot.org/uniprotkb/P40223" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P40223", "url": "https://www.uniprot.org/uniprotkb/P40223" } ], "pmid": "" }, { "name": "amelogenesis", "id": "GO:0097186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097186", "evidence": [ { "database": "UniProtKB", "id": "P40223", "url": "https://www.uniprot.org/uniprotkb/P40223" } ], "pmid": "" }, { "name": "regulation of myeloid cell differentiation", "id": "GO:0045637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045637", "evidence": [ { "database": "UniProtKB", "id": "P40223", "url": "https://www.uniprot.org/uniprotkb/P40223" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "P40223", "url": "https://www.uniprot.org/uniprotkb/P40223" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine receptor activity", "id": "GO:0004896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004896", "evidence": [ { "database": "UniProtKB", "id": "P40223", "url": "https://www.uniprot.org/uniprotkb/P40223" } ], "pmid": "" }, { "name": "granulocyte colony-stimulating factor binding", "id": "GO:0051916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051916", "evidence": [ { "database": "UniProtKB", "id": "P40223", "url": "https://www.uniprot.org/uniprotkb/P40223" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P40223-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Asn129", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "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=1CD9&bu=0&command=select+.D:10;+center+selection;+zoom+selection" }, "start_pos": 129, "start_aa": "Asn", "end_pos": 129, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn129", "evidence": [ { "id": "P40223", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P40223#ptm_processing" }, { "id": "10537111", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10537111" }, { "id": "1CD9", "database": "PDB", "url": "https://www.rcsb.org/structure/1CD9" }, { "id": "1CD9", "database": "PDB", "url": "https://www.rcsb.org/structure/1CD9" }, { "id": "1CD9|D|10", "database": "", "url": "" }, { "id": "1CD9|B|10", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P40223-1", "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": "P40223", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P40223#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P40223-1", "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": "P40223", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P40223#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P40223-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Asn392", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 392, "start_aa": "Asn", "end_pos": 392, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn392", "evidence": [ { "id": "P40223", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P40223#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P40223-1", "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": "P40223", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P40223#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P40223-1", "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": "P40223", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P40223#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P40223-1", "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": "P40223", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P40223#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P40223-1", "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": "P40223", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P40223#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P40223-1", "start_pos": "582", "end_pos": "582", "site_lbl": "Asn582", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 582, "start_aa": "Asn", "end_pos": 582, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn582", "evidence": [ { "id": "P40223", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P40223#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P40223-1", "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": "P40223", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P40223#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P40223-1", "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": "P40223-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Asn94", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "P40223", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P40223#ptm_processing" } ] } ] } ], "record_id": "P40223-1" }, { "uniprot_canonical_ac": "F8VPU2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1048, "chemical_mass": 118875.0, "gene_names": "Farp1;Cdep;Farp1", "protein_name": "FERM, ARHGEF and pleckstrin 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": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "pmid": "" }, { "name": "extrinsic component of postsynaptic membrane", "id": "GO:0098890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098890", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "pmid": "" } ], "biological_process": [ { "name": "retrograde trans-synaptic signaling by trans-synaptic protein complex", "id": "GO:0098942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098942", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "pmid": "" }, { "name": "Rac protein signal transduction", "id": "GO:0016601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016601", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton organization", "id": "GO:0098974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098974", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "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": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "pmid": "" }, { "name": "regulation of presynapse assembly", "id": "GO:1905606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905606", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "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": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "F8VPU2-1", "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": "F8VPU2-1", "start_pos": "868", "end_pos": "868", "site_lbl": "Thr868", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 868, "start_aa": "Thr", "end_pos": 868, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr868", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Ser20", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "F8VPU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Ser23", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "F8VPU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Thr24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" }, { "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": "F8VPU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Ser340", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Ser373", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" }, { "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": "F8VPU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Ser389", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "F8VPU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Ser403", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "F8VPU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Ser427", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" }, { "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": "F8VPU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Ser433", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "F8VPU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Ser437", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "F8VPU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Ser512", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "F8VPU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "516", "end_pos": "516", "site_lbl": "Ser516", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "836", "end_pos": "836", "site_lbl": "Ser836", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "875", "end_pos": "875", "site_lbl": "Ser875", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "F8VPU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "881", "end_pos": "881", "site_lbl": "Ser881", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "F8VPU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "886", "end_pos": "886", "site_lbl": "Thr886", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "892", "end_pos": "892", "site_lbl": "Ser892", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" }, { "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": "F8VPU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "899", "end_pos": "899", "site_lbl": "Ser899", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "F8VPU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/F8VPU2" } ] } ] }, { "uniprot_canonical_ac": "F8VPU2-1", "start_pos": "902", "end_pos": "902", "site_lbl": "Ser902", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F8VPU2", "url": "https://www.uniprot.org/uniprotkb/F8VPU2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "F8VPU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/F8VPU2" } ] } ] } ], "record_id": "F8VPU2-1" }, { "uniprot_canonical_ac": "Q6ZPF4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1028, "chemical_mass": 117169.0, "gene_names": "Fmnl3;2700073B04Rik;FBP11;Fmnl3;Frl2;Kiaa2014;Wbp3;mKIAA2014", "protein_name": "Formin-like protein 3", "disease": [], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" } ], "pmid": "" }, { "name": "filopodium assembly", "id": "GO:0046847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046847", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" } ], "pmid": "" }, { "name": "regulation of cell morphogenesis", "id": "GO:0022604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022604", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" } ], "pmid": "" }, { "name": "GTPase activating protein binding", "id": "GO:0032794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032794", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6ZPF4-1", "start_pos": "1014", "end_pos": "1014", "site_lbl": "Ser1014", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6ZPF4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZPF4" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPF4-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Ser174", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6ZPF4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZPF4" } ] } ] }, { "uniprot_canonical_ac": "Q6ZPF4-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Thr95", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6ZPF4", "url": "https://www.uniprot.org/uniprotkb/Q6ZPF4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6ZPF4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZPF4" } ] } ] } ], "record_id": "Q6ZPF4-1" }, { "uniprot_canonical_ac": "Q8R3F5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R3F5", "url": "https://www.uniprot.org/uniprotkb/Q8R3F5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 381, "chemical_mass": 41928.0, "gene_names": "Mcat;Mcat;Mt", "protein_name": "Malonyl-CoA-acyl carrier protein transacylase, mitochondrial", "disease": [ { "disease_id": "DOID:5723", "name": "optic atrophy", "description": "An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.", "url": "https://disease-ontology.org/term/DOID:5723", "evidence": [ { "id": "5723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5723" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8R3F5", "url": "https://www.uniprot.org/uniprotkb/Q8R3F5" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q8R3F5", "url": "https://www.uniprot.org/uniprotkb/Q8R3F5" } ], "pmid": "" }, { "name": "mitochondrial small ribosomal subunit assembly", "id": "GO:0180026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0180026", "evidence": [ { "database": "UniProtKB", "id": "Q8R3F5", "url": "https://www.uniprot.org/uniprotkb/Q8R3F5" } ], "pmid": "" }, { "name": "monocarboxylic acid metabolic process", "id": "GO:0032787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032787", "evidence": [ { "database": "UniProtKB", "id": "Q8R3F5", "url": "https://www.uniprot.org/uniprotkb/Q8R3F5" } ], "pmid": "" } ], "molecular_function": [ { "name": "[acyl-carrier-protein] S-malonyltransferase activity", "id": "GO:0004314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004314", "evidence": [ { "database": "UniProtKB", "id": "Q8R3F5", "url": "https://www.uniprot.org/uniprotkb/Q8R3F5" } ], "pmid": "" }, { "name": "RNA folding chaperone", "id": "GO:0140691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140691", "evidence": [ { "database": "UniProtKB", "id": "Q8R3F5", "url": "https://www.uniprot.org/uniprotkb/Q8R3F5" } ], "pmid": "" }, { "name": "transferase activity", "id": "GO:0016740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740", "evidence": [ { "database": "UniProtKB", "id": "Q8R3F5", "url": "https://www.uniprot.org/uniprotkb/Q8R3F5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R3F5-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Asn298", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G39471UU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PLVAVHSNVSGQKYTHPQHIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 298, "start_aa": "Asn", "end_pos": 298, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn298", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "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": "Q8R3F5-1" }, { "uniprot_canonical_ac": "P50571-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 474, "chemical_mass": 54100.0, "gene_names": "Gabrb1;B230208N19Rik;Gabrb-1;Gabrb1", "protein_name": "Gamma-aminobutyric acid receptor subunit beta-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:0080428", "name": "developmental and epileptic encephalopathy 45", "description": "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13.", "url": "https://disease-ontology.org/term/DOID:0080428", "evidence": [ { "id": "0080428", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080428" } ], "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: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: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 } ], "cellular_component": [ { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "GABA-A receptor complex", "id": "GO:1902711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902711", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "postsynaptic specialization membrane", "id": "GO:0099634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099634", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" } ], "biological_process": [ { "name": "monoatomic ion transport", "id": "GO:0006811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid signaling pathway", "id": "GO:0007214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007214", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "central nervous system neuron development", "id": "GO:0021954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021954", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "cellular response to histamine", "id": "GO:0071420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071420", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "ovulation cycle", "id": "GO:0042698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042698", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "synaptic transmission, GABAergic", "id": "GO:0051932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051932", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "cell communication", "id": "GO:0007154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007154", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "signaling", "id": "GO:0023052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023052", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" } ], "molecular_function": [ { "name": "ligand-gated monoatomic ion channel activity", "id": "GO:0015276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015276", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "monoatomic anion channel activity", "id": "GO:0005253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005253", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "GABA receptor binding", "id": "GO:0050811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050811", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "GABA-A receptor activity", "id": "GO:0004890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004890", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "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": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "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": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "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": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential", "id": "GO:0150047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150047", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "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": "P50571", "url": "https://www.uniprot.org/uniprotkb/P50571" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P50571-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Asn105", "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": "LSYSGIPLNLTLDNR", "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": "P50571", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P50571#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P50571-1", "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": "P50571", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P50571#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P50571-1", "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": "P50571", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P50571#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P50571-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Asn376", "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": "NETSGSEVLTGVSDPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 376, "start_aa": "Asn", "end_pos": 376, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn376", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "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": "P50571-1" }, { "uniprot_canonical_ac": "Q9DCD6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 117, "chemical_mass": 13918.0, "gene_names": "Gabarap;Gabarap", "protein_name": "Gamma-aminobutyric acid receptor-associated protein", "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 } ], "biological_process": [ { "name": "autophagosome maturation", "id": "GO:0097352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "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": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "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": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "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": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "cellular response to nitrogen starvation", "id": "GO:0006995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006995", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "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": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "positive regulation of protein K48-linked ubiquitination", "id": "GO:1902524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902524", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" } ], "cellular_component": [ { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "smooth endoplasmic reticulum", "id": "GO:0005790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005790", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "microtubule associated complex", "id": "GO:0005875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005875", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "postsynaptic specialization, intracellular component", "id": "GO:0099091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099091", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "phosphatidylethanolamine binding", "id": "GO:0008429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008429", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" }, { "name": "GABA receptor binding", "id": "GO:0050811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050811", "evidence": [ { "database": "UniProtKB", "id": "Q9DCD6", "url": "https://www.uniprot.org/uniprotkb/Q9DCD6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DCD6-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Thr87", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 87, "start_aa": "Thr", "end_pos": 87, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr87", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q9DCD6-1" }, { "uniprot_canonical_ac": "Q5U4C1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5U4C1", "url": "https://www.uniprot.org/uniprotkb/Q5U4C1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1347, "chemical_mass": 151745.0, "gene_names": "Gprasp1;2210415K24Rik;3110031O14Rik;GASP1;GASP;Gprasp1;Kiaa0443", "protein_name": "G protein-coupled receptor-associated sorting protein 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5U4C1", "url": "https://www.uniprot.org/uniprotkb/Q5U4C1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q5U4C1", "url": "https://www.uniprot.org/uniprotkb/Q5U4C1" } ], "pmid": "" } ], "biological_process": [ { "name": "endosome to lysosome transport", "id": "GO:0008333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008333", "evidence": [ { "database": "UniProtKB", "id": "Q5U4C1", "url": "https://www.uniprot.org/uniprotkb/Q5U4C1" } ], "pmid": "" }, { "name": "G protein-coupled receptor catabolic process", "id": "GO:1990172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990172", "evidence": [ { "database": "UniProtKB", "id": "Q5U4C1", "url": "https://www.uniprot.org/uniprotkb/Q5U4C1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5U4C1-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Thr68", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 68, "start_aa": "Thr", "end_pos": 68, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr68", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5U4C1-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Ser295", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U4C1", "url": "https://www.uniprot.org/uniprotkb/Q5U4C1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5U4C1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5U4C1" } ] } ] }, { "uniprot_canonical_ac": "Q5U4C1-1", "start_pos": "619", "end_pos": "619", "site_lbl": "Ser619", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U4C1", "url": "https://www.uniprot.org/uniprotkb/Q5U4C1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5U4C1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5U4C1" } ] } ] }, { "uniprot_canonical_ac": "Q5U4C1-1", "start_pos": "626", "end_pos": "626", "site_lbl": "Ser626", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U4C1", "url": "https://www.uniprot.org/uniprotkb/Q5U4C1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5U4C1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5U4C1" } ] } ] }, { "uniprot_canonical_ac": "Q5U4C1-1", "start_pos": "860", "end_pos": "860", "site_lbl": "Thr860", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U4C1", "url": "https://www.uniprot.org/uniprotkb/Q5U4C1" } ] } ] }, { "uniprot_canonical_ac": "Q5U4C1-1", "start_pos": "862", "end_pos": "862", "site_lbl": "Ser862", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5U4C1", "url": "https://www.uniprot.org/uniprotkb/Q5U4C1" } ] } ] }, { "uniprot_canonical_ac": "Q5U4C1-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Arg328", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NMR->NMS).", "chr_id": "X", "chr_pos": "134700792", "evidence": [ { "id": "rs3412084760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412084760" } ] } ] } ], "record_id": "Q5U4C1-1" }, { "uniprot_canonical_ac": "Q91W43-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1025, "chemical_mass": 113267.0, "gene_names": "Gldc;D030049L12Rik;D19Wsu57e;Gldc;b2b2679Clo", "protein_name": "Glycine dehydrogenase (decarboxylating), mitochondrial", "disease": [ { "disease_id": "DOID:0070616", "name": "glycine encephalopathy 1", "description": "A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24.", "url": "https://disease-ontology.org/term/DOID:0070616", "evidence": [ { "id": "0070616", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070616" } ], "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:9268", "name": "glycine encephalopathy", "description": "An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.", "url": "https://disease-ontology.org/term/DOID:9268", "evidence": [ { "id": "9268", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9268" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "pmid": "" }, { "name": "glycine cleavage complex", "id": "GO:0005960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005960", "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "pmid": "" }, { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "pmid": "" }, { "name": "lyase activity", "id": "GO:0016829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016829", "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "pmid": "" }, { "name": "glycine dehydrogenase (decarboxylating) activity", "id": "GO:0004375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004375", "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "pmid": "" }, { "name": "glycine binding", "id": "GO:0016594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016594", "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "pmid": "" }, { "name": "pyridoxal binding", "id": "GO:0070280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070280", "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "pmid": "" }, { "name": "glycine decarboxylation via glycine cleavage system", "id": "GO:0019464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019464", "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "pmid": "" }, { "name": "glycine catabolic process", "id": "GO:0006546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006546", "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "pmid": "" }, { "name": "response to methylamine", "id": "GO:0036255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036255", "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "pmid": "" }, { "name": "response to lipoic acid", "id": "GO:1903442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903442", "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q91W43", "url": "https://www.uniprot.org/uniprotkb/Q91W43" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91W43-1", "start_pos": "568", "end_pos": "568", "site_lbl": "Asn568", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G85282JO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LNSSSELAPITWR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 568, "start_aa": "Asn", "end_pos": 568, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn568", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q91W43-1", "start_pos": "796", "end_pos": "796", "site_lbl": "Thr796", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 796, "start_aa": "Thr", "end_pos": 796, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr796", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q91W43-1" }, { "uniprot_canonical_ac": "Q80SY4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1006, "chemical_mass": 110088.0, "gene_names": "Mib1;DIP-1;Dip1;E430019M12Rik;Kiaa1323;Mib1;Mib;mindbomb", "protein_name": "E3 ubiquitin-protein ligase MIB1", "disease": [ { "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 }, { "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": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "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": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "neural tube formation", "id": "GO:0001841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001841", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80SY4-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Ser408", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80SY4", "url": "https://www.uniprot.org/uniprotkb/Q80SY4" } ] } ] } ], "record_id": "Q80SY4-1" }, { "uniprot_canonical_ac": "Q3U1Z5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U1Z5", "url": "https://www.uniprot.org/uniprotkb/Q3U1Z5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 159, "chemical_mass": 17619.0, "gene_names": "Gpsm3;AGS4;Gpsm3", "protein_name": "G protein-signaling modulator 3", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3U1Z5", "url": "https://www.uniprot.org/uniprotkb/Q3U1Z5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3U1Z5", "url": "https://www.uniprot.org/uniprotkb/Q3U1Z5" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "Q3U1Z5", "url": "https://www.uniprot.org/uniprotkb/Q3U1Z5" } ], "pmid": "" }, { "name": "positive regulation of leukocyte chemotaxis", "id": "GO:0002690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002690", "evidence": [ { "database": "UniProtKB", "id": "Q3U1Z5", "url": "https://www.uniprot.org/uniprotkb/Q3U1Z5" } ], "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": "Q3U1Z5", "url": "https://www.uniprot.org/uniprotkb/Q3U1Z5" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q3U1Z5", "url": "https://www.uniprot.org/uniprotkb/Q3U1Z5" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase regulator activity", "id": "GO:0030695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030695", "evidence": [ { "database": "UniProtKB", "id": "Q3U1Z5", "url": "https://www.uniprot.org/uniprotkb/Q3U1Z5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3U1Z5-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ser34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U1Z5", "url": "https://www.uniprot.org/uniprotkb/Q3U1Z5" } ] } ] }, { "uniprot_canonical_ac": "Q3U1Z5-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Ser38", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U1Z5", "url": "https://www.uniprot.org/uniprotkb/Q3U1Z5" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q3U1Z5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U1Z5" } ] } ] }, { "uniprot_canonical_ac": "Q3U1Z5-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Ser55", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U1Z5", "url": "https://www.uniprot.org/uniprotkb/Q3U1Z5" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q3U1Z5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U1Z5" } ] } ] }, { "uniprot_canonical_ac": "Q3U1Z5-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ser58", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U1Z5", "url": "https://www.uniprot.org/uniprotkb/Q3U1Z5" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q3U1Z5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U1Z5" } ] } ] }, { "uniprot_canonical_ac": "Q3U1Z5-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Thr61", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U1Z5", "url": "https://www.uniprot.org/uniprotkb/Q3U1Z5" } ] } ] } ], "record_id": "Q3U1Z5-1" }, { "uniprot_canonical_ac": "M0QWR4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "M0QWR4", "url": "https://www.uniprot.org/uniprotkb/M0QWR4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 261, "chemical_mass": 29516.0, "gene_names": "Alyreffm17;Alyreffm11;Alyreffm13;Alyreffm14;Alyreffm15;Alyreffm16;Gm20765;Gm21293;Gm21304;Gm21312;Gm6763;Gm8764", "protein_name": "", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "M0QWR4", "url": "https://www.uniprot.org/uniprotkb/M0QWR4" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "M0QWR4", "url": "https://www.uniprot.org/uniprotkb/M0QWR4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "M0QWR4", "url": "https://www.uniprot.org/uniprotkb/M0QWR4" } ], "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": "M0QWR4", "url": "https://www.uniprot.org/uniprotkb/M0QWR4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M0QWR4-1" }, { "uniprot_canonical_ac": "P45591-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P45591", "url": "https://www.uniprot.org/uniprotkb/P45591" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 166, "chemical_mass": 18710.0, "gene_names": "Cfl2;Cfl2", "protein_name": "Cofilin-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:0110934", "name": "nemaline myopathy 7", "description": "A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13.", "url": "https://disease-ontology.org/term/DOID:0110934", "evidence": [ { "id": "0110934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110934" } ], "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": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P45591", "url": "https://www.uniprot.org/uniprotkb/P45591" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P45591", "url": "https://www.uniprot.org/uniprotkb/P45591" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "P45591", "url": "https://www.uniprot.org/uniprotkb/P45591" } ], "pmid": "" }, { "name": "I band", "id": "GO:0031674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031674", "evidence": [ { "database": "UniProtKB", "id": "P45591", "url": "https://www.uniprot.org/uniprotkb/P45591" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P45591", "url": "https://www.uniprot.org/uniprotkb/P45591" } ], "pmid": "" } ], "biological_process": [ { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P45591", "url": "https://www.uniprot.org/uniprotkb/P45591" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "P45591", "url": "https://www.uniprot.org/uniprotkb/P45591" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "P45591", "url": "https://www.uniprot.org/uniprotkb/P45591" } ], "pmid": "" }, { "name": "actin filament severing", "id": "GO:0051014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051014", "evidence": [ { "database": "UniProtKB", "id": "P45591", "url": "https://www.uniprot.org/uniprotkb/P45591" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "P45591", "url": "https://www.uniprot.org/uniprotkb/P45591" } ], "pmid": "" }, { "name": "actin filament depolymerization", "id": "GO:0030042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030042", "evidence": [ { "database": "UniProtKB", "id": "P45591", "url": "https://www.uniprot.org/uniprotkb/P45591" } ], "pmid": "" }, { "name": "actin filament fragmentation", "id": "GO:0030043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030043", "evidence": [ { "database": "UniProtKB", "id": "P45591", "url": "https://www.uniprot.org/uniprotkb/P45591" } ], "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": "P45591", "url": "https://www.uniprot.org/uniprotkb/P45591" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P45591", "url": "https://www.uniprot.org/uniprotkb/P45591" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P45591-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Ser3", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P45591", "url": "https://www.uniprot.org/uniprotkb/P45591" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "P45591", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P45591" } ] } ] }, { "uniprot_canonical_ac": "P45591-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Thr6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P45591", "url": "https://www.uniprot.org/uniprotkb/P45591" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "P45591", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P45591" } ] } ] } ], "record_id": "P45591-1" }, { "uniprot_canonical_ac": "P97468-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 371, "chemical_mass": 41815.0, "gene_names": "Cmklr1;ChemR23;Cmklr1;DEZ;Dez;Gpcr27;mcmklr1", "protein_name": "Chemerin-like receptor 1", "disease": [], "molecular_function": [ { "name": "complement receptor activity", "id": "GO:0004875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004875", "evidence": [ { "database": "UniProtKB", "id": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ], "pmid": "" }, { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ], "pmid": "" }, { "name": "adipokinetic hormone receptor activity", "id": "GO:0097003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097003", "evidence": [ { "database": "UniProtKB", "id": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ], "pmid": "" }, { "name": "adipokinetic hormone binding", "id": "GO:0097004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097004", "evidence": [ { "database": "UniProtKB", "id": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ], "pmid": "" } ], "biological_process": [ { "name": "complement receptor mediated signaling pathway", "id": "GO:0002430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002430", "evidence": [ { "database": "UniProtKB", "id": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ], "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": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ], "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": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ], "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": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ], "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": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ], "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": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ], "pmid": "" }, { "name": "regulation of calcium-mediated signaling", "id": "GO:0050848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050848", "evidence": [ { "database": "UniProtKB", "id": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ], "pmid": "" }, { "name": "positive regulation of macrophage chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": "UniProtKB", "id": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ], "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": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97468-1", "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": "P97468", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97468#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97468-1", "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": "P97468-1", "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": "P97468", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97468#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97468-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Ser337", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97468", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97468" } ] } ] }, { "uniprot_canonical_ac": "P97468-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Thr340", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97468", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97468" } ] } ] }, { "uniprot_canonical_ac": "P97468-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Ser347", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97468", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97468" } ] } ] }, { "uniprot_canonical_ac": "P97468-1", "start_pos": "350", "end_pos": "350", "site_lbl": "Ser350", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97468", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97468" } ] } ] }, { "uniprot_canonical_ac": "P97468-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Ser356", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" } ] } ] }, { "uniprot_canonical_ac": "P97468-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Thr370", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97468", "url": "https://www.uniprot.org/uniprotkb/P97468" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97468", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97468" } ] } ] } ], "record_id": "P97468-1" }, { "uniprot_canonical_ac": "O08791-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08791", "url": "https://www.uniprot.org/uniprotkb/O08791" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 596, "chemical_mass": 64878.0, "gene_names": "Ebf3;3110018A08Rik;Coe3;Ebf3;O/E-2;mKIAA4201", "protein_name": "Transcription factor COE3", "disease": [ { "disease_id": "DOID:0081176", "name": "hypotonia, ataxia, and delayed development syndrome", "description": "A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0081176", "evidence": [ { "id": "0081176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081176" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O08791", "url": "https://www.uniprot.org/uniprotkb/O08791" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O08791", "url": "https://www.uniprot.org/uniprotkb/O08791" } ], "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": "O08791", "url": "https://www.uniprot.org/uniprotkb/O08791" } ], "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": "O08791", "url": "https://www.uniprot.org/uniprotkb/O08791" } ], "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": "O08791", "url": "https://www.uniprot.org/uniprotkb/O08791" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O08791", "url": "https://www.uniprot.org/uniprotkb/O08791" } ], "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": "O08791", "url": "https://www.uniprot.org/uniprotkb/O08791" } ], "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": "O08791", "url": "https://www.uniprot.org/uniprotkb/O08791" } ], "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": "O08791", "url": "https://www.uniprot.org/uniprotkb/O08791" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O08791-1" }, { "uniprot_canonical_ac": "E9Q793-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q793", "url": "https://www.uniprot.org/uniprotkb/E9Q793" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 770, "chemical_mass": 87417.0, "gene_names": "Jhy;4931429I11Rik;Jhy", "protein_name": "Jhy protein", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "E9Q793", "url": "https://www.uniprot.org/uniprotkb/E9Q793" } ], "pmid": "" } ], "biological_process": [ { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "E9Q793", "url": "https://www.uniprot.org/uniprotkb/E9Q793" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "E9Q793", "url": "https://www.uniprot.org/uniprotkb/E9Q793" } ], "pmid": "" }, { "name": "motile cilium assembly", "id": "GO:0044458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044458", "evidence": [ { "database": "UniProtKB", "id": "E9Q793", "url": "https://www.uniprot.org/uniprotkb/E9Q793" } ], "pmid": "" }, { "name": "axoneme assembly", "id": "GO:0035082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035082", "evidence": [ { "database": "UniProtKB", "id": "E9Q793", "url": "https://www.uniprot.org/uniprotkb/E9Q793" } ], "pmid": "" }, { "name": "regulation of establishment of planar polarity", "id": "GO:0090175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090175", "evidence": [ { "database": "UniProtKB", "id": "E9Q793", "url": "https://www.uniprot.org/uniprotkb/E9Q793" } ], "pmid": "" }, { "name": "cerebrospinal fluid circulation", "id": "GO:0090660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090660", "evidence": [ { "database": "UniProtKB", "id": "E9Q793", "url": "https://www.uniprot.org/uniprotkb/E9Q793" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9Q793-1" }, { "uniprot_canonical_ac": "P26339-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 463, "chemical_mass": 51789.0, "gene_names": "Chga;Chga;ChrA;cgA", "protein_name": "Chromogranin-A", "disease": [ { "disease_id": "DOID:0050771", "name": "pheochromocytoma", "description": "An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure.", "url": "https://disease-ontology.org/term/DOID:0050771", "evidence": [ { "id": "0050771", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050771" } ], "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: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: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": "neuronal dense core vesicle", "id": "GO:0098992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098992", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "pmid": "" }, { "name": "transport vesicle", "id": "GO:0030133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030133", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "pmid": "" }, { "name": "chromaffin granule", "id": "GO:0042583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042583", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "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": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "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": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "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": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "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": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "pmid": "" }, { "name": "positive regulation of vasoconstriction", "id": "GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "pmid": "" }, { "name": "negative regulation of insulin secretion", "id": "GO:0046676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046676", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "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": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "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": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "pmid": "" }, { "name": "mast cell activation", "id": "GO:0045576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045576", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "pmid": "" }, { "name": "mast cell degranulation", "id": "GO:0043303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043303", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "pmid": "" }, { "name": "mast cell chemotaxis", "id": "GO:0002551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002551", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "pmid": "" }, { "name": "negative regulation of catecholamine secretion", "id": "GO:0033604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033604", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "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": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "pmid": "" }, { "name": "positive regulation of relaxation of cardiac muscle", "id": "GO:1901899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901899", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "pmid": "" }, { "name": "positive regulation of dense core granule biogenesis", "id": "GO:2000707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000707", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "pmid": "" }, { "name": "protein localization to secretory granule", "id": "GO:0033366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033366", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "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": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P26339-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Thr259", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 259, "start_aa": "Thr", "end_pos": 259, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr259", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Ser430", "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": 430, "start_aa": "Ser", "end_pos": 430, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser430", "evidence": [ { "id": "P26339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P26339#ptm_processing" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Ser119", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Ser220", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Ser282", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P26339", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P26339" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Ser308", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "350", "end_pos": "350", "site_lbl": "Ser350", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Ser383", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Ser410", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Ser414", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Ser444", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P26339", "url": "https://www.uniprot.org/uniprotkb/P26339" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Glu114", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "12", "chr_pos": "102527687", "evidence": [ { "id": "rs52618865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs52618865" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Asp122", "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": "12", "chr_pos": "102527712", "evidence": [ { "id": "rs3403570505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3403570505" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Leu124", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "12", "chr_pos": "102527717", "evidence": [ { "id": "rs3508009097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3508009097" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Ala140", "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": "12", "chr_pos": "102527928", "evidence": [ { "id": "rs48631094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48631094" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Met150", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "12", "chr_pos": "102527959", "evidence": [ { "id": "rs3389254112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389254112" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "158", "end_pos": "158", "site_lbl": "Lys158", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "12", "chr_pos": "102527982", "evidence": [ { "id": "rs3389215627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389215627" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Phe164", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "12", "chr_pos": "102528000", "evidence": [ { "id": "rs3389248986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389248986" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Phe176", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "12", "chr_pos": "102528037", "evidence": [ { "id": "rs220069409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220069409" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Asp188", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "12", "chr_pos": "102528073", "evidence": [ { "id": "rs226102427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226102427" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "12", "chr_pos": "102528081", "evidence": [ { "id": "rs239182039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239182039" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Gly193", "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": "12", "chr_pos": "102528088", "evidence": [ { "id": "rs258001339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258001339" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Val212", "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": "12", "chr_pos": "102528145", "evidence": [ { "id": "rs228269185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228269185" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Gly269", "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": "12", "chr_pos": "102528316", "evidence": [ { "id": "rs52593624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs52593624" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Gln279", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "12", "chr_pos": "102528859", "evidence": [ { "id": "rs3389266236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389266236" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Ser280", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "12", "chr_pos": "102528863", "evidence": [ { "id": "rs49447379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49447379" } ] }, { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "12", "chr_pos": "102528862", "evidence": [ { "id": "rs261845002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261845002" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Gly301", "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": "12", "chr_pos": "102528926", "evidence": [ { "id": "rs238830793", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238830793" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Gln310", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "12", "chr_pos": "102528953", "evidence": [ { "id": "rs228317622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228317622" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Glu342", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "12", "chr_pos": "102529050", "evidence": [ { "id": "rs261396023", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261396023" } ] }, { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "12", "chr_pos": "102529048", "evidence": [ { "id": "rs251122186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251122186" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Arg348", "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": "12", "chr_pos": "102529067", "evidence": [ { "id": "rs228533971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228533971" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Ser359", "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": "12", "chr_pos": "102529100", "evidence": [ { "id": "rs3389271391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389271391" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Arg391", "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": "12", "chr_pos": "102529196", "evidence": [ { "id": "rs250044278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250044278" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Arg396", "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": "12", "chr_pos": "102529212", "evidence": [ { "id": "rs3389264784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389264784" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Gly399", "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": "12", "chr_pos": "102529220", "evidence": [ { "id": "rs213755206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213755206" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Ser3", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "12", "chr_pos": "102521391", "evidence": [ { "id": "rs3389257217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389257217" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Trp406", "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": "12", "chr_pos": "102529240", "evidence": [ { "id": "rs3389248973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389248973" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "420", "end_pos": "420", "site_lbl": "Asp420", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "12", "chr_pos": "102529282", "evidence": [ { "id": "rs3412747478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412747478" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Lys424", "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": "12", "chr_pos": "102529294", "evidence": [ { "id": "rs3389271382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389271382" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Thr4", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "12", "chr_pos": "102521393", "evidence": [ { "id": "rs13461500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13461500" } ] } ] }, { "uniprot_canonical_ac": "P26339-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Leu95", "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": "12", "chr_pos": "102527631", "evidence": [ { "id": "rs587503447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587503447" } ] } ] } ], "record_id": "P26339-1" }, { "uniprot_canonical_ac": "Q6SJQ0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 318, "chemical_mass": 35629.0, "gene_names": "Cd300a;B230315M08Rik;Cd300a;Clm8;LMIR1;Lmir1;MAIR-1;MAIR-Ia;MAIR-I;MMAC8;Mcpir1;Pigr4;mcpir1", "protein_name": "CMRF35-like molecule 8", "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": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" }, { "name": "phosphatidylethanolamine binding", "id": "GO:0008429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008429", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" }, { "name": "phosphatase binding", "id": "GO:0019902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019902", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" }, { "name": "negative regulation of serotonin secretion", "id": "GO:0014063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014063", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "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": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "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": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "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": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "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": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" }, { "name": "regulation of innate immune response", "id": "GO:0045088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045088", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "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": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" }, { "name": "negative regulation of mast cell degranulation", "id": "GO:0043305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043305", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "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": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" }, { "name": "negative regulation of NK T cell activation", "id": "GO:0051134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051134", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" }, { "name": "negative regulation of phagocytosis, engulfment", "id": "GO:0060101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060101", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" }, { "name": "negative regulation of neutrophil activation", "id": "GO:1902564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902564", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" }, { "name": "negative regulation of eosinophil activation", "id": "GO:1902567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902567", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" }, { "name": "negative regulation of eosinophil migration", "id": "GO:2000417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000417", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" }, { "name": "serotonin secretion by mast cell", "id": "GO:0002552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002552", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6SJQ0-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Asn93", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 93, "start_aa": "Asn", "end_pos": 93, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn93", "evidence": [ { "id": "Q6SJQ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6SJQ0-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Tyr303", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q6SJQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6SJQ0" } ] } ] }, { "uniprot_canonical_ac": "Q6SJQ0-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Asp121", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "11", "chr_pos": "114784354", "evidence": [ { "id": "rs587170353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587170353" } ] } ] }, { "uniprot_canonical_ac": "Q6SJQ0-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Tyr237", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes internalization after cross-linking.", "evidence": [ { "database": "UniProtKB", "id": "Q6SJQ0", "url": "https://www.uniprot.org/uniprotkb/Q6SJQ0" }, { "database": "PubMed", "id": "12874256", "url": "https://glygen.org/publication/PubMed/12874256" } ] } ] } ], "record_id": "Q6SJQ0-1" }, { "uniprot_canonical_ac": "Q8R4N0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R4N0", "url": "https://www.uniprot.org/uniprotkb/Q8R4N0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 338, "chemical_mass": 37549.0, "gene_names": "Clybl;0610033J05Rik;2310014M14Rik;Clb;Clybl", "protein_name": "Citramalyl-CoA lyase, mitochondrial", "disease": [], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q8R4N0", "url": "https://www.uniprot.org/uniprotkb/Q8R4N0" } ], "pmid": "" }, { "name": "acyl-CoA hydrolase activity", "id": "GO:0016289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016289", "evidence": [ { "database": "UniProtKB", "id": "Q8R4N0", "url": "https://www.uniprot.org/uniprotkb/Q8R4N0" } ], "pmid": "" }, { "name": "malate synthase activity", "id": "GO:0004474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004474", "evidence": [ { "database": "UniProtKB", "id": "Q8R4N0", "url": "https://www.uniprot.org/uniprotkb/Q8R4N0" } ], "pmid": "" }, { "name": "(S)-citramalyl-CoA lyase activity", "id": "GO:0047777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047777", "evidence": [ { "database": "UniProtKB", "id": "Q8R4N0", "url": "https://www.uniprot.org/uniprotkb/Q8R4N0" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8R4N0", "url": "https://www.uniprot.org/uniprotkb/Q8R4N0" } ], "pmid": "" } ], "biological_process": [ { "name": "protein homotrimerization", "id": "GO:0070207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070207", "evidence": [ { "database": "UniProtKB", "id": "Q8R4N0", "url": "https://www.uniprot.org/uniprotkb/Q8R4N0" } ], "pmid": "" }, { "name": "regulation of cobalamin metabolic process", "id": "GO:0106064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106064", "evidence": [ { "database": "UniProtKB", "id": "Q8R4N0", "url": "https://www.uniprot.org/uniprotkb/Q8R4N0" } ], "pmid": "" }, { "name": "positive regulation of cobalamin metabolic process", "id": "GO:0106121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106121", "evidence": [ { "database": "UniProtKB", "id": "Q8R4N0", "url": "https://www.uniprot.org/uniprotkb/Q8R4N0" } ], "pmid": "" }, { "name": "toxic metabolite repair", "id": "GO:0110052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110052", "evidence": [ { "database": "UniProtKB", "id": "Q8R4N0", "url": "https://www.uniprot.org/uniprotkb/Q8R4N0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R4N0-1", "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" } ] } ] } ], "record_id": "Q8R4N0-1" }, { "uniprot_canonical_ac": "Q9Z0S3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 239, "chemical_mass": 25614.0, "gene_names": "Cldn14;Cldn14", "protein_name": "Claudin-14", "disease": [ { "disease_id": "DOID:0110487", "name": "autosomal recessive nonsyndromic deafness 29", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22.", "url": "https://disease-ontology.org/term/DOID:0110487", "evidence": [ { "id": "0110487", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110487" } ], "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": "Q9Z0S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S3" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S3" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S3" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S3" } ], "pmid": "" } ], "biological_process": [ { "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": "Q9Z0S3", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9Z0S3-1" }, { "uniprot_canonical_ac": "Q7TRP9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TRP9", "url": "https://www.uniprot.org/uniprotkb/Q7TRP9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 324, "chemical_mass": 36756.0, "gene_names": "Or52u1;Olfr654", "protein_name": "", "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": "Q7TRP9", "url": "https://www.uniprot.org/uniprotkb/Q7TRP9" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q7TRP9", "url": "https://www.uniprot.org/uniprotkb/Q7TRP9" } ], "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": "Q7TRP9", "url": "https://www.uniprot.org/uniprotkb/Q7TRP9" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q7TRP9", "url": "https://www.uniprot.org/uniprotkb/Q7TRP9" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7TRP9", "url": "https://www.uniprot.org/uniprotkb/Q7TRP9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TRP9", "url": "https://www.uniprot.org/uniprotkb/Q7TRP9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7TRP9-1" }, { "uniprot_canonical_ac": "Q60994-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 247, "chemical_mass": 26809.0, "gene_names": "Adipoq;30kDa;APN;Acdc;Acrp30;Adid;Adipoq;Ad;Apm1;GBP28;adipo;apM1", "protein_name": "Adiponectin", "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: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:0050830", "name": "peripheral artery disease", "description": "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.", "url": "https://disease-ontology.org/term/DOID:0050830", "evidence": [ { "id": "0050830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050830" } ], "weight": 0.0 }, { "disease_id": "DOID:0050847", "name": "sleep apnea", "description": "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.", "url": "https://disease-ontology.org/term/DOID:0050847", "evidence": [ { "id": "0050847", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050847" } ], "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: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: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: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: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: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: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: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: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:1206", "name": "Rett syndrome", "description": "A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.", "url": "https://disease-ontology.org/term/DOID:1206", "evidence": [ { "id": "1206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1206" } ], "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: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: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: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: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: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: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:178", "name": "vascular disease", "description": "A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart.", "url": "https://disease-ontology.org/term/DOID:178", "evidence": [ { "id": "178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:178" } ], "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: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: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: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:2755", "name": "Mycobacterium avium complex disease", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons.", "url": "https://disease-ontology.org/term/DOID:2755", "evidence": [ { "id": "2755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2755" } ], "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: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: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:3362", "name": "coronary aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:3362", "evidence": [ { "id": "3362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3362" } ], "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: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: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: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: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: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: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: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: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:9120", "name": "amyloidosis", "description": "A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.", "url": "https://disease-ontology.org/term/DOID:9120", "evidence": [ { "id": "9120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9120" } ], "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: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 } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "sialic acid binding", "id": "GO:0033691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033691", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "brown fat cell differentiation", "id": "GO:0050873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050873", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "regulation of glucose metabolic process", "id": "GO:0010906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010906", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of hormone secretion", "id": "GO:0046888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046888", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of macrophage derived foam cell differentiation", "id": "GO:0010745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010745", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "fatty acid oxidation", "id": "GO:0019395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019395", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "adiponectin-activated signaling pathway", "id": "GO:0033211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033211", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "low-density lipoprotein particle clearance", "id": "GO:0034383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034383", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of cholesterol import", "id": "GO:0060621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060621", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "positive regulation of signal transduction", "id": "GO:0009967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009967", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of granulocyte differentiation", "id": "GO:0030853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030853", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "positive regulation of myeloid cell apoptotic process", "id": "GO:0033034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033034", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of heterotypic cell-cell adhesion", "id": "GO:0034115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034115", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of macrophage differentiation", "id": "GO:0045650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045650", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of gluconeogenesis", "id": "GO:0045721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045721", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "positive regulation of fatty acid metabolic process", "id": "GO:0045923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045923", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of phagocytosis", "id": "GO:0050765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050765", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission", "id": "GO:0050805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050805", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "cellular response to epinephrine stimulus", "id": "GO:0071872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071872", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of intracellular protein transport", "id": "GO:0090317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090317", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "positive regulation of glycogen (starch) synthase activity", "id": "GO:2000467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000467", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "positive regulation of renal albumin absorption", "id": "GO:2000534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000534", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of platelet-derived growth factor receptor-alpha signaling pathway", "id": "GO:2000584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000584", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of metanephric mesenchymal cell migration", "id": "GO:2000590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000590", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of receptor-mediated endocytosis", "id": "GO:0048261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048261", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "negative regulation of vascular associated smooth muscle cell migration", "id": "GO:1904753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904753", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" }, { "name": "endocrine signaling", "id": "GO:0038002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038002", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "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": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60994-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Thr100", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 100, "start_aa": "Thr", "end_pos": 100, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr100", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q60994-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Lys104", "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": 104, "start_aa": "Lys", "end_pos": 104, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys104", "evidence": [ { "id": "Q60994", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60994#ptm_processing" }, { "id": "23209641", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23209641" }, { "id": "11912203", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11912203" } ] } ], "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Impaired formation of HMW multimers; when associated with R-68; R-71 and R-80.", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" }, { "database": "PubMed", "id": "16621799", "url": "https://glygen.org/publication/PubMed/16621799" } ] } ] }, { "uniprot_canonical_ac": "Q60994-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Thr23", "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": 23, "start_aa": "Thr", "end_pos": 23, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr23", "evidence": [ { "id": "Q60994", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60994#ptm_processing" }, { "id": "19855092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19855092" } ] } ] }, { "uniprot_canonical_ac": "Q60994-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Thr24", "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": 24, "start_aa": "Thr", "end_pos": 24, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr24", "evidence": [ { "id": "Q60994", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60994#ptm_processing" }, { "id": "19855092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19855092" } ] } ] }, { "uniprot_canonical_ac": "Q60994-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Asn53", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "automatic_literature_mining", "site_category_dict": { "automatic_literature_mining": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 53, "start_aa": "Asn", "end_pos": 53, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn53", "evidence": [ { "id": "21769758", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21769758" }, { "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": "Q60994-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Lys68", "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": 68, "start_aa": "Lys", "end_pos": 68, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys68", "evidence": [ { "id": "Q60994", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60994#ptm_processing" }, { "id": "23209641", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23209641" }, { "id": "11912203", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11912203" } ] } ], "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Impaired formation of HMW multimers; when associated with R-71; R-80 and R-104.", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" }, { "database": "PubMed", "id": "16621799", "url": "https://glygen.org/publication/PubMed/16621799" } ] } ] }, { "uniprot_canonical_ac": "Q60994-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Lys71", "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": 71, "start_aa": "Lys", "end_pos": 71, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys71", "evidence": [ { "id": "Q60994", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60994#ptm_processing" }, { "id": "23209641", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23209641" }, { "id": "11912203", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11912203" } ] } ], "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Impaired formation of HMW multimers; when associated with R-68; R-80 and R-104.", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" }, { "database": "PubMed", "id": "16621799", "url": "https://glygen.org/publication/PubMed/16621799" } ] } ] }, { "uniprot_canonical_ac": "Q60994-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Lys80", "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": 80, "start_aa": "Lys", "end_pos": 80, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys80", "evidence": [ { "id": "Q60994", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60994#ptm_processing" }, { "id": "11912203", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11912203" }, { "id": "23209641", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23209641" } ] } ], "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Impaired formation of HMW multimers; when associated with R-68; R-71 and R-104.", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" }, { "database": "PubMed", "id": "16621799", "url": "https://glygen.org/publication/PubMed/16621799" } ] } ] }, { "uniprot_canonical_ac": "Q60994-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Cys39", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No change in the interaction with CTRP9.", "evidence": [ { "database": "UniProtKB", "id": "Q60994", "url": "https://www.uniprot.org/uniprotkb/Q60994" }, { "database": "PubMed", "id": "18787108", "url": "https://glygen.org/publication/PubMed/18787108" } ] } ] } ], "record_id": "Q60994-1" }, { "uniprot_canonical_ac": "Q9CQ13-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQ13", "url": "https://www.uniprot.org/uniprotkb/Q9CQ13" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 173, "chemical_mass": 18666.0, "gene_names": "Coprs;1700029I03Rik;2410022L05Rik;Copr5;Coprs", "protein_name": "Coordinator of PRMT5 and differentiation stimulator", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ13", "url": "https://www.uniprot.org/uniprotkb/Q9CQ13" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ13", "url": "https://www.uniprot.org/uniprotkb/Q9CQ13" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ13", "url": "https://www.uniprot.org/uniprotkb/Q9CQ13" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ13", "url": "https://www.uniprot.org/uniprotkb/Q9CQ13" } ], "pmid": "" }, { "name": "methylosome", "id": "GO:0034709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034709", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ13", "url": "https://www.uniprot.org/uniprotkb/Q9CQ13" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ13", "url": "https://www.uniprot.org/uniprotkb/Q9CQ13" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ13", "url": "https://www.uniprot.org/uniprotkb/Q9CQ13" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ13", "url": "https://www.uniprot.org/uniprotkb/Q9CQ13" } ], "pmid": "" }, { "name": "blastocyst hatching", "id": "GO:0001835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001835", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ13", "url": "https://www.uniprot.org/uniprotkb/Q9CQ13" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ13", "url": "https://www.uniprot.org/uniprotkb/Q9CQ13" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CQ13-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Ser64", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ13", "url": "https://www.uniprot.org/uniprotkb/Q9CQ13" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CQ13", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQ13" } ] } ] }, { "uniprot_canonical_ac": "Q9CQ13-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ13", "url": "https://www.uniprot.org/uniprotkb/Q9CQ13" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CQ13", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQ13" } ] } ] } ], "record_id": "Q9CQ13-1" }, { "uniprot_canonical_ac": "P12787-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P12787", "url": "https://www.uniprot.org/uniprotkb/P12787" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 146, "chemical_mass": 16101.0, "gene_names": "Cox5a;CcOX;Cox5a", "protein_name": "Cytochrome c oxidase subunit 5A, mitochondrial", "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: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:0070505", "name": "mitochondrial complex IV deficiency nuclear type 20", "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2.", "url": "https://disease-ontology.org/term/DOID:0070505", "evidence": [ { "id": "0070505", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070505" } ], "weight": 0.0 }, { "disease_id": "DOID:3762", "name": "cytochrome-c oxidase deficiency disease", "description": "A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.", "url": "https://disease-ontology.org/term/DOID:3762", "evidence": [ { "id": "3762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3762" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P12787", "url": "https://www.uniprot.org/uniprotkb/P12787" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P12787", "url": "https://www.uniprot.org/uniprotkb/P12787" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P12787", "url": "https://www.uniprot.org/uniprotkb/P12787" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P12787", "url": "https://www.uniprot.org/uniprotkb/P12787" } ], "pmid": "" }, { "name": "respiratory chain complex IV", "id": "GO:0045277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045277", "evidence": [ { "database": "UniProtKB", "id": "P12787", "url": "https://www.uniprot.org/uniprotkb/P12787" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P12787", "url": "https://www.uniprot.org/uniprotkb/P12787" } ], "pmid": "" }, { "name": "cytochrome-c oxidase activity", "id": "GO:0004129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004129", "evidence": [ { "database": "UniProtKB", "id": "P12787", "url": "https://www.uniprot.org/uniprotkb/P12787" } ], "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": "P12787", "url": "https://www.uniprot.org/uniprotkb/P12787" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P12787-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Ser100", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 100, "start_aa": "Ser", "end_pos": 100, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser100", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P12787", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P12787" } ] } ] }, { "uniprot_canonical_ac": "P12787-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Thr137", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P12787", "url": "https://www.uniprot.org/uniprotkb/P12787" } ] } ] } ], "record_id": "P12787-1" }, { "uniprot_canonical_ac": "P39061-3", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1774, "chemical_mass": 182172.0, "gene_names": "Col18a1;Col18a1", "protein_name": "Collagen alpha-1(XVIII) chain", "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:0060680", "name": "pigment dispersion syndrome", "description": "An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma.", "url": "https://disease-ontology.org/term/DOID:0060680", "evidence": [ { "id": "0060680", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060680" } ], "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: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: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: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: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: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: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 } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" } ], "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": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" } ], "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": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" } ], "pmid": "" }, { "name": "endothelial cell morphogenesis", "id": "GO:0001886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001886", "evidence": [ { "database": "UniProtKB", "id": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" } ], "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": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P39061-3", "start_pos": "110", "end_pos": "110", "site_lbl": "Thr110", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 110, "start_aa": "Thr", "end_pos": 110, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr110", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P39061-3", "start_pos": "354", "end_pos": "354", "site_lbl": "Asn354", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 354, "start_aa": "Asn", "end_pos": 354, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn354", "evidence": [ { "id": "P39061", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P39061#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P39061-3", "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": "P39061", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P39061#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P39061-3", "start_pos": "585", "end_pos": "585", "site_lbl": "Asn585", "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": "DGQQNISLLYTEPGASQTQTGASFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 585, "start_aa": "Asn", "end_pos": 585, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn585", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 585, "start_aa": "Asn", "end_pos": 585, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn585", "evidence": [ { "id": "P39061", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P39061#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "P39061-3", "start_pos": "866", "end_pos": "866", "site_lbl": "Thr866", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 866, "start_aa": "Thr", "end_pos": 866, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr866", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P39061-3", "start_pos": "910", "end_pos": "910", "site_lbl": "Ser910", "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": 910, "start_aa": "Ser", "end_pos": 910, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser910", "evidence": [ { "id": "P39061", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P39061#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P39061-3", "start_pos": "947", "end_pos": "947", "site_lbl": "Asn947", "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": "FGINGSYAPGPAGLPGVPGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 947, "start_aa": "Asn", "end_pos": 947, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn947", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 947, "start_aa": "Asn", "end_pos": 947, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn947", "evidence": [ { "id": "P39061", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P39061#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P39061-3", "start_pos": "730", "end_pos": "730", "site_lbl": "Thr730", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" } ] } ] }, { "uniprot_canonical_ac": "P39061-3", "start_pos": "1591", "end_pos": "1591", "site_lbl": "His1591", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No effect on zinc binding.", "evidence": [ { "database": "UniProtKB", "id": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" }, { "database": "PubMed", "id": "10704302", "url": "https://glygen.org/publication/PubMed/10704302" } ] } ] }, { "uniprot_canonical_ac": "P39061-3", "start_pos": "1593", "end_pos": "1593", "site_lbl": "His1593", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Reduces zinc binding by 60%. Abolishes zinc binding; when associated with A-1595.", "evidence": [ { "database": "UniProtKB", "id": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" }, { "database": "PubMed", "id": "10704302", "url": "https://glygen.org/publication/PubMed/10704302" } ] } ] }, { "uniprot_canonical_ac": "P39061-3", "start_pos": "1595", "end_pos": "1595", "site_lbl": "Asp1595", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "No effect on zinc binding. Abolishes zinc binding; when associated with A-1593.", "evidence": [ { "database": "UniProtKB", "id": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" }, { "database": "PubMed", "id": "10704302", "url": "https://glygen.org/publication/PubMed/10704302" } ] } ] }, { "uniprot_canonical_ac": "P39061-3", "start_pos": "1666", "end_pos": "1666", "site_lbl": "Asp1666", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes zinc binding.", "evidence": [ { "database": "UniProtKB", "id": "P39061", "url": "https://www.uniprot.org/uniprotkb/P39061" }, { "database": "PubMed", "id": "10704302", "url": "https://glygen.org/publication/PubMed/10704302" } ] } ] } ], "record_id": "P39061-3" }, { "uniprot_canonical_ac": "P84086-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 134, "chemical_mass": 15394.0, "gene_names": "Cplx2;921-L;Cplx2;Gm34843", "protein_name": "Complexin-2", "disease": [ { "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: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": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "calyx of Held", "id": "GO:0044305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044305", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "SNARE complex", "id": "GO:0031201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031201", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex", "id": "GO:0070033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070033", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "positive regulation of synaptic plasticity", "id": "GO:0031915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031915", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle fusion to presynaptic active zone membrane", "id": "GO:0031630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031630", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "synaptic vesicle exocytosis", "id": "GO:0016079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016079", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "mast cell degranulation", "id": "GO:0043303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043303", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "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": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" }, { "name": "syntaxin-1 binding", "id": "GO:0017075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017075", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P84086-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Ser93", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P84086", "url": "https://www.uniprot.org/uniprotkb/P84086" } ] } ] } ], "record_id": "P84086-1" }, { "uniprot_canonical_ac": "Q9CPU9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CPU9", "url": "https://www.uniprot.org/uniprotkb/Q9CPU9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 143, "chemical_mass": 16069.0, "gene_names": "Slc31a2;CTR2;Slc31a2", "protein_name": "Protein SLC31A2", "disease": [ { "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": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9CPU9", "url": "https://www.uniprot.org/uniprotkb/Q9CPU9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9CPU9", "url": "https://www.uniprot.org/uniprotkb/Q9CPU9" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q9CPU9", "url": "https://www.uniprot.org/uniprotkb/Q9CPU9" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9CPU9", "url": "https://www.uniprot.org/uniprotkb/Q9CPU9" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q9CPU9", "url": "https://www.uniprot.org/uniprotkb/Q9CPU9" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q9CPU9", "url": "https://www.uniprot.org/uniprotkb/Q9CPU9" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q9CPU9", "url": "https://www.uniprot.org/uniprotkb/Q9CPU9" } ], "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": "Q9CPU9", "url": "https://www.uniprot.org/uniprotkb/Q9CPU9" } ], "pmid": "" }, { "name": "copper ion transport", "id": "GO:0006825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006825", "evidence": [ { "database": "UniProtKB", "id": "Q9CPU9", "url": "https://www.uniprot.org/uniprotkb/Q9CPU9" } ], "pmid": "" }, { "name": "copper ion import", "id": "GO:0015677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015677", "evidence": [ { "database": "UniProtKB", "id": "Q9CPU9", "url": "https://www.uniprot.org/uniprotkb/Q9CPU9" } ], "pmid": "" }, { "name": "regulation of copper ion transmembrane transport", "id": "GO:1902311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902311", "evidence": [ { "database": "UniProtKB", "id": "Q9CPU9", "url": "https://www.uniprot.org/uniprotkb/Q9CPU9" } ], "pmid": "" } ], "molecular_function": [ { "name": "copper ion transmembrane transporter activity", "id": "GO:0005375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005375", "evidence": [ { "database": "UniProtKB", "id": "Q9CPU9", "url": "https://www.uniprot.org/uniprotkb/Q9CPU9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CPU9-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Thr75", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CPU9", "url": "https://www.uniprot.org/uniprotkb/Q9CPU9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CPU9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CPU9" } ] } ] }, { "uniprot_canonical_ac": "Q9CPU9-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ser77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CPU9", "url": "https://www.uniprot.org/uniprotkb/Q9CPU9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CPU9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CPU9" } ] } ] } ], "record_id": "Q9CPU9-1" }, { "uniprot_canonical_ac": "Q60779-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 478, "chemical_mass": 56264.0, "gene_names": "Drc4;Gas8;Drc4;Gas11;Gas8", "protein_name": "Dynein regulatory complex subunit 4", "disease": [ { "disease_id": "DOID:0110619", "name": "primary ciliary dyskinesia 33", "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24.", "url": "https://disease-ontology.org/term/DOID:0110619", "evidence": [ { "id": "0110619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110619" } ], "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": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "9+2 motile cilium", "id": "GO:0097729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097729", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" } ], "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": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "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": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "protein localization to cilium", "id": "GO:0061512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061512", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "axoneme assembly", "id": "GO:0035082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035082", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "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": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60779-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Ala391", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Moderate decrease in cilia motility.", "evidence": [ { "database": "UniProtKB", "id": "Q60779", "url": "https://www.uniprot.org/uniprotkb/Q60779" }, { "database": "PubMed", "id": "27472056", "url": "https://glygen.org/publication/PubMed/27472056" } ] } ] } ], "record_id": "Q60779-1" }, { "uniprot_canonical_ac": "Q9WVH3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 505, "chemical_mass": 53649.0, "gene_names": "Foxo4;Afx1;Afxh;Afx;Fkhr3;Foxo4;Mllt7;afx", "protein_name": "Forkhead box protein O4", "disease": [ { "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: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:251", "name": "alcohol-induced mental disorder", "description": "", "url": "https://disease-ontology.org/term/DOID:251", "evidence": [ { "id": "251", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:251" } ], "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 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "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": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "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": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "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": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "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": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "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": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "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": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "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": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "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": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "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": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "negative regulation of G0 to G1 transition", "id": "GO:0070317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070317", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "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": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "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": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "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": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" }, { "name": "response to water-immersion restraint stress", "id": "GO:1990785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990785", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WVH3-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Ser197", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P31750-1", "kinase_gene_name": "Akt1", "evidence": [ { "database": "iPTMnet", "id": "Q9WVH3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVH3" }, { "database": "PubMed", "id": "10217147", "url": "https://glygen.org/publication/PubMed/10217147" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" }, { "database": "iPTMnet", "id": "Q9WVH3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVH3" }, { "database": "PubMed", "id": "29904119", "url": "https://glygen.org/publication/PubMed/29904119" } ] } ] }, { "uniprot_canonical_ac": "Q9WVH3-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Ser262", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P31750-1", "kinase_gene_name": "Akt1", "evidence": [ { "database": "iPTMnet", "id": "Q9WVH3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVH3" }, { "database": "PubMed", "id": "10217147", "url": "https://glygen.org/publication/PubMed/10217147" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" }, { "database": "iPTMnet", "id": "Q9WVH3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVH3" }, { "database": "PubMed", "id": "29904119", "url": "https://glygen.org/publication/PubMed/29904119" } ] } ] }, { "uniprot_canonical_ac": "Q9WVH3-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Thr32", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q60823-1", "kinase_gene_name": "Akt2", "evidence": [ { "database": "iPTMnet", "id": "Q9WVH3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVH3" }, { "database": "PubMed", "id": "11313479", "url": "https://glygen.org/publication/PubMed/11313479" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVH3", "url": "https://www.uniprot.org/uniprotkb/Q9WVH3" }, { "database": "iPTMnet", "id": "Q9WVH3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVH3" }, { "database": "PubMed", "id": "29904119", "url": "https://glygen.org/publication/PubMed/29904119" } ] } ] }, { "uniprot_canonical_ac": "Q9WVH3-1", "start_pos": "452", "end_pos": "452", "site_lbl": "Thr452", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P63321-1", "kinase_gene_name": "Rala", "evidence": [ { "database": "iPTMnet", "id": "Q9WVH3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVH3" }, { "database": "PubMed", "id": "11689711", "url": "https://glygen.org/publication/PubMed/11689711" } ] } ] } ], "record_id": "Q9WVH3-1" }, { "uniprot_canonical_ac": "B1AXV0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1AXV0", "url": "https://www.uniprot.org/uniprotkb/B1AXV0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 293, "chemical_mass": 32507.0, "gene_names": "Frrs1l;6430704M03Rik;Frrs1l", "protein_name": "DOMON domain-containing protein FRRS1L", "disease": [ { "disease_id": "DOID:0080435", "name": "developmental and epileptic encephalopathy 37", "description": "A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31.", "url": "https://disease-ontology.org/term/DOID:0080435", "evidence": [ { "id": "0080435", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080435" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of AMPA glutamate receptor clustering", "id": "GO:1904717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904717", "evidence": [ { "database": "UniProtKB", "id": "B1AXV0", "url": "https://www.uniprot.org/uniprotkb/B1AXV0" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, glutamatergic", "id": "GO:0051966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051966", "evidence": [ { "database": "UniProtKB", "id": "B1AXV0", "url": "https://www.uniprot.org/uniprotkb/B1AXV0" } ], "pmid": "" }, { "name": "regulation of glutamate receptor signaling pathway", "id": "GO:1900449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900449", "evidence": [ { "database": "UniProtKB", "id": "B1AXV0", "url": "https://www.uniprot.org/uniprotkb/B1AXV0" } ], "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": "B1AXV0", "url": "https://www.uniprot.org/uniprotkb/B1AXV0" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "B1AXV0", "url": "https://www.uniprot.org/uniprotkb/B1AXV0" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "B1AXV0", "url": "https://www.uniprot.org/uniprotkb/B1AXV0" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "B1AXV0", "url": "https://www.uniprot.org/uniprotkb/B1AXV0" } ], "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": "B1AXV0", "url": "https://www.uniprot.org/uniprotkb/B1AXV0" } ], "pmid": "" }, { "name": "dynein intermediate chain binding", "id": "GO:0045505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045505", "evidence": [ { "database": "UniProtKB", "id": "B1AXV0", "url": "https://www.uniprot.org/uniprotkb/B1AXV0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B1AXV0-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Thr65", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 65, "start_aa": "Thr", "end_pos": 65, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr65", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "B1AXV0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/B1AXV0" } ] } ] }, { "uniprot_canonical_ac": "B1AXV0-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Ser68", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 68, "start_aa": "Ser", "end_pos": 68, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser68", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "B1AXV0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/B1AXV0" } ] } ] }, { "uniprot_canonical_ac": "B1AXV0-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Thr85", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 85, "start_aa": "Thr", "end_pos": 85, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr85", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "B1AXV0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/B1AXV0" } ] }, { "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": 85, "start_aa": "Thr", "end_pos": 85, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr85", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "B1AXV0-1" }, { "uniprot_canonical_ac": "Q8BUY8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BUY8", "url": "https://www.uniprot.org/uniprotkb/Q8BUY8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 826, "chemical_mass": 92802.0, "gene_names": "Gprasp2;5330440H13Rik;GASP-2;GASP2;Gprasp2;Prpl5", "protein_name": "G protein-coupled receptor-associated sorting 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 }, { "disease_id": "DOID:0111738", "name": "X-linked deafness 7", "description": "An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1.", "url": "https://disease-ontology.org/term/DOID:0111738", "evidence": [ { "id": "0111738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111738" } ], "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": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BUY8", "url": "https://www.uniprot.org/uniprotkb/Q8BUY8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BUY8", "url": "https://www.uniprot.org/uniprotkb/Q8BUY8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BUY8", "url": "https://www.uniprot.org/uniprotkb/Q8BUY8" } ], "pmid": "" } ], "molecular_function": [ { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "Q8BUY8", "url": "https://www.uniprot.org/uniprotkb/Q8BUY8" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "Q8BUY8", "url": "https://www.uniprot.org/uniprotkb/Q8BUY8" } ], "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": "Q8BUY8", "url": "https://www.uniprot.org/uniprotkb/Q8BUY8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BUY8-1", "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": "Q8BUY8-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Ser275", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BUY8", "url": "https://www.uniprot.org/uniprotkb/Q8BUY8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BUY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BUY8" } ] } ] }, { "uniprot_canonical_ac": "Q8BUY8-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Ser277", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BUY8", "url": "https://www.uniprot.org/uniprotkb/Q8BUY8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BUY8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BUY8" } ] } ] } ], "record_id": "Q8BUY8-1" }, { "uniprot_canonical_ac": "Q922K9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 512, "chemical_mass": 58844.0, "gene_names": "Frk;BSK/IYK;BSK;Bsk;Frk;GTK;Iyk;RAK", "protein_name": "Tyrosine-protein kinase FRK", "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: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: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": "pattern recognition receptor signaling pathway", "id": "GO:0002221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002221", "evidence": [ { "database": "UniProtKB", "id": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ], "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": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ], "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": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ], "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": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ], "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": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ], "pmid": "" }, { "name": "symbiont-mediated suppression of cytoplasmic pattern recognition receptor signaling pathway", "id": "GO:0039537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039537", "evidence": [ { "database": "UniProtKB", "id": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ], "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": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ], "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": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q922K9-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Thr185", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ] } ] }, { "uniprot_canonical_ac": "Q922K9-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Tyr394", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q922K9-1", "kinase_gene_name": "Frk", "evidence": [ { "database": "UniProtKB", "id": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" }, { "database": "iPTMnet", "id": "Q922K9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q922K9" }, { "database": "PubMed", "id": "15186217", "url": "https://glygen.org/publication/PubMed/15186217" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922K9", "url": "https://www.uniprot.org/uniprotkb/Q922K9" } ] } ] }, { "uniprot_canonical_ac": "Q922K9-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Tyr497", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q922K9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q922K9" }, { "database": "PubMed", "id": "15186217", "url": "https://glygen.org/publication/PubMed/15186217" } ] } ] }, { "uniprot_canonical_ac": "Q922K9-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Tyr504", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q922K9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q922K9" }, { "database": "PubMed", "id": "15186217", "url": "https://glygen.org/publication/PubMed/15186217" } ] } ] } ], "record_id": "Q922K9-1" }, { "uniprot_canonical_ac": "Q99P91-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 574, "chemical_mass": 63676.0, "gene_names": "Gpnmb;DC-HIL;Dchil;Gpnmb;Hgfin;Nmb;ipd", "protein_name": "Transmembrane glycoprotein NMB", "disease": [ { "disease_id": "DOID:0060680", "name": "pigment dispersion syndrome", "description": "An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma.", "url": "https://disease-ontology.org/term/DOID:0060680", "evidence": [ { "id": "0060680", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060680" } ], "weight": 0.0 }, { "disease_id": "DOID:0080932", "name": "primary localized cutaneous amyloidosis 3", "description": "A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions.", "url": "https://disease-ontology.org/term/DOID:0080932", "evidence": [ { "id": "0080932", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080932" } ], "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": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "pmid": "" }, { "name": "syndecan binding", "id": "GO:0045545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045545", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "pmid": "" }, { "name": "melanosome membrane", "id": "GO:0033162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033162", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "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": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "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": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "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": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "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": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "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": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "pmid": "" }, { "name": "regulation of tissue remodeling", "id": "GO:0034103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034103", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "pmid": "" }, { "name": "negative regulation of cytokine production", "id": "GO:0001818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001818", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99P91-1", "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": "Q99P91", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99P91#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NWT->SWT); glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49022272", "evidence": [ { "id": "rs3396794548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396794548" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Asn200", "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": "VSINTVNLTAGPQVMEVTVFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 200, "start_aa": "Asn", "end_pos": 200, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn200", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 200, "start_aa": "Asn", "end_pos": 200, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn200", "evidence": [ { "id": "Q99P91", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99P91#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Asn249", "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": "NLSDEIFLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 249, "start_aa": "Asn", "end_pos": 249, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn249", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 249, "start_aa": "Asn", "end_pos": 249, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn249", "evidence": [ { "id": "Q99P91", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99P91#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLS->ILS); glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49024715", "evidence": [ { "id": "rs3388823297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388823297" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "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": "Q99P91", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99P91#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "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": "Q99P91", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99P91#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Asn300", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q99P91", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99P91#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Asn306", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q99P91", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99P91#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Asn312", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 312, "start_aa": "Asn", "end_pos": 312, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn312", "evidence": [ { "id": "Q99P91", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99P91#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NLT->HLT); glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49024903", "evidence": [ { "id": "rs3388830386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388830386" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "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": "Q99P91-1", "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" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "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": "Q99P91-1", "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" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49028009", "evidence": [ { "id": "rs3388832589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388832589" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "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": "Q99P91", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99P91#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "471", "end_pos": "471", "site_lbl": "Asn471", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 471, "start_aa": "Asn", "end_pos": 471, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn471", "evidence": [ { "id": "Q99P91", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99P91#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Asn93", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 93, "start_aa": "Asn", "end_pos": 93, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn93", "evidence": [ { "id": "Q99P91", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99P91#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Ser546", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99P91", "url": "https://www.uniprot.org/uniprotkb/Q99P91" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q99P91", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99P91" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49033159", "evidence": [ { "id": "rs3388831714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388831714" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Val115", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49021050", "evidence": [ { "id": "rs3544254088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544254088" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Cys120", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49021066", "evidence": [ { "id": "rs3388826266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388826266" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "131", "end_pos": "131", "site_lbl": "His131", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49022262", "evidence": [ { "id": "rs1132123430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132123430" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Ala139", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49022286", "evidence": [ { "id": "rs3396732023", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396732023" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Asp143", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49022299", "evidence": [ { "id": "rs3388826215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388826215" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Arg150", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49022319", "evidence": [ { "id": "rs47598337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47598337" } ] }, { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49022319", "evidence": [ { "id": "rs47598337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47598337" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Ser151", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49022322", "evidence": [ { "id": "rs3388826277", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388826277" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Gln185", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49024239", "evidence": [ { "id": "rs3395963489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395963489" } ] }, { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49024241", "evidence": [ { "id": "rs3388797014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388797014" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Ile221", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49024348", "evidence": [ { "id": "rs3388826231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388826231" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Arg24", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49019701", "evidence": [ { "id": "rs3388826226", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388826226" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Leu274", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49024789", "evidence": [ { "id": "rs3388828816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388828816" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Ser280", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49024807", "evidence": [ { "id": "rs3388826579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388826579" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Lys282", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49024815", "evidence": [ { "id": "rs37703816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37703816" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Leu311", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49024901", "evidence": [ { "id": "rs3388823844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388823844" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Gln316", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49024917", "evidence": [ { "id": "rs3388828768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388828768" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Pro324", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49024939", "evidence": [ { "id": "rs3388831724", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388831724" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Pro331", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49024961", "evidence": [ { "id": "rs231431030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231431030" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Tyr34", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49019730", "evidence": [ { "id": "rs3388829957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388829957" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Gly359", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49027353", "evidence": [ { "id": "rs3388819915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388819915" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Asp36", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49019736", "evidence": [ { "id": "rs13478745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13478745" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Asn372", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49027391", "evidence": [ { "id": "rs3388819912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388819912" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "407", "end_pos": "407", "site_lbl": "Pro407", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49028012", "evidence": [ { "id": "rs248518689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248518689" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Ala410", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49028021", "evidence": [ { "id": "rs263840396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs263840396" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Met414", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49028032", "evidence": [ { "id": "rs232553298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232553298" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Val418", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49028044", "evidence": [ { "id": "rs3388832579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388832579" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Asn42", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49019755", "evidence": [ { "id": "rs3388832518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388832518" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Ala440", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49028801", "evidence": [ { "id": "rs5527561334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527561334" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Arg443", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49028811", "evidence": [ { "id": "rs236326090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236326090" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Ala461", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49028864", "evidence": [ { "id": "rs254278423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254278423" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Asp476", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49028909", "evidence": [ { "id": "rs3388807944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388807944" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Trp47", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49019771", "evidence": [ { "id": "rs3388828801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388828801" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Leu498", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49032570", "evidence": [ { "id": "rs3388829934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388829934" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "499", "end_pos": "499", "site_lbl": "Arg499", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49032572", "evidence": [ { "id": "rs3388797043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388797043" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Val504", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49032588", "evidence": [ { "id": "rs223639287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223639287" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Leu505", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49032590", "evidence": [ { "id": "rs3388823860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388823860" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "514", "end_pos": "514", "site_lbl": "Leu514", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49032617", "evidence": [ { "id": "rs38890885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs38890885" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "526", "end_pos": "526", "site_lbl": "His526", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49033099", "evidence": [ { "id": "rs3388829961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388829961" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Asn534", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49033123", "evidence": [ { "id": "rs3388816976", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388816976" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "538", "end_pos": "538", "site_lbl": "Asn538", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49033135", "evidence": [ { "id": "rs3388835910", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388835910" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Trp54", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49019790", "evidence": [ { "id": "rs3388816935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388816935" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Ala552", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49033177", "evidence": [ { "id": "rs3388813023", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388813023" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Gly559", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49033198", "evidence": [ { "id": "rs3388807931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388807931" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "572", "end_pos": "572", "site_lbl": "Arg572", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "KT*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49033237_49033238insAGACTTAGAGTGTCCTTGGCTTGT", "evidence": [ { "id": "rs3396732075", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396732075" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Arg77", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "LHTAS*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49020936_49020937insTGCACACGGCCTCCTAGGGCAGGAAAGAAC", "evidence": [ { "id": "rs3396732076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396732076" } ] } ] }, { "uniprot_canonical_ac": "Q99P91-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Asp85", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/misc. glycan-binding/gag-binding.", "chr_id": "6", "chr_pos": "49020961", "evidence": [ { "id": "rs3388826224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388826224" } ] } ] } ], "record_id": "Q99P91-1" }, { "uniprot_canonical_ac": "O08842-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08842", "url": "https://www.uniprot.org/uniprotkb/O08842" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 464, "chemical_mass": 51727.0, "gene_names": "Gfra2;Gdnfrb;Gfra2;Trnr2", "protein_name": "GDNF family receptor alpha-2", "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 } ], "biological_process": [ { "name": "glial cell-derived neurotrophic factor receptor signaling pathway", "id": "GO:0035860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035860", "evidence": [ { "database": "UniProtKB", "id": "O08842", "url": "https://www.uniprot.org/uniprotkb/O08842" } ], "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": "O08842", "url": "https://www.uniprot.org/uniprotkb/O08842" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "O08842", "url": "https://www.uniprot.org/uniprotkb/O08842" } ], "pmid": "" }, { "name": "negative regulation of protein autophosphorylation", "id": "GO:0031953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031953", "evidence": [ { "database": "UniProtKB", "id": "O08842", "url": "https://www.uniprot.org/uniprotkb/O08842" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via STAT", "id": "GO:1904894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904894", "evidence": [ { "database": "UniProtKB", "id": "O08842", "url": "https://www.uniprot.org/uniprotkb/O08842" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O08842", "url": "https://www.uniprot.org/uniprotkb/O08842" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "O08842", "url": "https://www.uniprot.org/uniprotkb/O08842" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O08842", "url": "https://www.uniprot.org/uniprotkb/O08842" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "O08842", "url": "https://www.uniprot.org/uniprotkb/O08842" } ], "pmid": "" } ], "molecular_function": [ { "name": "heparan sulfate binding", "id": "GO:1904399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904399", "evidence": [ { "database": "UniProtKB", "id": "O08842", "url": "https://www.uniprot.org/uniprotkb/O08842" } ], "pmid": "" }, { "name": "glial cell-derived neurotrophic factor receptor activity", "id": "GO:0016167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016167", "evidence": [ { "database": "UniProtKB", "id": "O08842", "url": "https://www.uniprot.org/uniprotkb/O08842" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "O08842", "url": "https://www.uniprot.org/uniprotkb/O08842" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O08842-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Asn357", "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": "NAIQAFGNGTDVNMSPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 357, "start_aa": "Asn", "end_pos": 357, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn357", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 357, "start_aa": "Asn", "end_pos": 357, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn357", "evidence": [ { "id": "O08842", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08842#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08842-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Asn362", "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": "NAIQAFGNGTDVNMSPK", "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" } ] } ] }, { "uniprot_canonical_ac": "O08842-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Asn413", "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": "ANNSKELSMCFTELTTNISPGSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 413, "start_aa": "Asn", "end_pos": 413, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn413", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 413, "start_aa": "Asn", "end_pos": 413, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn413", "evidence": [ { "id": "O08842", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08842#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O08842-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Asn428", "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": "ELSMCFTELTTNISPGSK", "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": "O08842-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Asn52", "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": "ANELCAAESNCSSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 52, "start_aa": "Asn", "end_pos": 52, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn52", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 52, "start_aa": "Asn", "end_pos": 52, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn52", "evidence": [ { "id": "O08842", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O08842#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->YCS).", "chr_id": "14", "chr_pos": "71133325", "evidence": [ { "id": "rs3389348964", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389348964" } ] } ] }, { "uniprot_canonical_ac": "O08842-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Ser54", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCS->NCR).", "chr_id": "14", "chr_pos": "71133333", "evidence": [ { "id": "rs3389296445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389296445" } ] } ] } ], "record_id": "O08842-1" }, { "uniprot_canonical_ac": "O35659-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 463, "chemical_mass": 53028.0, "gene_names": "Glp1r;GLP-1R;GLP1Rc;Glp1r", "protein_name": "Glucagon-like peptide 1 receptor", "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: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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "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": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "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": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "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": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "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": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "positive regulation of blood pressure", "id": "GO:0045777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045777", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "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": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": "GO:0051924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051924", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "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": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "feeding behavior", "id": "GO:0007631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007631", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "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": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "response to psychosocial stress", "id": "GO:1990911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990911", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "hormone secretion", "id": "GO:0046879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046879", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "insulin secretion", "id": "GO:0030073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030073", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "post-translational protein targeting to membrane, translocation", "id": "GO:0031204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031204", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "cAMP/PKA signal transduction", "id": "GO:0141156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141156", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" } ], "molecular_function": [ { "name": "peptide hormone binding", "id": "GO:0017046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017046", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "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": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "glucagon receptor activity", "id": "GO:0004967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004967", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "glucagon-like peptide 1 receptor activity", "id": "GO:0044508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044508", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" }, { "name": "peptide receptor activity", "id": "GO:0001653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001653", "evidence": [ { "database": "UniProtKB", "id": "O35659", "url": "https://www.uniprot.org/uniprotkb/O35659" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35659-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Asn115", "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": "DNSSLPWR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 115, "start_aa": "Asn", "end_pos": 115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn115", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 115, "start_aa": "Asn", "end_pos": 115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn115", "evidence": [ { "id": "O35659", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35659#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35659-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Asn63", "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": "FLTEAPLLATGLFCNR", "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": "", "type": "N-linked", "subtype": "", "prediction_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": "O35659", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35659#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35659-1", "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": "O35659", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35659#ptm_processing" } ] } ] } ], "record_id": "O35659-1" }, { "uniprot_canonical_ac": "Q8BMF8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BMF8", "url": "https://www.uniprot.org/uniprotkb/Q8BMF8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 549, "chemical_mass": 59137.0, "gene_names": "Gldn;CRG-L2;Clom;Colm;Crgl2;Crlg2;Gldn", "protein_name": "Gliomedin", "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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8BMF8", "url": "https://www.uniprot.org/uniprotkb/Q8BMF8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BMF8", "url": "https://www.uniprot.org/uniprotkb/Q8BMF8" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q8BMF8", "url": "https://www.uniprot.org/uniprotkb/Q8BMF8" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q8BMF8", "url": "https://www.uniprot.org/uniprotkb/Q8BMF8" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8BMF8", "url": "https://www.uniprot.org/uniprotkb/Q8BMF8" } ], "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": "Q8BMF8", "url": "https://www.uniprot.org/uniprotkb/Q8BMF8" } ], "pmid": "" }, { "name": "microvillus organization", "id": "GO:0032528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032528", "evidence": [ { "database": "UniProtKB", "id": "Q8BMF8", "url": "https://www.uniprot.org/uniprotkb/Q8BMF8" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein binding involved in heterotypic cell-cell adhesion", "id": "GO:0086080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086080", "evidence": [ { "database": "UniProtKB", "id": "Q8BMF8", "url": "https://www.uniprot.org/uniprotkb/Q8BMF8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BMF8-1", "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": "Q8BMF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BMF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BMF8-1", "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": "Q8BMF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BMF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BMF8-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Asn326", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 326, "start_aa": "Asn", "end_pos": 326, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn326", "evidence": [ { "id": "Q8BMF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BMF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BMF8-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Asn354", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 354, "start_aa": "Asn", "end_pos": 354, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn354", "evidence": [ { "id": "Q8BMF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BMF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BMF8-1", "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": "Q8BMF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BMF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BMF8-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Asn461", "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": "TFSVTQHINTTYPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 461, "start_aa": "Asn", "end_pos": 461, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn461", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 461, "start_aa": "Asn", "end_pos": 461, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn461", "evidence": [ { "id": "Q8BMF8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BMF8#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BMF8-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Arg91", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes furin-mediated cleavage and shedding of ectodomain.", "evidence": [ { "database": "UniProtKB", "id": "Q8BMF8", "url": "https://www.uniprot.org/uniprotkb/Q8BMF8" }, { "database": "PubMed", "id": "17293346", "url": "https://glygen.org/publication/PubMed/17293346" } ] } ] } ], "record_id": "Q8BMF8-1" }, { "uniprot_canonical_ac": "P31316-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 305, "chemical_mass": 32167.0, "gene_names": "Gsx2;Gsh-2;Gsh2;Gsx2", "protein_name": "GS homeobox 2", "disease": [], "biological_process": [ { "name": "subpallium development", "id": "GO:0021544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021544", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte differentiation", "id": "GO:0048714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048714", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "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": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "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": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "spinal cord association neuron differentiation", "id": "GO:0021527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021527", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "neuron fate specification", "id": "GO:0048665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048665", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "subpallium neuron fate commitment", "id": "GO:0060163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060163", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "generation of neurons", "id": "GO:0048699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048699", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "forebrain dorsal/ventral pattern formation", "id": "GO:0021798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021798", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "forebrain morphogenesis", "id": "GO:0048853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048853", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "olfactory bulb interneuron differentiation", "id": "GO:0021889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021889", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "telencephalon regionalization", "id": "GO:0021978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021978", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "olfactory bulb development", "id": "GO:0021772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "hindbrain morphogenesis", "id": "GO:0021575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021575", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "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": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "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": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P31316", "url": "https://www.uniprot.org/uniprotkb/P31316" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P31316-1" }, { "uniprot_canonical_ac": "P43274-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 219, "chemical_mass": 21977.0, "gene_names": "H1-4;H1 VAR.2;H1-4;H1.4;H1e;H1f4;H1s-4;H1var2;Hist1h1e", "protein_name": "Histone H1.4", "disease": [], "molecular_function": [ { "name": "dATP binding", "id": "GO:0032564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032564", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" }, { "name": "AMP binding", "id": "GO:0016208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016208", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" }, { "name": "nucleosomal DNA binding", "id": "GO:0031492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031492", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" } ], "biological_process": [ { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" }, { "name": "chromosome condensation", "id": "GO:0030261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030261", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" }, { "name": "negative regulation of DNA recombination", "id": "GO:0045910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045910", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P43274-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Thr146", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ] } ] }, { "uniprot_canonical_ac": "P43274-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Ser187", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ] } ] }, { "uniprot_canonical_ac": "P43274-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Thr18", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "P43274", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P43274" } ] } ] }, { "uniprot_canonical_ac": "P43274-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" } ] } ] }, { "uniprot_canonical_ac": "P43274-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Ser36", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43274", "url": "https://www.uniprot.org/uniprotkb/P43274" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P43274", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P43274" } ] } ] } ], "record_id": "P43274-1" }, { "uniprot_canonical_ac": "Q80TI0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 738, "chemical_mass": 85355.0, "gene_names": "Gramd1b;3222402H23;A930008A22Rik;Gramd1b;Kiaa1201;mKIAA1201", "protein_name": "Protein Aster-B", "disease": [], "biological_process": [ { "name": "intracellular sterol transport", "id": "GO:0032366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032366", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ], "pmid": "" }, { "name": "cellular response to cholesterol", "id": "GO:0071397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071397", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ], "pmid": "" }, { "name": "lysosome to ER cholesterol transport", "id": "GO:0090120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090120", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ], "pmid": "" }, { "name": "endoplasmic reticulum-plasma membrane contact site", "id": "GO:0140268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140268", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ], "pmid": "" }, { "name": "organelle", "id": "GO:0043226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043226", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ], "pmid": "" } ], "molecular_function": [ { "name": "cholesterol binding", "id": "GO:0015485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015485", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ], "pmid": "" }, { "name": "phosphatidic acid binding", "id": "GO:0070300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070300", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ], "pmid": "" }, { "name": "cholesterol transfer activity", "id": "GO:0120020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120020", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80TI0-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Asn14", "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": "DESTASNSNR", "relation": "attached", "comment": "reported site N41 is on non-canonical isoform A0A1D5RLT6-1 which maps to canonical isoform site Q80TI0-1:14", "icn3d_view": {}, "start_pos": 14, "start_aa": "Asn", "end_pos": 14, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn14", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q80TI0-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Asn284", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G42260PH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KSITNSTLTSTGSSEAPVSFDGLPLEEEVMEGDGSLEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 284, "start_aa": "Asn", "end_pos": 284, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn284", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q80TI0-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Ser274", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TI0" } ] } ] }, { "uniprot_canonical_ac": "Q80TI0-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Ser28", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TI0" } ] } ] }, { "uniprot_canonical_ac": "Q80TI0-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Ser30", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TI0" } ] } ] }, { "uniprot_canonical_ac": "Q80TI0-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Tyr389", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ] } ] }, { "uniprot_canonical_ac": "Q80TI0-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Ser550", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ] } ] }, { "uniprot_canonical_ac": "Q80TI0-1", "start_pos": "581", "end_pos": "581", "site_lbl": "Ser581", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" } ] } ] }, { "uniprot_canonical_ac": "Q80TI0-1", "start_pos": "584", "end_pos": "584", "site_lbl": "Thr584", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TI0" } ] } ] }, { "uniprot_canonical_ac": "Q80TI0-1", "start_pos": "585", "end_pos": "585", "site_lbl": "Thr585", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TI0" } ] } ] }, { "uniprot_canonical_ac": "Q80TI0-1", "start_pos": "587", "end_pos": "587", "site_lbl": "Thr587", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TI0", "url": "https://www.uniprot.org/uniprotkb/Q80TI0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TI0" } ] } ] }, { "uniprot_canonical_ac": "Q80TI0-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Ile136", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NWI->NWT).", "chr_id": "9", "chr_pos": "40228198", "evidence": [ { "id": "rs3389011520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389011520" } ] } ] }, { "uniprot_canonical_ac": "Q80TI0-1", "start_pos": "556", "end_pos": "556", "site_lbl": "Ser556", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SKS->NKS).", "chr_id": "9", "chr_pos": "40215750", "evidence": [ { "id": "rs37207160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37207160" } ] } ] } ], "record_id": "Q80TI0-1" }, { "uniprot_canonical_ac": "Q8BWS5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BWS5", "url": "https://www.uniprot.org/uniprotkb/Q8BWS5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 763, "chemical_mass": 80485.0, "gene_names": "Gprin3;C030038J10Rik;C730021L23;Gprin3;Kiaa2027", "protein_name": "G protein-regulated inducer of neurite outgrowth 3", "disease": [], "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": "Q8BWS5", "url": "https://www.uniprot.org/uniprotkb/Q8BWS5" } ], "pmid": "" }, { "name": "excitatory chemical synaptic transmission", "id": "GO:0098976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098976", "evidence": [ { "database": "UniProtKB", "id": "Q8BWS5", "url": "https://www.uniprot.org/uniprotkb/Q8BWS5" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q8BWS5", "url": "https://www.uniprot.org/uniprotkb/Q8BWS5" } ], "pmid": "" }, { "name": "neuronal action potential", "id": "GO:0019228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019228", "evidence": [ { "database": "UniProtKB", "id": "Q8BWS5", "url": "https://www.uniprot.org/uniprotkb/Q8BWS5" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q8BWS5", "url": "https://www.uniprot.org/uniprotkb/Q8BWS5" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "Q8BWS5", "url": "https://www.uniprot.org/uniprotkb/Q8BWS5" } ], "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": "Q8BWS5", "url": "https://www.uniprot.org/uniprotkb/Q8BWS5" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BWS5", "url": "https://www.uniprot.org/uniprotkb/Q8BWS5" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8BWS5", "url": "https://www.uniprot.org/uniprotkb/Q8BWS5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BWS5-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Asn247", "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": "QPSATALNTTAER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 247, "start_aa": "Asn", "end_pos": 247, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn247", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8BWS5-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Thr394", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 394, "start_aa": "Thr", "end_pos": 394, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr394", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BWS5-1", "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": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q8BWS5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BWS5" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q8BWS5-1", "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": "Q8BWS5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BWS5" } ] } ] }, { "uniprot_canonical_ac": "Q8BWS5-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Ser323", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BWS5", "url": "https://www.uniprot.org/uniprotkb/Q8BWS5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BWS5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BWS5" } ] } ] }, { "uniprot_canonical_ac": "Q8BWS5-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Ser359", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BWS5", "url": "https://www.uniprot.org/uniprotkb/Q8BWS5" }, { "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": "Q8BWS5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BWS5" } ] } ] } ], "record_id": "Q8BWS5-1" }, { "uniprot_canonical_ac": "Q9DB00-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DB00", "url": "https://www.uniprot.org/uniprotkb/Q9DB00" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2260, "chemical_mass": 248742.0, "gene_names": "Gon4l;1500041I23Rik;2610100B20Rik;3632445O20Rik;5430404N14Rik;AA387005;Gon4l;Gon4;Kiaa1606", "protein_name": "GON-4-like protein", "disease": [ { "disease_id": "DOID:8850", "name": "salivary gland cancer", "description": "An oral cavity cancer that is located_in the salivary gland.", "url": "https://disease-ontology.org/term/DOID:8850", "evidence": [ { "id": "8850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8850" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DB00", "url": "https://www.uniprot.org/uniprotkb/Q9DB00" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9DB00", "url": "https://www.uniprot.org/uniprotkb/Q9DB00" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9DB00", "url": "https://www.uniprot.org/uniprotkb/Q9DB00" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q9DB00", "url": "https://www.uniprot.org/uniprotkb/Q9DB00" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9DB00", "url": "https://www.uniprot.org/uniprotkb/Q9DB00" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q9DB00", "url": "https://www.uniprot.org/uniprotkb/Q9DB00" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9DB00", "url": "https://www.uniprot.org/uniprotkb/Q9DB00" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9DB00", "url": "https://www.uniprot.org/uniprotkb/Q9DB00" } ], "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": "Q9DB00", "url": "https://www.uniprot.org/uniprotkb/Q9DB00" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "Q9DB00", "url": "https://www.uniprot.org/uniprotkb/Q9DB00" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q9DB00", "url": "https://www.uniprot.org/uniprotkb/Q9DB00" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q9DB00", "url": "https://www.uniprot.org/uniprotkb/Q9DB00" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DB00-1", "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" } ] } ] }, { "uniprot_canonical_ac": "Q9DB00-1", "start_pos": "1925", "end_pos": "1925", "site_lbl": "Ser1925", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DB00", "url": "https://www.uniprot.org/uniprotkb/Q9DB00" } ] } ] }, { "uniprot_canonical_ac": "Q9DB00-1", "start_pos": "1998", "end_pos": "1998", "site_lbl": "Ser1998", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DB00", "url": "https://www.uniprot.org/uniprotkb/Q9DB00" } ] } ] }, { "uniprot_canonical_ac": "Q9DB00-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Ser347", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DB00", "url": "https://www.uniprot.org/uniprotkb/Q9DB00" } ] } ] }, { "uniprot_canonical_ac": "Q9DB00-1", "start_pos": "784", "end_pos": "784", "site_lbl": "Ser784", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DB00", "url": "https://www.uniprot.org/uniprotkb/Q9DB00" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DB00", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DB00" } ] } ] }, { "uniprot_canonical_ac": "Q9DB00-1", "start_pos": "885", "end_pos": "885", "site_lbl": "Ala885", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRA->NRS).", "chr_id": "3", "chr_pos": "88799955", "evidence": [ { "id": "rs3541528643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3541528643" } ] } ] } ], "record_id": "Q9DB00-1" }, { "uniprot_canonical_ac": "Q9DCM2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DCM2", "url": "https://www.uniprot.org/uniprotkb/Q9DCM2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 226, "chemical_mass": 25704.0, "gene_names": "Gstk1;0610025I19Rik;DsbA-L;Gstk1", "protein_name": "Glutathione S-transferase kappa 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: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 } ], "molecular_function": [ { "name": "glutathione transferase activity", "id": "GO:0004364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004364", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM2", "url": "https://www.uniprot.org/uniprotkb/Q9DCM2" } ], "pmid": "" }, { "name": "glutathione peroxidase activity", "id": "GO:0004602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004602", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM2", "url": "https://www.uniprot.org/uniprotkb/Q9DCM2" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM2", "url": "https://www.uniprot.org/uniprotkb/Q9DCM2" } ], "pmid": "" } ], "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": "Q9DCM2", "url": "https://www.uniprot.org/uniprotkb/Q9DCM2" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM2", "url": "https://www.uniprot.org/uniprotkb/Q9DCM2" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM2", "url": "https://www.uniprot.org/uniprotkb/Q9DCM2" } ], "pmid": "" }, { "name": "response to manganese ion", "id": "GO:0010042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010042", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM2", "url": "https://www.uniprot.org/uniprotkb/Q9DCM2" } ], "pmid": "" }, { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM2", "url": "https://www.uniprot.org/uniprotkb/Q9DCM2" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM2", "url": "https://www.uniprot.org/uniprotkb/Q9DCM2" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM2", "url": "https://www.uniprot.org/uniprotkb/Q9DCM2" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM2", "url": "https://www.uniprot.org/uniprotkb/Q9DCM2" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM2", "url": "https://www.uniprot.org/uniprotkb/Q9DCM2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DCM2", "url": "https://www.uniprot.org/uniprotkb/Q9DCM2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9DCM2-1" }, { "uniprot_canonical_ac": "P43275-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 213, "chemical_mass": 21785.0, "gene_names": "H1-1;H1-1;H1.1;H1a;H1f1;H1var3;Hist1h1a", "protein_name": "Histone H1.1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ], "pmid": "" }, { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ], "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": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ], "pmid": "" }, { "name": "chromosome condensation", "id": "GO:0030261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030261", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ], "pmid": "" }, { "name": "negative regulation of DNA recombination", "id": "GO:0045910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045910", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ], "pmid": "" } ], "molecular_function": [ { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ], "pmid": "" }, { "name": "nucleosomal DNA binding", "id": "GO:0031492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031492", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P43275-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Ser106", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ] } ] }, { "uniprot_canonical_ac": "P43275-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ] } ] }, { "uniprot_canonical_ac": "P43275-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Thr201", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P43275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P43275" } ] } ] }, { "uniprot_canonical_ac": "P43275-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ] } ] }, { "uniprot_canonical_ac": "P43275-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Ser43", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ] } ] }, { "uniprot_canonical_ac": "P43275-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Ser67", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P43275", "url": "https://www.uniprot.org/uniprotkb/P43275" } ] } ] } ], "record_id": "P43275-1" }, { "uniprot_canonical_ac": "P97772-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1199, "chemical_mass": 133212.0, "gene_names": "Grm1;4930455H15Rik;Gm10828;Gprc1a;Grm1;Mglur1;mGluR1;nmf373;rcw;wobl", "protein_name": "Metabotropic glutamate receptor 1", "disease": [ { "disease_id": "DOID:0080062", "name": "autosomal recessive spinocerebellar ataxia 13", "description": "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24.", "url": "https://disease-ontology.org/term/DOID:0080062", "evidence": [ { "id": "0080062", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080062" } ], "weight": 0.0 }, { "disease_id": "DOID:0080286", "name": "spinocerebellar ataxia 44", "description": "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24.", "url": "https://disease-ontology.org/term/DOID:0080286", "evidence": [ { "id": "0080286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080286" } ], "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:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells.", "url": "https://disease-ontology.org/term/DOID:6039", "evidence": [ { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ], "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 } ], "molecular_function": [ { "name": "PLC activating G protein-coupled glutamate receptor activity", "id": "GO:0001639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001639", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "adenylate cyclase inhibiting G protein-coupled glutamate receptor activity", "id": "GO:0001640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001640", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential", "id": "GO:0099530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099530", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "glutamate receptor activity", "id": "GO:0008066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008066", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration", "id": "GO:0099583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099583", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration", "id": "GO:0098872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098872", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "neuron spine", "id": "GO:0044309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044309", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "G protein-coupled receptor dimeric complex", "id": "GO:0038037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038037", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "G protein-coupled receptor homodimeric complex", "id": "GO:0038038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038038", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "dendriole", "id": "GO:0044293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044293", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" } ], "biological_process": [ { "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": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "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": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "regulation of sensory perception of pain", "id": "GO:0051930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051930", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "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": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, glutamatergic", "id": "GO:0051966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051966", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "cellular response to electrical stimulus", "id": "GO:0071257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071257", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "L-glutamate import across plasma membrane", "id": "GO:0098712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098712", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "G protein-coupled glutamate receptor signaling pathway", "id": "GO:0007216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007216", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" }, { "name": "synaptic signaling via neuropeptide", "id": "GO:0099538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099538", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97772-1", "start_pos": "1063", "end_pos": "1063", "site_lbl": "Thr1063", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1063, "start_aa": "Thr", "end_pos": 1063, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1063", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P97772-1", "start_pos": "1168", "end_pos": "1168", "site_lbl": "Ser1168", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1168, "start_aa": "Ser", "end_pos": 1168, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1168", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P97772", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P97772" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "P97772-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Asn223", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 223, "start_aa": "Asn", "end_pos": 223, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn223", "evidence": [ { "id": "P97772", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97772#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97772-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Asn397", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G93910IH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KVCTGNESLEENYVQDSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 397, "start_aa": "Asn", "end_pos": 397, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn397", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 397, "start_aa": "Asn", "end_pos": 397, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn397", "evidence": [ { "id": "P97772", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97772#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97772-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Asn515", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "P97772", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97772#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97772-1", "start_pos": "747", "end_pos": "747", "site_lbl": "Asn747", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 747, "start_aa": "Asn", "end_pos": 747, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn747", "evidence": [ { "id": "P97772", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97772#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTS->STS).", "chr_id": "10", "chr_pos": "10595387", "evidence": [ { "id": "rs3389085362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389085362" } ] } ] }, { "uniprot_canonical_ac": "P97772-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Asn98", "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": "INADPVLLPNITLGSEIR", "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": "P97772", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97772#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97772-1", "start_pos": "1097", "end_pos": "1097", "site_lbl": "Ser1097", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97772", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97772" } ] } ] }, { "uniprot_canonical_ac": "P97772-1", "start_pos": "1147", "end_pos": "1147", "site_lbl": "Ser1147", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97772", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97772" } ] } ] }, { "uniprot_canonical_ac": "P97772-1", "start_pos": "1151", "end_pos": "1151", "site_lbl": "Thr1151", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ] } ] }, { "uniprot_canonical_ac": "P97772-1", "start_pos": "1154", "end_pos": "1154", "site_lbl": "Ser1154", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97772", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97772" } ] } ] }, { "uniprot_canonical_ac": "P97772-1", "start_pos": "853", "end_pos": "853", "site_lbl": "Ser853", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97772", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97772" } ] } ] }, { "uniprot_canonical_ac": "P97772-1", "start_pos": "871", "end_pos": "871", "site_lbl": "Thr871", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97772", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97772" } ] } ] }, { "uniprot_canonical_ac": "P97772-1", "start_pos": "894", "end_pos": "894", "site_lbl": "Ser894", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" } ] } ] }, { "uniprot_canonical_ac": "P97772-1", "start_pos": "969", "end_pos": "969", "site_lbl": "Ser969", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97772", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97772" } ] } ] }, { "uniprot_canonical_ac": "P97772-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Thr225", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NWT->NWI).", "chr_id": "10", "chr_pos": "10955609", "evidence": [ { "id": "rs3389088415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389088415" } ] } ] }, { "uniprot_canonical_ac": "P97772-1", "start_pos": "536", "end_pos": "536", "site_lbl": "Ile536", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Normal response to light but reduced retinal electrical activity in response to light in dark adapted retinas. Gross morphology is normal.", "evidence": [ { "database": "UniProtKB", "id": "P97772", "url": "https://www.uniprot.org/uniprotkb/P97772" }, { "database": "PubMed", "id": "26427409", "url": "https://glygen.org/publication/PubMed/26427409" } ] } ] } ], "record_id": "P97772-1" }, { "uniprot_canonical_ac": "Q14DK4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q14DK4", "url": "https://www.uniprot.org/uniprotkb/Q14DK4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 801, "chemical_mass": 89150.0, "gene_names": "Gpat2;A530057A03Rik;Gm116;Gpat2;xGPAT1", "protein_name": "Glycerol-3-phosphate acyltransferase 2, mitochondrial", "disease": [], "biological_process": [ { "name": "glycerophospholipid metabolic process", "id": "GO:0006650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006650", "evidence": [ { "database": "UniProtKB", "id": "Q14DK4", "url": "https://www.uniprot.org/uniprotkb/Q14DK4" } ], "pmid": "" }, { "name": "phosphatidic acid biosynthetic process", "id": "GO:0006654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006654", "evidence": [ { "database": "UniProtKB", "id": "Q14DK4", "url": "https://www.uniprot.org/uniprotkb/Q14DK4" } ], "pmid": "" }, { "name": "triglyceride biosynthetic process", "id": "GO:0019432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019432", "evidence": [ { "database": "UniProtKB", "id": "Q14DK4", "url": "https://www.uniprot.org/uniprotkb/Q14DK4" } ], "pmid": "" }, { "name": "glycerol-3-phosphate metabolic process", "id": "GO:0006072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006072", "evidence": [ { "database": "UniProtKB", "id": "Q14DK4", "url": "https://www.uniprot.org/uniprotkb/Q14DK4" } ], "pmid": "" }, { "name": "piRNA processing", "id": "GO:0034587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034587", "evidence": [ { "database": "UniProtKB", "id": "Q14DK4", "url": "https://www.uniprot.org/uniprotkb/Q14DK4" } ], "pmid": "" }, { "name": "CDP-diacylglycerol biosynthetic process", "id": "GO:0016024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016024", "evidence": [ { "database": "UniProtKB", "id": "Q14DK4", "url": "https://www.uniprot.org/uniprotkb/Q14DK4" } ], "pmid": "" } ], "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": "Q14DK4", "url": "https://www.uniprot.org/uniprotkb/Q14DK4" } ], "pmid": "" }, { "name": "glycerol-3-phosphate O-acyltransferase activity", "id": "GO:0004366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004366", "evidence": [ { "database": "UniProtKB", "id": "Q14DK4", "url": "https://www.uniprot.org/uniprotkb/Q14DK4" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q14DK4", "url": "https://www.uniprot.org/uniprotkb/Q14DK4" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q14DK4", "url": "https://www.uniprot.org/uniprotkb/Q14DK4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q14DK4-1", "start_pos": "662", "end_pos": "662", "site_lbl": "Ser662", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q14DK4", "url": "https://www.uniprot.org/uniprotkb/Q14DK4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q14DK4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14DK4" } ] } ] }, { "uniprot_canonical_ac": "Q14DK4-1", "start_pos": "666", "end_pos": "666", "site_lbl": "Thr666", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q14DK4", "url": "https://www.uniprot.org/uniprotkb/Q14DK4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q14DK4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14DK4" } ] } ] }, { "uniprot_canonical_ac": "Q14DK4-1", "start_pos": "668", "end_pos": "668", "site_lbl": "Ser668", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q14DK4", "url": "https://www.uniprot.org/uniprotkb/Q14DK4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q14DK4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14DK4" } ] } ] }, { "uniprot_canonical_ac": "Q14DK4-1", "start_pos": "670", "end_pos": "670", "site_lbl": "Ser670", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q14DK4", "url": "https://www.uniprot.org/uniprotkb/Q14DK4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q14DK4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14DK4" } ] } ] }, { "uniprot_canonical_ac": "Q14DK4-1", "start_pos": "205", "end_pos": "205", "site_lbl": "His205", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "G", "comment": "Does not affect ability to promote piRNA biosynthesis.", "evidence": [ { "database": "UniProtKB", "id": "Q14DK4", "url": "https://www.uniprot.org/uniprotkb/Q14DK4" }, { "database": "PubMed", "id": "23611983", "url": "https://glygen.org/publication/PubMed/23611983" } ] } ] }, { "uniprot_canonical_ac": "Q14DK4-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Asp210", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Does not affect ability to promote piRNA biosynthesis.", "evidence": [ { "database": "UniProtKB", "id": "Q14DK4", "url": "https://www.uniprot.org/uniprotkb/Q14DK4" }, { "database": "PubMed", "id": "23611983", "url": "https://glygen.org/publication/PubMed/23611983" } ] } ] } ], "record_id": "Q14DK4-1" }, { "uniprot_canonical_ac": "Q99LP6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99LP6", "url": "https://www.uniprot.org/uniprotkb/Q99LP6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 217, "chemical_mass": 24307.0, "gene_names": "Grpel1;Grpel1;mt-GrpE#1;mt-Grpel1", "protein_name": "GrpE protein homolog 1, mitochondrial", "disease": [ { "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": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99LP6", "url": "https://www.uniprot.org/uniprotkb/Q99LP6" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99LP6", "url": "https://www.uniprot.org/uniprotkb/Q99LP6" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q99LP6", "url": "https://www.uniprot.org/uniprotkb/Q99LP6" } ], "pmid": "" }, { "name": "PAM complex, Tim23 associated import motor", "id": "GO:0001405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001405", "evidence": [ { "database": "UniProtKB", "id": "Q99LP6", "url": "https://www.uniprot.org/uniprotkb/Q99LP6" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q99LP6", "url": "https://www.uniprot.org/uniprotkb/Q99LP6" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q99LP6", "url": "https://www.uniprot.org/uniprotkb/Q99LP6" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "Q99LP6", "url": "https://www.uniprot.org/uniprotkb/Q99LP6" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q99LP6", "url": "https://www.uniprot.org/uniprotkb/Q99LP6" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "Q99LP6", "url": "https://www.uniprot.org/uniprotkb/Q99LP6" } ], "pmid": "" }, { "name": "ATPase activator activity", "id": "GO:0001671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001671", "evidence": [ { "database": "UniProtKB", "id": "Q99LP6", "url": "https://www.uniprot.org/uniprotkb/Q99LP6" } ], "pmid": "" }, { "name": "adenyl-nucleotide exchange factor activity", "id": "GO:0000774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000774", "evidence": [ { "database": "UniProtKB", "id": "Q99LP6", "url": "https://www.uniprot.org/uniprotkb/Q99LP6" } ], "pmid": "" } ], "biological_process": [ { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q99LP6", "url": "https://www.uniprot.org/uniprotkb/Q99LP6" } ], "pmid": "" }, { "name": "protein import into mitochondrial matrix", "id": "GO:0030150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030150", "evidence": [ { "database": "UniProtKB", "id": "Q99LP6", "url": "https://www.uniprot.org/uniprotkb/Q99LP6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q99LP6-1" }, { "uniprot_canonical_ac": "Q91WA9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 646, "chemical_mass": 72098.0, "gene_names": "Abcg4;6430517O04Rik;Abcg4;White2", "protein_name": "ATP-binding cassette subfamily G member 4", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" }, { "name": "ABC-type sterol transporter activity", "id": "GO:0034041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034041", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" } ], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "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": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "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": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" }, { "name": "sterol transport", "id": "GO:0015918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015918", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" }, { "name": "cellular response to high density lipoprotein particle stimulus", "id": "GO:0071403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071403", "evidence": [ { "database": "UniProtKB", "id": "Q91WA9", "url": "https://www.uniprot.org/uniprotkb/Q91WA9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q91WA9-1" }, { "uniprot_canonical_ac": "A0A087WRF5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A087WRF5", "url": "https://www.uniprot.org/uniprotkb/A0A087WRF5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 222, "chemical_mass": 25788.0, "gene_names": "Gm20792;Gm21739;Gm20792;Gm20837;Gm20838;Gm21094;Gm21256;Gm21739;Gm21861;Gm28891;Gm57478", "protein_name": "", "disease": [ { "disease_id": "DOID:0070176", "name": "spermatogenic failure 4", "description": "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23.", "url": "https://disease-ontology.org/term/DOID:0070176", "evidence": [ { "id": "0070176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070176" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A087WRF5", "url": "https://www.uniprot.org/uniprotkb/A0A087WRF5" } ], "pmid": "" }, { "name": "synaptonemal complex", "id": "GO:0000795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000795", "evidence": [ { "database": "UniProtKB", "id": "A0A087WRF5", "url": "https://www.uniprot.org/uniprotkb/A0A087WRF5" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "A0A087WRF5", "url": "https://www.uniprot.org/uniprotkb/A0A087WRF5" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "A0A087WRF5", "url": "https://www.uniprot.org/uniprotkb/A0A087WRF5" } ], "pmid": "" }, { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "A0A087WRF5", "url": "https://www.uniprot.org/uniprotkb/A0A087WRF5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A087WRF5-1" }, { "uniprot_canonical_ac": "F6QJK4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "F6QJK4", "url": "https://www.uniprot.org/uniprotkb/F6QJK4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 154, "chemical_mass": 17723.0, "gene_names": "4930444P10Rik;4930444P10Rik", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F6QJK4-1" }, { "uniprot_canonical_ac": "G3X9I7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "G3X9I7", "url": "https://www.uniprot.org/uniprotkb/G3X9I7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 835, "chemical_mass": 93900.0, "gene_names": "Zc3h12b;A130028J20Rik;CXorf32;Gm373;Zc3h12b", "protein_name": "", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "G3X9I7", "url": "https://www.uniprot.org/uniprotkb/G3X9I7" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "G3X9I7", "url": "https://www.uniprot.org/uniprotkb/G3X9I7" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "G3X9I7", "url": "https://www.uniprot.org/uniprotkb/G3X9I7" } ], "pmid": "" }, { "name": "RNA endonuclease activity", "id": "GO:0004521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004521", "evidence": [ { "database": "UniProtKB", "id": "G3X9I7", "url": "https://www.uniprot.org/uniprotkb/G3X9I7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "G3X9I7", "url": "https://www.uniprot.org/uniprotkb/G3X9I7" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "G3X9I7", "url": "https://www.uniprot.org/uniprotkb/G3X9I7" } ], "pmid": "" } ], "biological_process": [ { "name": "3'-UTR-mediated mRNA destabilization", "id": "GO:0061158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061158", "evidence": [ { "database": "UniProtKB", "id": "G3X9I7", "url": "https://www.uniprot.org/uniprotkb/G3X9I7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3X9I7-1" }, { "uniprot_canonical_ac": "E9PW05-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PW05", "url": "https://www.uniprot.org/uniprotkb/E9PW05" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 585, "chemical_mass": 68369.0, "gene_names": "Zfp54;2810034D10Rik;KRAB10;Zfp-54;Zfp54;Zfp76;mszf83", "protein_name": "Zinc finger protein 54", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9PW05", "url": "https://www.uniprot.org/uniprotkb/E9PW05" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "E9PW05", "url": "https://www.uniprot.org/uniprotkb/E9PW05" } ], "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": "E9PW05", "url": "https://www.uniprot.org/uniprotkb/E9PW05" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "E9PW05", "url": "https://www.uniprot.org/uniprotkb/E9PW05" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E9PW05", "url": "https://www.uniprot.org/uniprotkb/E9PW05" } ], "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": "E9PW05", "url": "https://www.uniprot.org/uniprotkb/E9PW05" } ], "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": "E9PW05", "url": "https://www.uniprot.org/uniprotkb/E9PW05" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "E9PW05", "url": "https://www.uniprot.org/uniprotkb/E9PW05" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PW05-1" }, { "uniprot_canonical_ac": "Q7TRN9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TRN9", "url": "https://www.uniprot.org/uniprotkb/Q7TRN9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 313, "chemical_mass": 35405.0, "gene_names": "Or56a5;Olfr683", "protein_name": "", "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": "Q7TRN9", "url": "https://www.uniprot.org/uniprotkb/Q7TRN9" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q7TRN9", "url": "https://www.uniprot.org/uniprotkb/Q7TRN9" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TRN9", "url": "https://www.uniprot.org/uniprotkb/Q7TRN9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7TRN9", "url": "https://www.uniprot.org/uniprotkb/Q7TRN9" } ], "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": "Q7TRN9", "url": "https://www.uniprot.org/uniprotkb/Q7TRN9" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q7TRN9", "url": "https://www.uniprot.org/uniprotkb/Q7TRN9" } ], "pmid": "" }, { "name": "cellular response to lipid", "id": "GO:0071396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071396", "evidence": [ { "database": "UniProtKB", "id": "Q7TRN9", "url": "https://www.uniprot.org/uniprotkb/Q7TRN9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TRN9-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Asn183", "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": "NCICTNMSVSK", "relation": "attached", "comment": "reported site N189 is on non-canonical isoform Q8VGV1-1 which maps to canonical isoform site Q7TRN9-1:183", "icn3d_view": {}, "start_pos": 183, "start_aa": "Asn", "end_pos": 183, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn183", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q7TRN9-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Ser241", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (STC->NTC).", "chr_id": "7", "chr_pos": "104792777", "evidence": [ { "id": "rs252150830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252150830" } ] } ] }, { "uniprot_canonical_ac": "Q7TRN9-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Thr7", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TSS->NSS).", "chr_id": "7", "chr_pos": "104793479", "evidence": [ { "id": "rs231951725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231951725" } ] } ] } ], "record_id": "Q7TRN9-1" }, { "uniprot_canonical_ac": "A0A571BDT7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A571BDT7", "url": "https://www.uniprot.org/uniprotkb/A0A571BDT7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 373, "chemical_mass": 43763.0, "gene_names": "Gm21411", "protein_name": "", "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": "A0A571BDT7", "url": "https://www.uniprot.org/uniprotkb/A0A571BDT7" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A0A571BDT7", "url": "https://www.uniprot.org/uniprotkb/A0A571BDT7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A571BDT7", "url": "https://www.uniprot.org/uniprotkb/A0A571BDT7" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A571BDT7", "url": "https://www.uniprot.org/uniprotkb/A0A571BDT7" } ], "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": "A0A571BDT7", "url": "https://www.uniprot.org/uniprotkb/A0A571BDT7" } ], "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": "A0A571BDT7", "url": "https://www.uniprot.org/uniprotkb/A0A571BDT7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A571BDT7-1" }, { "uniprot_canonical_ac": "Q8CHQ0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 385, "chemical_mass": 43777.0, "gene_names": "Fbxo4;1700096C12Rik;Fbx4;Fbxo4", "protein_name": "F-box only protein 4", "disease": [], "biological_process": [ { "name": "regulation of DNA damage checkpoint", "id": "GO:2000001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000001", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "cytoplasmic translational initiation", "id": "GO:0002183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002183", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "cellular homeostasis", "id": "GO:0019725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019725", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "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": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "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": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "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": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "cellular response to ionizing radiation", "id": "GO:0071479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "common myeloid progenitor cell proliferation", "id": "GO:0035726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035726", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "positive regulation of protein polyubiquitination", "id": "GO:1902916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902916", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "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": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "SCF ubiquitin ligase complex", "id": "GO:0019005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019005", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "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": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CHQ0-1", "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": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "Q8CHQ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CHQ0" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ] }, { "uniprot_canonical_ac": "Q8CHQ0-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Thr90", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 90, "start_aa": "Thr", "end_pos": 90, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr90", "evidence": [ { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "Q8CHQ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CHQ0" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ] }, { "uniprot_canonical_ac": "Q8CHQ0-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" }, { "database": "PubMed", "id": "18598945", "url": "https://glygen.org/publication/PubMed/18598945" }, { "database": "iPTMnet", "id": "Q8CHQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CHQ0" } ] } ] }, { "uniprot_canonical_ac": "Q8CHQ0-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Ser46", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CHQ0", "url": "https://www.uniprot.org/uniprotkb/Q8CHQ0" } ] } ] } ], "record_id": "Q8CHQ0-1" }, { "uniprot_canonical_ac": "P11688-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1053, "chemical_mass": 115043.0, "gene_names": "Itga5;Cd49e;Fnra;Itga5;VLA5", "protein_name": "Integrin alpha-5", "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": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "integrin complex", "id": "GO:0008305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008305", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "integrin alpha5-beta1 complex", "id": "GO:0034674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034674", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of sprouting angiogenesis", "id": "GO:1903672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903672", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "cell-substrate junction assembly", "id": "GO:0007044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007044", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "CD40 signaling pathway", "id": "GO:0023035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023035", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "cell adhesion mediated by integrin", "id": "GO:0033627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033627", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "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": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "leukocyte cell-cell adhesion", "id": "GO:0007159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007159", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "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": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "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": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "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": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "regulation of angiogenesis", "id": "GO:0045765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045765", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "cell-substrate adhesion", "id": "GO:0031589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031589", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "negative regulation of anoikis", "id": "GO:2000811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000811", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "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": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "heterotypic cell-cell adhesion", "id": "GO:0034113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034113", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "endodermal cell differentiation", "id": "GO:0035987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035987", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" } ], "molecular_function": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "epidermal growth factor receptor binding", "id": "GO:0005154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005154", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P11688-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Asn185", "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": "TEKDPQNDPVGTCYLSTENFTR", "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": "P11688", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11688#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "P11688-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Asn300", "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": 300, "start_aa": "Asn", "end_pos": 300, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn300", "evidence": [ { "id": "P11688", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11688#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "P11688-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Asn310", "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": 310, "start_aa": "Asn", "end_pos": 310, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn310", "evidence": [ { "id": "P11688", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11688#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->KGS).", "chr_id": "15", "chr_pos": "103262737", "evidence": [ { "id": "rs3389401557", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389401557" } ] } ] }, { "uniprot_canonical_ac": "P11688-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Asn319", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 319, "start_aa": "Asn", "end_pos": 319, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn319", "evidence": [ { "id": "P11688", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11688#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P11688-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Thr381", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 381, "start_aa": "Thr", "end_pos": 381, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr381", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P11688-1", "start_pos": "527", "end_pos": "527", "site_lbl": "Asn527", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 527, "start_aa": "Asn", "end_pos": 527, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn527", "evidence": [ { "id": "P11688", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11688#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P11688-1", "start_pos": "533", "end_pos": "533", "site_lbl": "Asn533", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 533, "start_aa": "Asn", "end_pos": 533, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn533", "evidence": [ { "id": "P11688", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11688#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P11688-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Asn596", "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": "IYLRNESEFR", "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": "P11688", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11688#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": "P11688-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Asn612", "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": "DKLSPIHIALNFSLDPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 612, "start_aa": "Asn", "end_pos": 612, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn612", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 612, "start_aa": "Asn", "end_pos": 612, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn612", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2398", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2398" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 612, "start_aa": "Asn", "end_pos": 612, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn612", "evidence": [ { "id": "P11688", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11688#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": "P11688-1", "start_pos": "678", "end_pos": "678", "site_lbl": "Asn678", "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": "NALNLTFHAQNLGEGGAYEAELR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 678, "start_aa": "Asn", "end_pos": 678, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn678", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 678, "start_aa": "Asn", "end_pos": 678, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn678", "evidence": [ { "id": "P11688", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11688#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": "P11688-1", "start_pos": "715", "end_pos": "715", "site_lbl": "Asn715", "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": 715, "start_aa": "Asn", "end_pos": 715, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn715", "evidence": [ { "id": "P11688", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11688#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "P11688-1", "start_pos": "727", "end_pos": "727", "site_lbl": "Asn727", "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": 727, "start_aa": "Asn", "end_pos": 727, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn727", "evidence": [ { "id": "P11688", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11688#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "P11688-1", "start_pos": "776", "end_pos": "776", "site_lbl": "Asn776", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 776, "start_aa": "Asn", "end_pos": 776, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn776", "evidence": [ { "id": "P11688", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11688#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P11688-1", "start_pos": "872", "end_pos": "872", "site_lbl": "Asn872", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 872, "start_aa": "Asn", "end_pos": 872, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn872", "evidence": [ { "id": "P11688", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11688#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P11688-1", "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": "P11688", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11688#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P11688-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Ser130", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P11688", "url": "https://www.uniprot.org/uniprotkb/P11688" } ] } ] } ], "record_id": "P11688-1" }, { "uniprot_canonical_ac": "Q80WJ7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 579, "chemical_mass": 63846.0, "gene_names": "Mtdh;2610103J23Rik;3D3/Lyric;3D3;AEG-1;D8Bwg1112e;Lyric;Mtdh", "protein_name": "Protein LYRIC", "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": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "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": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "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": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "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": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "NF-kappaB binding", "id": "GO:0051059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051059", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "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": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "intercellular canaliculus", "id": "GO:0046581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046581", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Asn177", "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": "SKSDAKAVQNSSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 177, "start_aa": "Asn", "end_pos": 177, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn177", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Asn277", "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": "LNENLTVNGGGWSEK", "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": "Q80WJ7-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Thr96", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 96, "start_aa": "Thr", "end_pos": 96, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr96", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Ser179", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Ser215", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Ser250", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Ser297", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80WJ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80WJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Ser303", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Ser308", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Ser341", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Ser366", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Ser412", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Ser423", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Ser454", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Ser475", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Ser491", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Ser493", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Ser565", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80WJ7", "url": "https://www.uniprot.org/uniprotkb/Q80WJ7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80WJ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80WJ7" } ] } ] }, { "uniprot_canonical_ac": "Q80WJ7-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Thr279", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->NLI).", "chr_id": "15", "chr_pos": "34118053", "evidence": [ { "id": "rs3389355387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389355387" } ] } ] } ], "record_id": "Q80WJ7-1" }, { "uniprot_canonical_ac": "Q810M6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q810M6", "url": "https://www.uniprot.org/uniprotkb/Q810M6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 228, "chemical_mass": 25512.0, "gene_names": "Liat1;1700016K19Rik;Liat1", "protein_name": "Protein LIAT1", "disease": [], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q810M6", "url": "https://www.uniprot.org/uniprotkb/Q810M6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q810M6", "url": "https://www.uniprot.org/uniprotkb/Q810M6" } ], "pmid": "" } ], "biological_process": [ { "name": "protein arginylation", "id": "GO:0016598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016598", "evidence": [ { "database": "UniProtKB", "id": "Q810M6", "url": "https://www.uniprot.org/uniprotkb/Q810M6" } ], "pmid": "" }, { "name": "membraneless organelle assembly", "id": "GO:0140694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140694", "evidence": [ { "database": "UniProtKB", "id": "Q810M6", "url": "https://www.uniprot.org/uniprotkb/Q810M6" } ], "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": "Q810M6", "url": "https://www.uniprot.org/uniprotkb/Q810M6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q810M6-1" }, { "uniprot_canonical_ac": "Q9CWP4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CWP4", "url": "https://www.uniprot.org/uniprotkb/Q9CWP4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 154, "chemical_mass": 17134.0, "gene_names": "Ly6k;2410015A16Rik;3110035B01Rik;Ly6k;mLy-6K", "protein_name": "Lymphocyte antigen 6K", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9CWP4", "url": "https://www.uniprot.org/uniprotkb/Q9CWP4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CWP4", "url": "https://www.uniprot.org/uniprotkb/Q9CWP4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9CWP4", "url": "https://www.uniprot.org/uniprotkb/Q9CWP4" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9CWP4", "url": "https://www.uniprot.org/uniprotkb/Q9CWP4" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q9CWP4", "url": "https://www.uniprot.org/uniprotkb/Q9CWP4" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q9CWP4", "url": "https://www.uniprot.org/uniprotkb/Q9CWP4" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "Q9CWP4", "url": "https://www.uniprot.org/uniprotkb/Q9CWP4" } ], "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": "Q9CWP4", "url": "https://www.uniprot.org/uniprotkb/Q9CWP4" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q9CWP4", "url": "https://www.uniprot.org/uniprotkb/Q9CWP4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CWP4-1" }, { "uniprot_canonical_ac": "Q99MR8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99MR8", "url": "https://www.uniprot.org/uniprotkb/Q99MR8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 717, "chemical_mass": 79344.0, "gene_names": "Mccc1;1810045E08Rik;2310058B18Rik;MCCalpha;Mcca;Mccc1", "protein_name": "Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial", "disease": [ { "disease_id": "DOID:0080579", "name": "3-methylcrotonyl-CoA carboxylase 1 deficiency", "description": "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27.", "url": "https://disease-ontology.org/term/DOID:0080579", "evidence": [ { "id": "0080579", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080579" } ], "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": "Q99MR8", "url": "https://www.uniprot.org/uniprotkb/Q99MR8" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q99MR8", "url": "https://www.uniprot.org/uniprotkb/Q99MR8" } ], "pmid": "" }, { "name": "methylcrotonoyl-CoA carboxylase activity", "id": "GO:0004485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004485", "evidence": [ { "database": "UniProtKB", "id": "Q99MR8", "url": "https://www.uniprot.org/uniprotkb/Q99MR8" } ], "pmid": "" }, { "name": "ligase activity", "id": "GO:0016874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016874", "evidence": [ { "database": "UniProtKB", "id": "Q99MR8", "url": "https://www.uniprot.org/uniprotkb/Q99MR8" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99MR8", "url": "https://www.uniprot.org/uniprotkb/Q99MR8" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q99MR8", "url": "https://www.uniprot.org/uniprotkb/Q99MR8" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q99MR8", "url": "https://www.uniprot.org/uniprotkb/Q99MR8" } ], "pmid": "" }, { "name": "methylcrotonoyl-CoA carboxylase complex", "id": "GO:1905202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905202", "evidence": [ { "database": "UniProtKB", "id": "Q99MR8", "url": "https://www.uniprot.org/uniprotkb/Q99MR8" } ], "pmid": "" } ], "biological_process": [ { "name": "L-leucine catabolic process", "id": "GO:0006552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006552", "evidence": [ { "database": "UniProtKB", "id": "Q99MR8", "url": "https://www.uniprot.org/uniprotkb/Q99MR8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99MR8-1", "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": "LNISYTRNMTLRSGK", "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" } ] } ] } ], "record_id": "Q99MR8-1" }, { "uniprot_canonical_ac": "Q9D925-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D925", "url": "https://www.uniprot.org/uniprotkb/Q9D925" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 145, "chemical_mass": 16198.0, "gene_names": "Lyzl4;1810009N24Rik;Lyc4;Lyza;Lyzl4", "protein_name": "Lysozyme-like protein 4", "disease": [ { "disease_id": "DOID:934", "name": "viral infectious disease", "description": "A disease by infectious agent that results in infection, has_material_basis_in Viruses.", "url": "https://disease-ontology.org/term/DOID:934", "evidence": [ { "id": "934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:934" } ], "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": "Q9D925", "url": "https://www.uniprot.org/uniprotkb/Q9D925" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q9D925", "url": "https://www.uniprot.org/uniprotkb/Q9D925" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q9D925", "url": "https://www.uniprot.org/uniprotkb/Q9D925" } ], "pmid": "" } ], "biological_process": [ { "name": "fusion of sperm to egg plasma membrane involved in single fertilization", "id": "GO:0007342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007342", "evidence": [ { "database": "UniProtKB", "id": "Q9D925", "url": "https://www.uniprot.org/uniprotkb/Q9D925" } ], "pmid": "" }, { "name": "fertilization", "id": "GO:0009566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009566", "evidence": [ { "database": "UniProtKB", "id": "Q9D925", "url": "https://www.uniprot.org/uniprotkb/Q9D925" } ], "pmid": "" } ], "molecular_function": [ { "name": "lysozyme activity", "id": "GO:0003796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003796", "evidence": [ { "database": "UniProtKB", "id": "Q9D925", "url": "https://www.uniprot.org/uniprotkb/Q9D925" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D925-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Lys112", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "121412080", "evidence": [ { "id": "rs6405334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6405334" } ] } ] }, { "uniprot_canonical_ac": "Q9D925-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Val114", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "121412075", "evidence": [ { "id": "rs3389051918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389051918" } ] } ] }, { "uniprot_canonical_ac": "Q9D925-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Ala122", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "121412051", "evidence": [ { "id": "rs3389086372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389086372" } ] } ] }, { "uniprot_canonical_ac": "Q9D925-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Ile125", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "121407156", "evidence": [ { "id": "rs212664145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212664145" } ] } ] }, { "uniprot_canonical_ac": "Q9D925-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Ser133", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "121407132", "evidence": [ { "id": "rs3400429492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400429492" } ] } ] }, { "uniprot_canonical_ac": "Q9D925-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Arg138", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "121407116", "evidence": [ { "id": "rs3400557876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400557876" } ] }, { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "121407117", "evidence": [ { "id": "rs3389072227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389072227" } ] } ] }, { "uniprot_canonical_ac": "Q9D925-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Val62", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "121413242", "evidence": [ { "id": "rs3389089008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389089008" } ] } ] }, { "uniprot_canonical_ac": "Q9D925-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Ile78", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "121413195", "evidence": [ { "id": "rs3389079061", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389079061" } ] } ] }, { "uniprot_canonical_ac": "Q9D925-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Gly85", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "121413173", "evidence": [ { "id": "rs227632420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227632420" } ] } ] }, { "uniprot_canonical_ac": "Q9D925-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Lys88", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "121413165", "evidence": [ { "id": "rs3389088942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389088942" } ] } ] }, { "uniprot_canonical_ac": "Q9D925-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Ala97", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "121412125", "evidence": [ { "id": "rs3389084055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389084055" } ] } ] } ], "record_id": "Q9D925-1" }, { "uniprot_canonical_ac": "P53349-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1493, "chemical_mass": 161289.0, "gene_names": "Map3k1;Mekk1;Mekk", "protein_name": "Mitogen-activated protein kinase kinase kinase 1", "disease": [ { "disease_id": "DOID:0080763", "name": "diffuse gastric cancer", "description": "A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining.", "url": "https://disease-ontology.org/term/DOID:0080763", "evidence": [ { "id": "0080763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080763" } ], "weight": 0.0 }, { "disease_id": "DOID:0111769", "name": "46,XY sex reversal 6", "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 heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2.", "url": "https://disease-ontology.org/term/DOID:0111769", "evidence": [ { "id": "0111769", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111769" } ], "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: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:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1993", "evidence": [ { "id": "1993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ], "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: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": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "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": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "mitogen-activated protein kinase binding", "id": "GO:0051019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051019", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "MAP kinase kinase kinase activity", "id": "GO:0004709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004709", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "sphingolipid binding", "id": "GO:0046625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046625", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "JUN kinase binding", "id": "GO:0008432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008432", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "JUN kinase kinase kinase activity", "id": "GO:0004706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004706", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "MAP kinase kinase activity", "id": "GO:0004708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004708", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "filamentous actin", "id": "GO:0031941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031941", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "tight junction", "id": "GO:0070160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070160", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" } ], "biological_process": [ { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "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": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "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": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "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": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "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": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "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": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "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": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "epithelial cell morphogenesis", "id": "GO:0003382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003382", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "apoptotic mitochondrial changes", "id": "GO:0008637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008637", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "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": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "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": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "negative regulation of actin filament bundle assembly", "id": "GO:0032232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032232", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "positive regulation of viral transcription", "id": "GO:0050434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050434", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "morphogenesis of an epithelial sheet", "id": "GO:0002011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002011", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" }, { "name": "regulation of actin filament organization", "id": "GO:0110053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110053", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P53349-1", "start_pos": "1110", "end_pos": "1110", "site_lbl": "Asn1110", "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": "LDVNTELNSSIEDLLEASMPSSDTTVTFK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1110, "start_aa": "Asn", "end_pos": 1110, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1110", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "886", "end_pos": "886", "site_lbl": "Thr886", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 886, "start_aa": "Thr", "end_pos": 886, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr886", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "1024", "end_pos": "1024", "site_lbl": "Ser1024", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "1381", "end_pos": "1381", "site_lbl": "Thr1381", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P53349-1", "kinase_gene_name": "Map3k1", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" }, { "database": "iPTMnet", "id": "P53349", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P53349" }, { "database": "PubMed", "id": "9078260", "url": "https://glygen.org/publication/PubMed/9078260" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Fails to activate MAP2K1, MAP2K4, MAP2K7, CHUK and IKBKB.", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" }, { "database": "PubMed", "id": "9078260", "url": "https://glygen.org/publication/PubMed/9078260" }, { "database": "PubMed", "id": "14500727", "url": "https://glygen.org/publication/PubMed/14500727" } ] }, { "sequence_org": "T", "sequence_mut": "E", "comment": "Loss of kinase activity and autophosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" }, { "database": "PubMed", "id": "9078260", "url": "https://glygen.org/publication/PubMed/9078260" }, { "database": "PubMed", "id": "14500727", "url": "https://glygen.org/publication/PubMed/14500727" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Reduced kinase activity and autophosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" }, { "database": "PubMed", "id": "9078260", "url": "https://glygen.org/publication/PubMed/9078260" }, { "database": "PubMed", "id": "14500727", "url": "https://glygen.org/publication/PubMed/14500727" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "1393", "end_pos": "1393", "site_lbl": "Thr1393", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P53349-1", "kinase_gene_name": "Map3k1", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" }, { "database": "iPTMnet", "id": "P53349", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P53349" }, { "database": "PubMed", "id": "9078260", "url": "https://glygen.org/publication/PubMed/9078260" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Loss of kinase activity and autophosphorylation. Fails to activate MAP2K1, MAP2K4, MAP2K7, CHUK and IKBKB.", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" }, { "database": "PubMed", "id": "9078260", "url": "https://glygen.org/publication/PubMed/9078260" }, { "database": "PubMed", "id": "14500727", "url": "https://glygen.org/publication/PubMed/14500727" } ] }, { "sequence_org": "T", "sequence_mut": "E", "comment": "Loss of kinase activity and autophosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" }, { "database": "PubMed", "id": "9078260", "url": "https://glygen.org/publication/PubMed/9078260" }, { "database": "PubMed", "id": "14500727", "url": "https://glygen.org/publication/PubMed/14500727" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Reduced kinase activity and autophosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" }, { "database": "PubMed", "id": "9078260", "url": "https://glygen.org/publication/PubMed/9078260" }, { "database": "PubMed", "id": "14500727", "url": "https://glygen.org/publication/PubMed/14500727" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Ser142", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" }, { "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": "P53349", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P53349" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ser21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Ser270", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Thr280", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Ser287", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P53349", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P53349" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Ser292", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Ser295", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Ser502", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Ser526", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "915", "end_pos": "915", "site_lbl": "Ser915", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "999", "end_pos": "999", "site_lbl": "Ser999", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "772", "end_pos": "772", "site_lbl": "Ile772", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IVS->NVS).", "chr_id": "13", "chr_pos": "111893189", "evidence": [ { "id": "rs3389300228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389300228" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "844", "end_pos": "844", "site_lbl": "His844", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HFT->NFT).", "chr_id": "13", "chr_pos": "111892724", "evidence": [ { "id": "rs3389276542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276542" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "1394", "end_pos": "1394", "site_lbl": "Ile1394", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "Loss of NF-kappa-B transcription factor activity and reduced ability to activate MAP2K1, MAP2K4, MAP2K7. No effect on AP-1 activity or activation of CHUK and IKBKB. Loss of binding to IKBKB.", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" }, { "database": "PubMed", "id": "14500727", "url": "https://glygen.org/publication/PubMed/14500727" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "1396", "end_pos": "1396", "site_lbl": "Phe1396", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Loss of AP-1 and NF-kappa-B transcription factor activity. Reduced ability to activate MAP2K1, MAP2K4, MAP2K7, CHUK and IKBKB.", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" }, { "database": "PubMed", "id": "14500727", "url": "https://glygen.org/publication/PubMed/14500727" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "1397", "end_pos": "1397", "site_lbl": "Met1397", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "Loss of AP-1 and NF-kappa-B transcription factor activity. Reduced ability to activate MAP2K1, MAP2K4, MAP2K7, CHUK and IKBKB.", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" }, { "database": "PubMed", "id": "14500727", "url": "https://glygen.org/publication/PubMed/14500727" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "1401", "end_pos": "1401", "site_lbl": "Val1401", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Loss of AP-1 and NF-kappa-B transcription factor activity. Reduced ability to activate MAP2K1, MAP2K4, MAP2K7, CHUK and IKBKB.", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" }, { "database": "PubMed", "id": "14500727", "url": "https://glygen.org/publication/PubMed/14500727" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "1402", "end_pos": "1402", "site_lbl": "Leu1402", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Loss of AP-1 transcription factor activity and reduced ability to activate CHUK and IKBKB. No effect on NF-kappa-B activity or activation of MAP2K1, MAP2K4, MAP2K7. Loss of binding to MAP2K4.", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" }, { "database": "PubMed", "id": "14500727", "url": "https://glygen.org/publication/PubMed/14500727" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "1403", "end_pos": "1403", "site_lbl": "Arg1403", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of AP-1 transcription factor activity, no effect on NF-kappa-B activity.", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" }, { "database": "PubMed", "id": "14500727", "url": "https://glygen.org/publication/PubMed/14500727" } ] } ] }, { "uniprot_canonical_ac": "P53349-1", "start_pos": "1404", "end_pos": "1404", "site_lbl": "Gly1404", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Loss of AP-1 and NF-kappa-B transcription factor activity.", "evidence": [ { "database": "UniProtKB", "id": "P53349", "url": "https://www.uniprot.org/uniprotkb/P53349" }, { "database": "PubMed", "id": "14500727", "url": "https://glygen.org/publication/PubMed/14500727" } ] } ] } ], "record_id": "P53349-1" }, { "uniprot_canonical_ac": "Q99JP0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99JP0", "url": "https://www.uniprot.org/uniprotkb/Q99JP0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 894, "chemical_mass": 101119.0, "gene_names": "Map4k3;4833416M01Rik;4833416M07Rik;9530052P13Rik;Glk;MAPKKKK3;MEKKK 3;MEKKK3;Map4k3;RAB8IPL1", "protein_name": "Mitogen-activated protein kinase kinase kinase kinase 3", "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: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": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q99JP0", "url": "https://www.uniprot.org/uniprotkb/Q99JP0" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q99JP0", "url": "https://www.uniprot.org/uniprotkb/Q99JP0" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q99JP0", "url": "https://www.uniprot.org/uniprotkb/Q99JP0" } ], "pmid": "" }, { "name": "MAP kinase kinase kinase kinase activity", "id": "GO:0008349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008349", "evidence": [ { "database": "UniProtKB", "id": "Q99JP0", "url": "https://www.uniprot.org/uniprotkb/Q99JP0" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q99JP0", "url": "https://www.uniprot.org/uniprotkb/Q99JP0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99JP0", "url": "https://www.uniprot.org/uniprotkb/Q99JP0" } ], "pmid": "" } ], "biological_process": [ { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q99JP0", "url": "https://www.uniprot.org/uniprotkb/Q99JP0" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "Q99JP0", "url": "https://www.uniprot.org/uniprotkb/Q99JP0" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q99JP0", "url": "https://www.uniprot.org/uniprotkb/Q99JP0" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "Q99JP0", "url": "https://www.uniprot.org/uniprotkb/Q99JP0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99JP0-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Ser329", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JP0", "url": "https://www.uniprot.org/uniprotkb/Q99JP0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99JP0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99JP0" } ] } ] }, { "uniprot_canonical_ac": "Q99JP0-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Ser398", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JP0", "url": "https://www.uniprot.org/uniprotkb/Q99JP0" } ] } ] } ], "record_id": "Q99JP0-1" }, { "uniprot_canonical_ac": "Q9CXI5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CXI5", "url": "https://www.uniprot.org/uniprotkb/Q9CXI5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 179, "chemical_mass": 20388.0, "gene_names": "Manf;3230402M22Rik;Armet;D18Mgi17;Manf", "protein_name": "Mesencephalic astrocyte-derived neurotrophic factor", "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:104", "name": "bacterial infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.", "url": "https://disease-ontology.org/term/DOID:104", "evidence": [ { "id": "104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:104" } ], "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: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: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: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 } ], "biological_process": [ { "name": "vasoconstriction of artery involved in ischemic response to lowering of systemic arterial blood pressure", "id": "GO:0002014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002014", "evidence": [ { "database": "UniProtKB", "id": "Q9CXI5", "url": "https://www.uniprot.org/uniprotkb/Q9CXI5" } ], "pmid": "" }, { "name": "ATF6-mediated unfolded protein response", "id": "GO:0036500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036500", "evidence": [ { "database": "UniProtKB", "id": "Q9CXI5", "url": "https://www.uniprot.org/uniprotkb/Q9CXI5" } ], "pmid": "" }, { "name": "regulation of response to endoplasmic reticulum stress", "id": "GO:1905897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905897", "evidence": [ { "database": "UniProtKB", "id": "Q9CXI5", "url": "https://www.uniprot.org/uniprotkb/Q9CXI5" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9CXI5", "url": "https://www.uniprot.org/uniprotkb/Q9CXI5" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9CXI5", "url": "https://www.uniprot.org/uniprotkb/Q9CXI5" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "Q9CXI5", "url": "https://www.uniprot.org/uniprotkb/Q9CXI5" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9CXI5", "url": "https://www.uniprot.org/uniprotkb/Q9CXI5" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum lumen", "id": "GO:0033018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033018", "evidence": [ { "database": "UniProtKB", "id": "Q9CXI5", "url": "https://www.uniprot.org/uniprotkb/Q9CXI5" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9CXI5", "url": "https://www.uniprot.org/uniprotkb/Q9CXI5" } ], "pmid": "" } ], "molecular_function": [ { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "Q9CXI5", "url": "https://www.uniprot.org/uniprotkb/Q9CXI5" } ], "pmid": "" }, { "name": "sulfatide binding", "id": "GO:0120146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120146", "evidence": [ { "database": "UniProtKB", "id": "Q9CXI5", "url": "https://www.uniprot.org/uniprotkb/Q9CXI5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CXI5-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Tyr73", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CXI5", "url": "https://www.uniprot.org/uniprotkb/Q9CXI5" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q9CXI5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CXI5" } ] } ] }, { "uniprot_canonical_ac": "Q9CXI5-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Arg133", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "E", "comment": "Abolishes inhibition of HSPA5 ATP nucleotide exchange.", "evidence": [ { "database": "UniProtKB", "id": "Q9CXI5", "url": "https://www.uniprot.org/uniprotkb/Q9CXI5" }, { "database": "PubMed", "id": "30710085", "url": "https://glygen.org/publication/PubMed/30710085" } ] } ] }, { "uniprot_canonical_ac": "Q9CXI5-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Glu153", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Abolishes inhibition of HSPA5 ATP nucleotide exchange.", "evidence": [ { "database": "UniProtKB", "id": "Q9CXI5", "url": "https://www.uniprot.org/uniprotkb/Q9CXI5" }, { "database": "PubMed", "id": "30710085", "url": "https://glygen.org/publication/PubMed/30710085" } ] } ] } ], "record_id": "Q9CXI5-1" }, { "uniprot_canonical_ac": "P06801-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 572, "chemical_mass": 63954.0, "gene_names": "Me1;D9Ertd267e;Mdh-1;Me1;Mod-1;Mod1", "protein_name": "NADP-dependent malic enzyme", "disease": [], "biological_process": [ { "name": "NADP+ metabolic process", "id": "GO:0006739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006739", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "pmid": "" }, { "name": "NAD+ metabolic process", "id": "GO:0019674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019674", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "pmid": "" }, { "name": "malate metabolic process", "id": "GO:0006108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006108", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "pmid": "" }, { "name": "regulation of NADP metabolic process", "id": "GO:1902031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902031", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "pmid": "" } ], "molecular_function": [ { "name": "oxaloacetate decarboxylase activity", "id": "GO:0008948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008948", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "pmid": "" }, { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "pmid": "" }, { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "pmid": "" }, { "name": "NAD binding", "id": "GO:0051287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051287", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "pmid": "" }, { "name": "malic enzyme activity", "id": "GO:0004470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004470", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "pmid": "" }, { "name": "malate dehydrogenase (decarboxylating) (NADP+) activity", "id": "GO:0004473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004473", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P06801-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Ser336", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P06801", "url": "https://www.uniprot.org/uniprotkb/P06801" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P06801", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P06801" } ] } ] } ], "record_id": "P06801-1" }, { "uniprot_canonical_ac": "P20917-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 627, "chemical_mass": 69388.0, "gene_names": "Mag;Gma;Mag;siglec-4a", "protein_name": "Myelin-associated glycoprotein", "disease": [ { "disease_id": "DOID:0110820", "name": "hereditary spastic paraplegia 75", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0110820", "evidence": [ { "id": "0110820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110820" } ], "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: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: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:573", "name": "nerve compression syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:573", "evidence": [ { "id": "573", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:573" } ], "weight": 0.0 } ], "biological_process": [ { "name": "central nervous system myelin formation", "id": "GO:0032289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032289", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "central nervous system myelination", "id": "GO:0022010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022010", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "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": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "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": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "transmission of nerve impulse", "id": "GO:0019226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019226", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "axon regeneration", "id": "GO:0031103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031103", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "positive regulation of astrocyte differentiation", "id": "GO:0048711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048711", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "negative regulation of axon extension", "id": "GO:0030517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030517", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "positive regulation of myelination", "id": "GO:0031643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031643", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "sialic acid binding", "id": "GO:0033691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033691", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "ganglioside GT1b binding", "id": "GO:1905576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905576", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "myelin sheath adaxonal region", "id": "GO:0035749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035749", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "Schmidt-Lanterman incisure", "id": "GO:0043220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043220", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "compact myelin", "id": "GO:0043218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043218", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "paranode region of axon", "id": "GO:0033270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033270", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "mesaxon", "id": "GO:0097453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097453", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P20917-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Thr101", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 101, "start_aa": "Thr", "end_pos": 101, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr101", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P20917", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P20917" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Ser105", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 105, "start_aa": "Ser", "end_pos": 105, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser105", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P20917", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P20917" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Asn223", "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=5LFR&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": "P20917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P20917#ptm_processing" }, { "id": "27922006", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27922006" }, { "id": "5LFR", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFR" }, { "id": "5LFR", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFR" }, { "id": "5LFU", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFU" }, { "id": "5LFU", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFU" }, { "id": "5LFV", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFV" }, { "id": "5LFV", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFV" }, { "id": "5LFR|A|223", "database": "", "url": "" }, { "id": "5LFU|A|223", "database": "", "url": "" }, { "id": "5LFV|A|223", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Trp22", "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": 22, "start_aa": "Trp", "end_pos": 22, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp22", "evidence": [ { "id": "P20917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P20917#ptm_processing" }, { "id": "GLY_001255", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001255" }, { "id": "27922006", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27922006" } ] }, { "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=5LFR&bu=0&command=select+.B:22;+center+selection;+zoom+selection" }, "start_pos": 22, "start_aa": "Trp", "end_pos": 22, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp22", "evidence": [ { "id": "P20917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P20917#ptm_processing" }, { "id": "27922006", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27922006" }, { "id": "5LFR", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFR" }, { "id": "5LFR", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFR" }, { "id": "5LFU", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFU" }, { "id": "5LFU", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFU" }, { "id": "5LFV", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFV" }, { "id": "5LFV", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFV" }, { "id": "5LF5", "database": "PDB", "url": "https://www.rcsb.org/structure/5LF5" }, { "id": "5LF5", "database": "PDB", "url": "https://www.rcsb.org/structure/5LF5" }, { "id": "5LFR|B|22", "database": "", "url": "" }, { "id": "5LFR|A|22", "database": "", "url": "" }, { "id": "5LFU|A|22", "database": "", "url": "" }, { "id": "5LFV|B|22", "database": "", "url": "" }, { "id": "5LFV|A|22", "database": "", "url": "" }, { "id": "5LF5|A|22", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=5LFR&bu=0&command=select+.B:246;+center+selection;+zoom+selection" }, "start_pos": 246, "start_aa": "Asn", "end_pos": 246, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn246", "evidence": [ { "id": "P20917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P20917#ptm_processing" }, { "id": "27922006", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27922006" }, { "id": "5LFR", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFR" }, { "id": "5LFR", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFR" }, { "id": "5LFU", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFU" }, { "id": "5LFU", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFU" }, { "id": "5LFV", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFV" }, { "id": "5LFV", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFV" }, { "id": "5LF5", "database": "PDB", "url": "https://www.rcsb.org/structure/5LF5" }, { "id": "5LF5", "database": "PDB", "url": "https://www.rcsb.org/structure/5LF5" }, { "id": "5LFR|B|246", "database": "", "url": "" }, { "id": "5LFR|A|246", "database": "", "url": "" }, { "id": "5LFU|A|246", "database": "", "url": "" }, { "id": "5LFV|B|246", "database": "", "url": "" }, { "id": "5LFV|A|246", "database": "", "url": "" }, { "id": "5LF5|A|246", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Asn315", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "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=5LFR&bu=0&command=select+.B:315;+center+selection;+zoom+selection" }, "start_pos": 315, "start_aa": "Asn", "end_pos": 315, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn315", "evidence": [ { "id": "P20917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P20917#ptm_processing" }, { "id": "27922006", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27922006" }, { "id": "5LFR", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFR" }, { "id": "5LFR", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFR" }, { "id": "5LFU", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFU" }, { "id": "5LFU", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFU" }, { "id": "5LFV", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFV" }, { "id": "5LFV", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFV" }, { "id": "5LF5", "database": "PDB", "url": "https://www.rcsb.org/structure/5LF5" }, { "id": "5LF5", "database": "PDB", "url": "https://www.rcsb.org/structure/5LF5" }, { "id": "5LFR|B|315", "database": "", "url": "" }, { "id": "5LFR|A|315", "database": "", "url": "" }, { "id": "5LFU|A|315", "database": "", "url": "" }, { "id": "5LFV|B|315", "database": "", "url": "" }, { "id": "5LFV|A|315", "database": "", "url": "" }, { "id": "5LF5|A|315", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Asn332", "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": 332, "start_aa": "Asn", "end_pos": 332, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn332", "evidence": [ { "id": "P20917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P20917#ptm_processing" }, { "id": "27922006", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27922006" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Asn406", "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": "ATAFNLSVEFAPIILLESHCAAAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 406, "start_aa": "Asn", "end_pos": 406, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn406", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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=5LF5&bu=0&command=select+.A:406;+center+selection;+zoom+selection" }, "start_pos": 406, "start_aa": "Asn", "end_pos": 406, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn406", "evidence": [ { "id": "P20917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P20917#ptm_processing" }, { "id": "27922006", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27922006" }, { "id": "5LF5", "database": "PDB", "url": "https://www.rcsb.org/structure/5LF5" }, { "id": "5LF5", "database": "PDB", "url": "https://www.rcsb.org/structure/5LF5" }, { "id": "5LF5|A|406", "database": "", "url": "" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "Increases homodimerization.", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" }, { "database": "PubMed", "id": "27922006", "url": "https://glygen.org/publication/PubMed/27922006" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Asn450", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G28465XX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NVTVNETER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 450, "start_aa": "Asn", "end_pos": 450, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn450", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 450, "start_aa": "Asn", "end_pos": 450, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn450", "evidence": [ { "id": "P20917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P20917#ptm_processing" }, { "id": "27922006", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27922006" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Asn454", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G99571YO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NVTVNETER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 454, "start_aa": "Asn", "end_pos": 454, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn454", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 454, "start_aa": "Asn", "end_pos": 454, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn454", "evidence": [ { "id": "P20917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P20917#ptm_processing" }, { "id": "27922006", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27922006" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Asn541", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G31596OQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NVTESSSFSGGDNPHVLYSPEFR", "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" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Asn99", "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": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2519", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2519" } ] }, { "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": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2519", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2519" } ] }, { "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": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2519", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2519" } ] }, { "glytoucan_ac": "G10756ZZ", "type": "N-linked", "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=5LFR&bu=0&command=select+.A:99;+center+selection;+zoom+selection" }, "start_pos": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "5LFR", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFR" }, { "id": "5LFR", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFR" }, { "id": "5LFR|A|99", "database": "", "url": "" } ] }, { "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": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2519", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2519" } ] }, { "glytoucan_ac": "G22573RC", "type": "N-linked", "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=5LFV&bu=0&command=select+.B:99;+center+selection;+zoom+selection" }, "start_pos": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "5LFV", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFV" }, { "id": "5LFV", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFV" }, { "id": "5LFV|B|99", "database": "", "url": "" }, { "id": "5LFV|A|99", "database": "", "url": "" } ] }, { "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=5LFU&bu=0&command=select+.A:99;+center+selection;+zoom+selection" }, "start_pos": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "5LFU", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFU" }, { "id": "5LFU", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFU" }, { "id": "5LFU|A|99", "database": "", "url": "" } ] }, { "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": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2519", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2519" } ] }, { "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": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2519", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2519" } ] }, { "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": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2519", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2519" } ] }, { "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": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2519", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2519" } ] }, { "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": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2446", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2446" }, { "id": "2519", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2519" } ] }, { "glytoucan_ac": "G39471UU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NCTLLLSTLSPELGGK", "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": "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": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2446", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2446" }, { "id": "2519", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2519" } ] }, { "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": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2519", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2519" } ] }, { "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": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2519", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2519" } ] }, { "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": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2519", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2519" } ] }, { "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=5LFR&bu=0&command=select+.B:99;+center+selection;+zoom+selection" }, "start_pos": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "5LFR", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFR" }, { "id": "5LFR", "database": "PDB", "url": "https://www.rcsb.org/structure/5LFR" }, { "id": "5LFR|B|99", "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=5LF5&bu=0&command=select+.A:99;+center+selection;+zoom+selection" }, "start_pos": 99, "start_aa": "Asn", "end_pos": 99, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn99", "evidence": [ { "id": "P20917", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P20917#ptm_processing" }, { "id": "27922006", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27922006" }, { "id": "5LF5", "database": "PDB", "url": "https://www.rcsb.org/structure/5LF5" }, { "id": "5LF5", "database": "PDB", "url": "https://www.rcsb.org/structure/5LF5" }, { "id": "5LF5|A|99", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "545", "end_pos": "545", "site_lbl": "Ser545", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Ser547", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "549", "end_pos": "549", "site_lbl": "Ser549", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "591", "end_pos": "591", "site_lbl": "Ser591", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P20917", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P20917" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30599069", "evidence": [ { "id": "rs227369433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227369433" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Val134", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30610841", "evidence": [ { "id": "rs3507864664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507864664" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Leu135", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30610838", "evidence": [ { "id": "rs3388898818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898818" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Cys165", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30608618", "evidence": [ { "id": "rs3397339331", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397339331" } ] }, { "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30608620", "evidence": [ { "id": "rs3412177956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412177956" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "177", "end_pos": "177", "site_lbl": "His177", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30608584", "evidence": [ { "id": "rs3507866506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507866506" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "21", "end_pos": "21", "site_lbl": "His21", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30611178", "evidence": [ { "id": "rs3388899545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388899545" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Thr224", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30608442", "evidence": [ { "id": "rs3397795215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397795215" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Leu226", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30608436", "evidence": [ { "id": "rs3388899591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388899591" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ala24", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30611170", "evidence": [ { "id": "rs3388873230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388873230" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Arg281", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30607918", "evidence": [ { "id": "rs261533695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261533695" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Lys286", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30607904", "evidence": [ { "id": "rs49440298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49440298" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Val302", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30607856", "evidence": [ { "id": "rs3388893289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388893289" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Ala325", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30606589", "evidence": [ { "id": "rs3388902685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388902685" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Thr330", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30606573", "evidence": [ { "id": "rs3388902663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388902663" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Val336", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30606556", "evidence": [ { "id": "rs3388899573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388899573" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "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, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30606550", "evidence": [ { "id": "rs3507866977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507866977" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Ile414", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30601352", "evidence": [ { "id": "rs3388886813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388886813" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Ser419", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30601337", "evidence": [ { "id": "rs3388873277", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388873277" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "425", "end_pos": "425", "site_lbl": "Arg425", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30601319", "evidence": [ { "id": "rs3388882433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388882433" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "428", "end_pos": "428", "site_lbl": "Val428", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30601311", "evidence": [ { "id": "rs3388882451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388882451" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Gln481", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30601152", "evidence": [ { "id": "rs3388873271", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388873271" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Pro502", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30601088", "evidence": [ { "id": "rs3388896115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388896115" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Gln504", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30601081", "evidence": [ { "id": "rs3388902716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388902716" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "518", "end_pos": "518", "site_lbl": "Gly518", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30600552", "evidence": [ { "id": "rs3388898746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388898746" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Ser546", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30600143", "evidence": [ { "id": "rs47451860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47451860" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "555", "end_pos": "555", "site_lbl": "His555", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30600115", "evidence": [ { "id": "rs3388858429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388858429" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Lys570", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30600071", "evidence": [ { "id": "rs3397330721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397330721" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "571", "end_pos": "571", "site_lbl": "Tyr571", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30600067", "evidence": [ { "id": "rs3397574851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397574851" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "574", "end_pos": "574", "site_lbl": "Glu574", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30599120", "evidence": [ { "id": "rs45996260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45996260" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "607", "end_pos": "607", "site_lbl": "Pro607", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30599021", "evidence": [ { "id": "rs3388897102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388897102" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "625", "end_pos": "625", "site_lbl": "Arg625", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lecitn/i-type/siglec.", "chr_id": "7", "chr_pos": "30598966", "evidence": [ { "id": "rs5528018466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5528018466" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Arg118", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes ganglioside binding.", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" }, { "database": "PubMed", "id": "27922006", "url": "https://glygen.org/publication/PubMed/27922006" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Tyr127", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes ganglioside binding.", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" }, { "database": "PubMed", "id": "27922006", "url": "https://glygen.org/publication/PubMed/27922006" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Thr128", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes ganglioside binding.", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" }, { "database": "PubMed", "id": "27922006", "url": "https://glygen.org/publication/PubMed/27922006" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Trp25", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "Q", "comment": "Abolishes C-linked mannosylation.", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" }, { "database": "PubMed", "id": "27922006", "url": "https://glygen.org/publication/PubMed/27922006" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Ile473", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "E", "comment": "Abolishes homodimerization.", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" }, { "database": "PubMed", "id": "27922006", "url": "https://glygen.org/publication/PubMed/27922006" } ] } ] }, { "uniprot_canonical_ac": "P20917-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Tyr65", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Decreases ganglioside binding.", "evidence": [ { "database": "UniProtKB", "id": "P20917", "url": "https://www.uniprot.org/uniprotkb/P20917" }, { "database": "PubMed", "id": "27922006", "url": "https://glygen.org/publication/PubMed/27922006" } ] } ] } ], "record_id": "P20917-1" }, { "uniprot_canonical_ac": "Q5S006-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2527, "chemical_mass": 284732.0, "gene_names": "Lrrk2;4921513O20Rik;9330188B09Rik;D630001M17Rik;Gm927;Lrrk2;cI-46", "protein_name": "Leucine-rich repeat serine/threonine-protein kinase 2", "disease": [ { "disease_id": "DOID:0050890", "name": "synucleinopathy", "description": "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.", "url": "https://disease-ontology.org/term/DOID:0050890", "evidence": [ { "id": "0050890", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050890" } ], "weight": 0.0 }, { "disease_id": "DOID:0060371", "name": "Parkinson's disease 8", "description": "A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12.", "url": "https://disease-ontology.org/term/DOID:0060371", "evidence": [ { "id": "0060371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060371" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:9255", "name": "frontotemporal dementia", "description": "A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.", "url": "https://disease-ontology.org/term/DOID:9255", "evidence": [ { "id": "9255", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9255" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of autophagosome assembly", "id": "GO:1902902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902902", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of cell projection organization", "id": "GO:0031344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031344", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of mitochondrial depolarization", "id": "GO:0051900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051900", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "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": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of ER to Golgi vesicle-mediated transport", "id": "GO:0060628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060628", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of SNARE complex assembly", "id": "GO:0035542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035542", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of locomotion", "id": "GO:0040012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040012", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of microglial cell activation", "id": "GO:1903980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903980", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "exploration behavior", "id": "GO:0035640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035640", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "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": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cellular response to dopamine", "id": "GO:1903351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903351", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "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": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "negative regulation of GTPase activity", "id": "GO:0034260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034260", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "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": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "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": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "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": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "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": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "negative regulation of macroautophagy", "id": "GO:0016242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016242", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "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": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "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": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of dendritic spine morphogenesis", "id": "GO:0061001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061001", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "GTP metabolic process", "id": "GO:0046039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046039", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "locomotory exploration behavior", "id": "GO:0035641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035641", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "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": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "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": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "negative regulation of protein targeting to mitochondrion", "id": "GO:1903215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903215", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, glutamatergic", "id": "GO:0051966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051966", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cellular response to manganese ion", "id": "GO:0071287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071287", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "mitochondrion localization", "id": "GO:0051646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051646", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "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": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "synaptic vesicle recycling", "id": "GO:0036465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036465", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "endoplasmic reticulum organization", "id": "GO:0007029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007029", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "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": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "intracellular distribution of mitochondria", "id": "GO:0048312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048312", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "striatum development", "id": "GO:0021756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021756", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of programmed cell death", "id": "GO:0043068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043068", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle endocytosis", "id": "GO:1900242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900242", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of dopamine receptor signaling pathway", "id": "GO:0060161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060161", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "olfactory bulb development", "id": "GO:0021772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "negative regulation of excitatory postsynaptic potential", "id": "GO:0090394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090394", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "negative regulation of protein processing", "id": "GO:0010955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010955", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of neuron maturation", "id": "GO:0014041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014041", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "tangential migration from the subventricular zone to the olfactory bulb", "id": "GO:0022028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022028", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of kidney size", "id": "GO:0035564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035564", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of lysosomal lumen pH", "id": "GO:0035751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035751", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "neuron projection arborization", "id": "GO:0140058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140058", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "positive regulation of protein autoubiquitination", "id": "GO:1902499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902499", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of neuroblast proliferation", "id": "GO:1902692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902692", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle transport", "id": "GO:1902803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902803", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "Wnt signalosome assembly", "id": "GO:1904887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904887", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of retrograde transport, endosome to Golgi", "id": "GO:1905279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905279", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of CAMKK-AMPK signaling cascade", "id": "GO:1905289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905289", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of branching morphogenesis of a nerve", "id": "GO:2000172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000172", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle exocytosis", "id": "GO:2000300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000300", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cellular response to curcumin", "id": "GO:1904644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904644", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "regulation of cAMP/PKA signal transduction", "id": "GO:0141161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141161", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "Golgi-associated vesicle", "id": "GO:0005798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005798", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "endoplasmic reticulum exit site", "id": "GO:0070971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070971", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "Wnt signalosome", "id": "GO:1990909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990909", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "Lewy body", "id": "GO:0097413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097413", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "autolysosome", "id": "GO:0044754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044754", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "multivesicular body, internal vesicle", "id": "GO:0097487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097487", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "cytoplasmic side of mitochondrial outer membrane", "id": "GO:0032473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032473", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "amphisome", "id": "GO:0044753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044753", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "caveola neck", "id": "GO:0099400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099400", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "presynaptic cytosol", "id": "GO:0099523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099523", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "protein kinase A binding", "id": "GO:0051018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051018", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "beta-catenin destruction complex binding", "id": "GO:1904713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904713", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "MAP kinase kinase kinase activity", "id": "GO:0004709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004709", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "signaling receptor complex adaptor activity", "id": "GO:0030159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030159", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "syntaxin-1 binding", "id": "GO:0017075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017075", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "JUN kinase kinase kinase activity", "id": "GO:0004706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004706", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "GTP-dependent protein kinase activity", "id": "GO:0034211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034211", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "peroxidase inhibitor activity", "id": "GO:0036479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036479", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5S006-1", "start_pos": "1073", "end_pos": "1073", "site_lbl": "Thr1073", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1073, "start_aa": "Thr", "end_pos": 1073, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1073", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5S006-1", "start_pos": "1470", "end_pos": "1470", "site_lbl": "Thr1470", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1470, "start_aa": "Thr", "end_pos": 1470, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1470", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q5S006", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5S006" } ] } ] }, { "uniprot_canonical_ac": "Q5S006-1", "start_pos": "2035", "end_pos": "2035", "site_lbl": "Thr2035", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2035, "start_aa": "Thr", "end_pos": 2035, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2035", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5S006-1", "start_pos": "1292", "end_pos": "1292", "site_lbl": "Ser1292", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" }, { "database": "iPTMnet", "id": "Q5S006", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5S006" }, { "database": "PubMed", "id": "27474410", "url": "https://glygen.org/publication/PubMed/27474410" }, { "database": "PubMed", "id": "28292328", "url": "https://glygen.org/publication/PubMed/28292328" }, { "database": "PubMed", "id": "30949397", "url": "https://glygen.org/publication/PubMed/30949397" }, { "database": "PubMed", "id": "31149340", "url": "https://glygen.org/publication/PubMed/31149340" }, { "database": "PubMed", "id": "32434048", "url": "https://glygen.org/publication/PubMed/32434048" }, { "database": "PubMed", "id": "33135724", "url": "https://glygen.org/publication/PubMed/33135724" }, { "database": "PubMed", "id": "33298972", "url": "https://glygen.org/publication/PubMed/33298972" } ] } ] }, { "uniprot_canonical_ac": "Q5S006-1", "start_pos": "1444", "end_pos": "1444", "site_lbl": "Ser1444", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" } ] } ] }, { "uniprot_canonical_ac": "Q5S006-1", "start_pos": "1503", "end_pos": "1503", "site_lbl": "Thr1503", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q5S006", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5S006" }, { "database": "PubMed", "id": "21806997", "url": "https://glygen.org/publication/PubMed/21806997" } ] } ] }, { "uniprot_canonical_ac": "Q5S006-1", "start_pos": "910", "end_pos": "910", "site_lbl": "Ser910", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" }, { "database": "iPTMnet", "id": "Q5S006", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5S006" }, { "database": "PubMed", "id": "20642453", "url": "https://glygen.org/publication/PubMed/20642453" }, { "database": "PubMed", "id": "21390248", "url": "https://glygen.org/publication/PubMed/21390248" }, { "database": "PubMed", "id": "22335897", "url": "https://glygen.org/publication/PubMed/22335897" }, { "database": "PubMed", "id": "22723946", "url": "https://glygen.org/publication/PubMed/22723946" }, { "database": "PubMed", "id": "22863203", "url": "https://glygen.org/publication/PubMed/22863203" }, { "database": "PubMed", "id": "23066449", "url": "https://glygen.org/publication/PubMed/23066449" }, { "database": "PubMed", "id": "25939886", "url": "https://glygen.org/publication/PubMed/25939886" }, { "database": "PubMed", "id": "26005538", "url": "https://glygen.org/publication/PubMed/26005538" }, { "database": "PubMed", "id": "27474410", "url": "https://glygen.org/publication/PubMed/27474410" }, { "database": "PubMed", "id": "27658356", "url": "https://glygen.org/publication/PubMed/27658356" }, { "database": "PubMed", "id": "33367571", "url": "https://glygen.org/publication/PubMed/33367571" } ] } ] }, { "uniprot_canonical_ac": "Q5S006-1", "start_pos": "912", "end_pos": "912", "site_lbl": "Ser912", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q5S006", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5S006" }, { "database": "PubMed", "id": "21390248", "url": "https://glygen.org/publication/PubMed/21390248" } ] } ] }, { "uniprot_canonical_ac": "Q5S006-1", "start_pos": "935", "end_pos": "935", "site_lbl": "Ser935", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" }, { "database": "PubMed", "id": "26824392", "url": "https://glygen.org/publication/PubMed/26824392" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5S006", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5S006" }, { "database": "PubMed", "id": "20642453", "url": "https://glygen.org/publication/PubMed/20642453" }, { "database": "PubMed", "id": "21390248", "url": "https://glygen.org/publication/PubMed/21390248" }, { "database": "PubMed", "id": "22335897", "url": "https://glygen.org/publication/PubMed/22335897" }, { "database": "PubMed", "id": "22723946", "url": "https://glygen.org/publication/PubMed/22723946" }, { "database": "PubMed", "id": "22736029", "url": "https://glygen.org/publication/PubMed/22736029" }, { "database": "PubMed", "id": "22863203", "url": "https://glygen.org/publication/PubMed/22863203" }, { "database": "PubMed", "id": "23066449", "url": "https://glygen.org/publication/PubMed/23066449" }, { "database": "PubMed", "id": "23190742", "url": "https://glygen.org/publication/PubMed/23190742" }, { "database": "PubMed", "id": "23318930", "url": "https://glygen.org/publication/PubMed/23318930" }, { "database": "PubMed", "id": "25107341", "url": "https://glygen.org/publication/PubMed/25107341" }, { "database": "PubMed", "id": "25939886", "url": "https://glygen.org/publication/PubMed/25939886" }, { "database": "PubMed", "id": "26005538", "url": "https://glygen.org/publication/PubMed/26005538" }, { "database": "PubMed", "id": "27474410", "url": "https://glygen.org/publication/PubMed/27474410" }, { "database": "PubMed", "id": "27658356", "url": "https://glygen.org/publication/PubMed/27658356" }, { "database": "PubMed", "id": "28103901", "url": "https://glygen.org/publication/PubMed/28103901" }, { "database": "PubMed", "id": "28821568", "url": "https://glygen.org/publication/PubMed/28821568" }, { "database": "PubMed", "id": "29707617", "url": "https://glygen.org/publication/PubMed/29707617" }, { "database": "PubMed", "id": "29855356", "url": "https://glygen.org/publication/PubMed/29855356" }, { "database": "PubMed", "id": "30194047", "url": "https://glygen.org/publication/PubMed/30194047" }, { "database": "PubMed", "id": "31149340", "url": "https://glygen.org/publication/PubMed/31149340" }, { "database": "PubMed", "id": "32643832", "url": "https://glygen.org/publication/PubMed/32643832" }, { "database": "PubMed", "id": "33105882", "url": "https://glygen.org/publication/PubMed/33105882" }, { "database": "PubMed", "id": "33135724", "url": "https://glygen.org/publication/PubMed/33135724" }, { "database": "PubMed", "id": "33367571", "url": "https://glygen.org/publication/PubMed/33367571" }, { "database": "PubMed", "id": "33459343", "url": "https://glygen.org/publication/PubMed/33459343" } ] } ] }, { "uniprot_canonical_ac": "Q5S006-1", "start_pos": "955", "end_pos": "955", "site_lbl": "Ser955", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" }, { "database": "iPTMnet", "id": "Q5S006", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5S006" }, { "database": "PubMed", "id": "22723946", "url": "https://glygen.org/publication/PubMed/22723946" }, { "database": "PubMed", "id": "25939886", "url": "https://glygen.org/publication/PubMed/25939886" } ] } ] }, { "uniprot_canonical_ac": "Q5S006-1", "start_pos": "973", "end_pos": "973", "site_lbl": "Ser973", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" }, { "database": "iPTMnet", "id": "Q5S006", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5S006" }, { "database": "PubMed", "id": "21390248", "url": "https://glygen.org/publication/PubMed/21390248" }, { "database": "PubMed", "id": "25939886", "url": "https://glygen.org/publication/PubMed/25939886" } ] } ] }, { "uniprot_canonical_ac": "Q5S006-1", "start_pos": "765", "end_pos": "765", "site_lbl": "Gly765", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGG->NGS).", "chr_id": "15", "chr_pos": "91613170", "evidence": [ { "id": "rs228108645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228108645" } ] } ] }, { "uniprot_canonical_ac": "Q5S006-1", "start_pos": "863", "end_pos": "863", "site_lbl": "Lys863", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KFS->NFS).", "chr_id": "15", "chr_pos": "91615756", "evidence": [ { "id": "rs50601866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50601866" } ] } ] }, { "uniprot_canonical_ac": "Q5S006-1", "start_pos": "1441", "end_pos": "1441", "site_lbl": "Arg1441", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Impaired ability to recruit SEC61A and SEC31A to endoplasmic reticulum exit sites. Impaired ability to regulate ER to Golgi vesicle-mediated transport.", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" }, { "database": "PubMed", "id": "25201882", "url": "https://glygen.org/publication/PubMed/25201882" } ] }, { "sequence_org": "R", "sequence_mut": "G", "comment": "Increases kinase activity. Reduces primary ciliogenesis. Causes fragmentation of the trans-Golgi network.", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" }, { "database": "PubMed", "id": "29212815", "url": "https://glygen.org/publication/PubMed/29212815" }, { "database": "PubMed", "id": "29125462", "url": "https://glygen.org/publication/PubMed/29125462" }, { "database": "PubMed", "id": "30398148", "url": "https://glygen.org/publication/PubMed/30398148" } ] } ] }, { "uniprot_canonical_ac": "Q5S006-1", "start_pos": "2016", "end_pos": "2016", "site_lbl": "Ala2016", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Does not affect kinase activity and decreases sensitivity towards small molecule kinase inhibitors.", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" }, { "database": "PubMed", "id": "26824392", "url": "https://glygen.org/publication/PubMed/26824392" } ] } ] }, { "uniprot_canonical_ac": "Q5S006-1", "start_pos": "2019", "end_pos": "2019", "site_lbl": "Gly2019", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Increases kinase activity. Causes loss of dopaminergic neurons in the substantia nigra of 20-month old mice due to increased phosphorylation of APP. Reduces primary ciliogenesis.", "evidence": [ { "database": "UniProtKB", "id": "Q5S006", "url": "https://www.uniprot.org/uniprotkb/Q5S006" }, { "database": "PubMed", "id": "28720718", "url": "https://glygen.org/publication/PubMed/28720718" }, { "database": "PubMed", "id": "29125462", "url": "https://glygen.org/publication/PubMed/29125462" }, { "database": "PubMed", "id": "26824392", "url": "https://glygen.org/publication/PubMed/26824392" } ] } ] } ], "record_id": "Q5S006-1" }, { "uniprot_canonical_ac": "Q6NZQ8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 289, "chemical_mass": 32347.0, "gene_names": "Marchf1;2900024D24Rik;March1;Marchf1", "protein_name": "E3 ubiquitin-protein ligase MARCHF1", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" }, { "name": "antigen processing and presentation of peptide antigen via MHC class II", "id": "GO:0002495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002495", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" }, { "name": "MHC protein binding", "id": "GO:0042287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042287", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6NZQ8-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Trp114", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Loss of ubiquitin ligase activity and loss of down-regulation of CD86 cell surface expression.", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" }, { "database": "PubMed", "id": "19880452", "url": "https://glygen.org/publication/PubMed/19880452" } ] } ] }, { "uniprot_canonical_ac": "Q6NZQ8-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Leu225", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Partial loss of down-regulation of CD86 cell surface expression. Almost complete loss of down-regulation of CD86 cell surface expression; when associated with F-232.", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" }, { "database": "PubMed", "id": "19880452", "url": "https://glygen.org/publication/PubMed/19880452" } ] } ] }, { "uniprot_canonical_ac": "Q6NZQ8-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Tyr232", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Almost complete loss of down-regulation of CD86 cell surface expression; when associated with S-225.", "evidence": [ { "database": "UniProtKB", "id": "Q6NZQ8", "url": "https://www.uniprot.org/uniprotkb/Q6NZQ8" }, { "database": "PubMed", "id": "19880452", "url": "https://glygen.org/publication/PubMed/19880452" } ] } ] } ], "record_id": "Q6NZQ8-1" }, { "uniprot_canonical_ac": "Q8CGC4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CGC4", "url": "https://www.uniprot.org/uniprotkb/Q8CGC4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 385, "chemical_mass": 42310.0, "gene_names": "Lsm14b;9430078B04;Fam61b;Lsm14b;Rap55b", "protein_name": "Protein LSM14 homolog B", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8CGC4", "url": "https://www.uniprot.org/uniprotkb/Q8CGC4" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q8CGC4", "url": "https://www.uniprot.org/uniprotkb/Q8CGC4" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q8CGC4", "url": "https://www.uniprot.org/uniprotkb/Q8CGC4" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "Q8CGC4", "url": "https://www.uniprot.org/uniprotkb/Q8CGC4" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q8CGC4", "url": "https://www.uniprot.org/uniprotkb/Q8CGC4" } ], "pmid": "" }, { "name": "membraneless organelle assembly", "id": "GO:0140694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140694", "evidence": [ { "database": "UniProtKB", "id": "Q8CGC4", "url": "https://www.uniprot.org/uniprotkb/Q8CGC4" } ], "pmid": "" }, { "name": "meiotic cell cycle process involved in oocyte maturation", "id": "GO:1903537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903537", "evidence": [ { "database": "UniProtKB", "id": "Q8CGC4", "url": "https://www.uniprot.org/uniprotkb/Q8CGC4" } ], "pmid": "" }, { "name": "maternal mRNA clearance", "id": "GO:0141065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141065", "evidence": [ { "database": "UniProtKB", "id": "Q8CGC4", "url": "https://www.uniprot.org/uniprotkb/Q8CGC4" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "Q8CGC4", "url": "https://www.uniprot.org/uniprotkb/Q8CGC4" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q8CGC4", "url": "https://www.uniprot.org/uniprotkb/Q8CGC4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CGC4-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Ser154", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 154, "start_aa": "Ser", "end_pos": 154, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser154", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8CGC4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CGC4" }, { "id": "Q8CGC4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8CGC4" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGC4", "url": "https://www.uniprot.org/uniprotkb/Q8CGC4" } ] } ] }, { "uniprot_canonical_ac": "Q8CGC4-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Asn368", "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": "GGFRGGRGNGTTR", "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": "Q8CGC4-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Ser106", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGC4", "url": "https://www.uniprot.org/uniprotkb/Q8CGC4" } ] } ] }, { "uniprot_canonical_ac": "Q8CGC4-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Ser115", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGC4", "url": "https://www.uniprot.org/uniprotkb/Q8CGC4" } ] } ] }, { "uniprot_canonical_ac": "Q8CGC4-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Ser165", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGC4", "url": "https://www.uniprot.org/uniprotkb/Q8CGC4" } ] } ] }, { "uniprot_canonical_ac": "Q8CGC4-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Ser329", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGC4", "url": "https://www.uniprot.org/uniprotkb/Q8CGC4" } ] } ] }, { "uniprot_canonical_ac": "Q8CGC4-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Ser349", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGC4", "url": "https://www.uniprot.org/uniprotkb/Q8CGC4" } ] } ] } ], "record_id": "Q8CGC4-1" }, { "uniprot_canonical_ac": "Q8CIP4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 752, "chemical_mass": 82644.0, "gene_names": "Mark4;2410090P21Rik;Kiaa1860;Mark4;Markl1", "protein_name": "MAP/microtubule affinity-regulating kinase 4", "disease": [ { "disease_id": "DOID:0070356", "name": "visual impairment and progressive phthisis bulbi", "description": "An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3.", "url": "https://disease-ontology.org/term/DOID:0070356", "evidence": [ { "id": "0070356", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070356" } ], "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 } ], "biological_process": [ { "name": "microtubule polymerization", "id": "GO:0046785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046785", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "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": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "regulation of centrosome cycle", "id": "GO:0046605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046605", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "cilium organization", "id": "GO:0044782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044782", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "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": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "positive regulation of cilium assembly", "id": "GO:0045724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045724", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "microtubule bundle formation", "id": "GO:0001578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001578", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "cilium disassembly", "id": "GO:0061523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061523", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "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": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "cytoskeletal anchor activity", "id": "GO:0008093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008093", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "tau-protein kinase activity", "id": "GO:0050321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050321", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "gamma-tubulin binding", "id": "GO:0043015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043015", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" }, { "name": "gamma-tubulin complex", "id": "GO:0000930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000930", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CIP4-1", "start_pos": "532", "end_pos": "532", "site_lbl": "Asn532", "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": "ENSSGTSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 532, "start_aa": "Asn", "end_pos": 532, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn532", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8CIP4-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Thr214", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ] } ] }, { "uniprot_canonical_ac": "Q8CIP4-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Ser423", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CIP4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CIP4" } ] } ] }, { "uniprot_canonical_ac": "Q8CIP4-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Ser543", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CIP4", "url": "https://www.uniprot.org/uniprotkb/Q8CIP4" } ] } ] }, { "uniprot_canonical_ac": "Q8CIP4-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Phe206", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEF->NES).", "chr_id": "7", "chr_pos": "19177211", "evidence": [ { "id": "rs3388885536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388885536" } ] } ] }, { "uniprot_canonical_ac": "Q8CIP4-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Asp392", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DTT->NTT).", "chr_id": "7", "chr_pos": "19168584", "evidence": [ { "id": "rs3388877185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388877185" } ] } ] } ], "record_id": "Q8CIP4-1" }, { "uniprot_canonical_ac": "Q91YU6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 671, "chemical_mass": 72578.0, "gene_names": "Lzts2;Kiaa1813;LAPSER1;Lapser1;Lzts2;mKIAA1813", "protein_name": "Leucine zipper putative tumor suppressor 2", "disease": [ { "disease_id": "DOID:18", "name": "urinary system disease", "description": "A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.", "url": "https://disease-ontology.org/term/DOID:18", "evidence": [ { "id": "18", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:18" } ], "weight": 0.0 } ], "biological_process": [ { "name": "microtubule severing", "id": "GO:0051013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051013", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "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": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "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": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "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": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "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": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" }, { "name": "nuclear export", "id": "GO:0051168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051168", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" }, { "name": "ureter morphogenesis", "id": "GO:0072197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072197", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" }, { "name": "spindle midzone assembly", "id": "GO:0051255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051255", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" }, { "name": "primary ureteric bud growth", "id": "GO:0060682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060682", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" }, { "name": "mitotic spindle pole", "id": "GO:0097431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097431", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91YU6-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Ser249", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YU6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YU6" } ] } ] }, { "uniprot_canonical_ac": "Q91YU6-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Ser296", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q91YU6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q91YU6" } ] } ] }, { "uniprot_canonical_ac": "Q91YU6-1", "start_pos": "572", "end_pos": "572", "site_lbl": "Ser572", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91YU6", "url": "https://www.uniprot.org/uniprotkb/Q91YU6" } ] } ] } ], "record_id": "Q91YU6-1" }, { "uniprot_canonical_ac": "Q99J21-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 580, "chemical_mass": 65506.0, "gene_names": "Mcoln1;2210015I05Rik;Mcoln1;TRPML1;Trpml1;mucolipidin", "protein_name": "Mucolipin-1", "disease": [ { "disease_id": "DOID:0060450", "name": "Lisch epithelial corneal dystrophy", "description": "An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19.", "url": "https://disease-ontology.org/term/DOID:0060450", "evidence": [ { "id": "0060450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060450" } ], "weight": 0.0 }, { "disease_id": "DOID:0080490", "name": "mucolipidosis type IV", "description": "A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time.", "url": "https://disease-ontology.org/term/DOID:0080490", "evidence": [ { "id": "0080490", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080490" } ], "weight": 0.0 }, { "disease_id": "DOID:3343", "name": "glycoproteinosis", "description": "A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).", "url": "https://disease-ontology.org/term/DOID:3343", "evidence": [ { "id": "3343", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3343" } ], "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": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "phagosome maturation", "id": "GO:0090382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090382", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "iron ion transmembrane transport", "id": "GO:0034755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034755", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "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": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "monoatomic cation transmembrane transport", "id": "GO:0098655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098655", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "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": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "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": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "cellular response to pH", "id": "GO:0071467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071467", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "intracellular zinc ion homeostasis", "id": "GO:0006882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006882", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "calcium ion export", "id": "GO:1901660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901660", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "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": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "positive regulation of lysosome organization", "id": "GO:1905673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905673", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "antibacterial innate immune response", "id": "GO:0140367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140367", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" } ], "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": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "potassium channel activity", "id": "GO:0005267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005267", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "monoatomic anion channel activity", "id": "GO:0005253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005253", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "monoatomic cation channel activity", "id": "GO:0005261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005261", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "sodium channel activity", "id": "GO:0005272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005272", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "iron ion transmembrane transporter activity", "id": "GO:0005381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005381", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "ligand-gated calcium channel activity", "id": "GO:0099604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099604", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "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": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" } ], "cellular_component": [ { "name": "intracellular vesicle", "id": "GO:0097708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097708", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "phagocytic cup", "id": "GO:0001891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001891", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99J21-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Asn159", "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": "GGGGPWANGSALALCQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 159, "start_aa": "Asn", "end_pos": 159, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn159", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": "", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=5YE5&bu=0&command=select+.D:159;+center+selection;+zoom+selection" }, "start_pos": 159, "start_aa": "Asn", "end_pos": 159, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn159", "evidence": [ { "id": "5YE5", "database": "PDB", "url": "https://www.rcsb.org/structure/5YE5" }, { "id": "5YE5", "database": "PDB", "url": "https://www.rcsb.org/structure/5YE5" }, { "id": "5YE5|D|159", "database": "", "url": "" }, { "id": "5YE5|C|159", "database": "", "url": "" }, { "id": "5YE5|B|159", "database": "", "url": "" }, { "id": "5YE5|A|159", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q99J21-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Asn179", "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": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2514", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2514" } ] }, { "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": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2514", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2514" } ] }, { "glytoucan_ac": "G92275SC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GHVDPANDTFDIDPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q99J21-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Asn220", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q99J21", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99J21#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q99J21-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Asn230", "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": "LINVTIHFQLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 230, "start_aa": "Asn", "end_pos": 230, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn230", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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=5YE5&bu=0&command=select+.D:230;+center+selection;+zoom+selection" }, "start_pos": 230, "start_aa": "Asn", "end_pos": 230, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn230", "evidence": [ { "id": "Q99J21", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q99J21#ptm_processing" }, { "id": "28936784", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28936784" }, { "id": "29019981", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29019981" }, { "id": "5YE5", "database": "PDB", "url": "https://www.rcsb.org/structure/5YE5" }, { "id": "5YE5", "database": "PDB", "url": "https://www.rcsb.org/structure/5YE5" }, { "id": "5YE5|D|230", "database": "", "url": "" }, { "id": "5YE5|C|230", "database": "", "url": "" }, { "id": "5YE5|B|230", "database": "", "url": "" }, { "id": "5YE5|A|230", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q99J21-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Ser10", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" }, { "database": "PubMed", "id": "17208939", "url": "https://glygen.org/publication/PubMed/17208939" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q99J21", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99J21" } ] } ] }, { "uniprot_canonical_ac": "Q99J21-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Ser557", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99J21", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99J21" } ] } ] }, { "uniprot_canonical_ac": "Q99J21-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Ser559", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" } ] } ] }, { "uniprot_canonical_ac": "Q99J21-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Thr232", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Loss of Fe(2+) transport; when associated with P-432.", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" }, { "database": "PubMed", "id": "18794901", "url": "https://glygen.org/publication/PubMed/18794901" } ] } ] }, { "uniprot_canonical_ac": "Q99J21-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Asp362", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Loss of Fe(2+) transport; when associated with P-432.", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" }, { "database": "PubMed", "id": "18794901", "url": "https://glygen.org/publication/PubMed/18794901" } ] } ] }, { "uniprot_canonical_ac": "Q99J21-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Arg403", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Loss of Fe(2+) transport; when associated with P-432.", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" }, { "database": "PubMed", "id": "18794901", "url": "https://glygen.org/publication/PubMed/18794901" } ] } ] }, { "uniprot_canonical_ac": "Q99J21-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Phe408", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "", "comment": "Decreased Fe(2+) transport; when associated with P-432.", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" }, { "database": "PubMed", "id": "18794901", "url": "https://glygen.org/publication/PubMed/18794901" } ] } ] }, { "uniprot_canonical_ac": "Q99J21-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Val432", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "P", "comment": "Constitutively active channel that is targeted to the plasma membrane, and mediates strong inwardly rectifying current.", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" }, { "database": "PubMed", "id": "29019981", "url": "https://glygen.org/publication/PubMed/29019981" }, { "database": "PubMed", "id": "17989217", "url": "https://glygen.org/publication/PubMed/17989217" }, { "database": "PubMed", "id": "18794901", "url": "https://glygen.org/publication/PubMed/18794901" } ] } ] }, { "uniprot_canonical_ac": "Q99J21-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Val446", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Loss of Fe(2+) transport; when associated with P-432.", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" }, { "database": "PubMed", "id": "18794901", "url": "https://glygen.org/publication/PubMed/18794901" } ] } ] }, { "uniprot_canonical_ac": "Q99J21-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Phe465", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Loss of Fe(2+) transport; when associated with P-432.", "evidence": [ { "database": "UniProtKB", "id": "Q99J21", "url": "https://www.uniprot.org/uniprotkb/Q99J21" }, { "database": "PubMed", "id": "18794901", "url": "https://glygen.org/publication/PubMed/18794901" } ] } ] } ], "record_id": "Q99J21-1" }, { "uniprot_canonical_ac": "Q9D0L8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D0L8", "url": "https://www.uniprot.org/uniprotkb/Q9D0L8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 465, "chemical_mass": 53291.0, "gene_names": "Rnmt;2610002P10Rik;Kiaa0398;Rg7mt1;Rnmt;mKIAA0398", "protein_name": "mRNA cap guanine-N(7) methyltransferase", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L8", "url": "https://www.uniprot.org/uniprotkb/Q9D0L8" } ], "pmid": "" }, { "name": "mRNA 5'-cap (guanine-N7-)-methyltransferase activity", "id": "GO:0004482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004482", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L8", "url": "https://www.uniprot.org/uniprotkb/Q9D0L8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L8", "url": "https://www.uniprot.org/uniprotkb/Q9D0L8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L8", "url": "https://www.uniprot.org/uniprotkb/Q9D0L8" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L8", "url": "https://www.uniprot.org/uniprotkb/Q9D0L8" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L8", "url": "https://www.uniprot.org/uniprotkb/Q9D0L8" } ], "pmid": "" }, { "name": "mRNA capping enzyme complex", "id": "GO:0031533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031533", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L8", "url": "https://www.uniprot.org/uniprotkb/Q9D0L8" } ], "pmid": "" }, { "name": "methyltransferase complex", "id": "GO:0034708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034708", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L8", "url": "https://www.uniprot.org/uniprotkb/Q9D0L8" } ], "pmid": "" }, { "name": "mRNA cap methyltransferase RNMT:RAMAC complex", "id": "GO:0160130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160130", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L8", "url": "https://www.uniprot.org/uniprotkb/Q9D0L8" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L8", "url": "https://www.uniprot.org/uniprotkb/Q9D0L8" } ], "pmid": "" }, { "name": "7-methylguanosine mRNA capping", "id": "GO:0006370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006370", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L8", "url": "https://www.uniprot.org/uniprotkb/Q9D0L8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D0L8-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Asn110", "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": "LNQTKRK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 110, "start_aa": "Asn", "end_pos": 110, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn110", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q9D0L8-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Ser100", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L8", "url": "https://www.uniprot.org/uniprotkb/Q9D0L8" }, { "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": "Q9D0L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D0L8" } ] } ] }, { "uniprot_canonical_ac": "Q9D0L8-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Ser105", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L8", "url": "https://www.uniprot.org/uniprotkb/Q9D0L8" } ] } ] }, { "uniprot_canonical_ac": "Q9D0L8-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L8", "url": "https://www.uniprot.org/uniprotkb/Q9D0L8" }, { "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": "Q9D0L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D0L8" } ] } ] }, { "uniprot_canonical_ac": "Q9D0L8-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Ser15", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L8", "url": "https://www.uniprot.org/uniprotkb/Q9D0L8" }, { "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": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q9D0L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D0L8" } ] } ] }, { "uniprot_canonical_ac": "Q9D0L8-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Ser64", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D0L8", "url": "https://www.uniprot.org/uniprotkb/Q9D0L8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D0L8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D0L8" } ] } ] } ], "record_id": "Q9D0L8-1" }, { "uniprot_canonical_ac": "Q9D7S0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 255, "chemical_mass": 27524.0, "gene_names": "Lypd8;2210415F13Rik;Lypd8", "protein_name": "Ly6/PLAUR domain-containing protein 8", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" } ], "pmid": "" } ], "biological_process": [ { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D7S0-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Asn105", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q9D7S0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0#ptm_processing" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "In mutant N-D: Abolished N-glycosylation; when associated with D-22; D-30; D-53; D-72; D-76; D-115; D-128; D-154; D-169; D-179; D-200 and D-210.", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" }, { "database": "PubMed", "id": "27027293", "url": "https://glygen.org/publication/PubMed/27027293" } ] } ] }, { "uniprot_canonical_ac": "Q9D7S0-1", "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": "Q9D7S0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0#ptm_processing" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "In mutant N-D: Abolished N-glycosylation; when associated with D-22; D-30; D-53; D-72; D-76; D-105; D-128; D-154; D-169; D-179; D-200 and D-210.", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" }, { "database": "PubMed", "id": "27027293", "url": "https://glygen.org/publication/PubMed/27027293" } ] } ] }, { "uniprot_canonical_ac": "Q9D7S0-1", "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": "Q9D7S0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0#ptm_processing" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "In mutant N-D: Abolished N-glycosylation; when associated with D-22; D-30; D-53; D-72; D-76; D-105; D-115; D-154; D-169; D-179; D-200 and D-210.", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" }, { "database": "PubMed", "id": "27027293", "url": "https://glygen.org/publication/PubMed/27027293" } ] } ] }, { "uniprot_canonical_ac": "Q9D7S0-1", "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": "Q9D7S0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0#ptm_processing" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "In mutant N-D: Abolished N-glycosylation; when associated with D-22; D-30; D-53; D-72; D-76; D-105; D-115; D-128; D-169; D-179; D-200 and D-210.", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" }, { "database": "PubMed", "id": "27027293", "url": "https://glygen.org/publication/PubMed/27027293" } ] } ] }, { "uniprot_canonical_ac": "Q9D7S0-1", "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": "Q9D7S0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NST->IST).", "chr_id": "11", "chr_pos": "58280945", "evidence": [ { "id": "rs3389154233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389154233" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "In mutant N-D: Abolished N-glycosylation; when associated with D-22; D-30; D-53; D-72; D-76; D-105; D-115; D-128; D-154; D-179; D-200 and D-210.", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" }, { "database": "PubMed", "id": "27027293", "url": "https://glygen.org/publication/PubMed/27027293" } ] } ] }, { "uniprot_canonical_ac": "Q9D7S0-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Asn179", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "Q9D7S0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0#ptm_processing" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "In mutant N-D: Abolished N-glycosylation; when associated with D-22; D-30; D-53; D-72; D-76; D-105; D-115; D-128; D-154; D-169; D-200 and D-210.", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" }, { "database": "PubMed", "id": "27027293", "url": "https://glygen.org/publication/PubMed/27027293" } ] } ] }, { "uniprot_canonical_ac": "Q9D7S0-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Asn200", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 200, "start_aa": "Asn", "end_pos": 200, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn200", "evidence": [ { "id": "Q9D7S0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0#ptm_processing" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "In mutant N-D: Abolished N-glycosylation; when associated with D-22; D-30; D-53; D-72; D-76; D-105; D-115; D-128; D-154; D-169; D-179 and D-210.", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" }, { "database": "PubMed", "id": "27027293", "url": "https://glygen.org/publication/PubMed/27027293" } ] } ] }, { "uniprot_canonical_ac": "Q9D7S0-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Asn210", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q9D7S0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0#ptm_processing" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "In mutant N-D: Abolished N-glycosylation; when associated with D-22; D-30; D-53; D-72; D-76; D-105; D-115; D-128; D-154; D-169; D-179 and D-200.", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" }, { "database": "PubMed", "id": "27027293", "url": "https://glygen.org/publication/PubMed/27027293" } ] } ] }, { "uniprot_canonical_ac": "Q9D7S0-1", "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": "Q9D7S0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0#ptm_processing" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "In mutant N-D: Abolished N-glycosylation; when associated with D-30; D-53; D-72; D-76; D-105; D-115; D-128; D-154; D-169; D-179; D-200 and D-210.", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" }, { "database": "PubMed", "id": "27027293", "url": "https://glygen.org/publication/PubMed/27027293" } ] } ] }, { "uniprot_canonical_ac": "Q9D7S0-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Asn30", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 30, "start_aa": "Asn", "end_pos": 30, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn30", "evidence": [ { "id": "Q9D7S0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0#ptm_processing" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "In mutant N-D: Abolished N-glycosylation; when associated with D-22; D-53; D-72; D-76; D-105; D-115; D-128; D-154; D-169; D-179; D-200 and D-210.", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" }, { "database": "PubMed", "id": "27027293", "url": "https://glygen.org/publication/PubMed/27027293" } ] } ] }, { "uniprot_canonical_ac": "Q9D7S0-1", "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": "Q9D7S0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0#ptm_processing" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "In mutant N-D: Abolished N-glycosylation; when associated with D-22; D-30; D-72; D-76; D-105; D-115; D-128; D-154; D-169; D-179; D-200 and D-210.", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" }, { "database": "PubMed", "id": "27027293", "url": "https://glygen.org/publication/PubMed/27027293" } ] } ] }, { "uniprot_canonical_ac": "Q9D7S0-1", "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": "Q9D7S0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0#ptm_processing" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "In mutant N-D: Abolished N-glycosylation; when associated with D-22; D-30; D-53; D-76; D-105; D-115; D-128; D-154; D-169; D-179; D-200 and D-210.", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" }, { "database": "PubMed", "id": "27027293", "url": "https://glygen.org/publication/PubMed/27027293" } ] } ] }, { "uniprot_canonical_ac": "Q9D7S0-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Asn76", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 76, "start_aa": "Asn", "end_pos": 76, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn76", "evidence": [ { "id": "Q9D7S0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0#ptm_processing" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "In mutant N-D: Abolished N-glycosylation; when associated with D-22; D-30; D-53; D-72; D-105; D-115; D-128; D-154; D-169; D-179; D-200 and D-210.", "evidence": [ { "database": "UniProtKB", "id": "Q9D7S0", "url": "https://www.uniprot.org/uniprotkb/Q9D7S0" }, { "database": "PubMed", "id": "27027293", "url": "https://glygen.org/publication/PubMed/27027293" } ] } ] }, { "uniprot_canonical_ac": "Q9D7S0-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Thr107", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAT->NAP).", "chr_id": "11", "chr_pos": "58275585", "evidence": [ { "id": "rs3389160595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389160595" } ] } ] }, { "uniprot_canonical_ac": "Q9D7S0-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ser212", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTS->NTA).", "chr_id": "11", "chr_pos": "58281073", "evidence": [ { "id": "rs26991194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs26991194" } ] } ] }, { "uniprot_canonical_ac": "Q9D7S0-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Lys222", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "11", "chr_pos": "58281105", "evidence": [ { "id": "rs3389134395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389134395" } ] } ] }, { "uniprot_canonical_ac": "Q9D7S0-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Thr78", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NST->NSA).", "chr_id": "11", "chr_pos": "58275498", "evidence": [ { "id": "rs245344845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245344845" } ] } ] } ], "record_id": "Q9D7S0-1" }, { "uniprot_canonical_ac": "Q9WUC3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WUC3", "url": "https://www.uniprot.org/uniprotkb/Q9WUC3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 139, "chemical_mass": 14669.0, "gene_names": "Ly6h;Ly6h", "protein_name": "Lymphocyte antigen 6H", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WUC3", "url": "https://www.uniprot.org/uniprotkb/Q9WUC3" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9WUC3", "url": "https://www.uniprot.org/uniprotkb/Q9WUC3" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "Q9WUC3", "url": "https://www.uniprot.org/uniprotkb/Q9WUC3" } ], "pmid": "" } ], "molecular_function": [ { "name": "acetylcholine receptor binding", "id": "GO:0033130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033130", "evidence": [ { "database": "UniProtKB", "id": "Q9WUC3", "url": "https://www.uniprot.org/uniprotkb/Q9WUC3" } ], "pmid": "" }, { "name": "acetylcholine receptor inhibitor activity", "id": "GO:0030550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030550", "evidence": [ { "database": "UniProtKB", "id": "Q9WUC3", "url": "https://www.uniprot.org/uniprotkb/Q9WUC3" } ], "pmid": "" } ], "biological_process": [ { "name": "acetylcholine receptor signaling pathway", "id": "GO:0095500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0095500", "evidence": [ { "database": "UniProtKB", "id": "Q9WUC3", "url": "https://www.uniprot.org/uniprotkb/Q9WUC3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WUC3-1", "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": "Q9WUC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WUC3#ptm_processing" } ] } ] } ], "record_id": "Q9WUC3-1" }, { "uniprot_canonical_ac": "Q91WD2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 767, "chemical_mass": 87387.0, "gene_names": "Trpv6;CAT;CaT1;Cac;Ecac2;Otrpc3;Trpv6", "protein_name": "Transient receptor potential cation channel subfamily V member 6", "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: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: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 } ], "molecular_function": [ { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ], "pmid": "" }, { "name": "calcium channel complex", "id": "GO:0034704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034704", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ], "pmid": "" } ], "biological_process": [ { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ], "pmid": "" }, { "name": "parathyroid hormone secretion", "id": "GO:0035898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035898", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ], "pmid": "" }, { "name": "calcium ion import", "id": "GO:0070509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070509", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ], "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": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91WD2-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Asn397", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 397, "start_aa": "Asn", "end_pos": 397, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn397", "evidence": [ { "id": "Q91WD2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91WD2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91WD2-1", "start_pos": "723", "end_pos": "723", "site_lbl": "Thr723", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 723, "start_aa": "Thr", "end_pos": 723, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr723", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q91WD2-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Tyr201", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ] } ] }, { "uniprot_canonical_ac": "Q91WD2-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Tyr202", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" } ] } ] }, { "uniprot_canonical_ac": "Q91WD2-1", "start_pos": "577", "end_pos": "577", "site_lbl": "Leu577", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "C", "comment": "Abolishes channel activity.", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" }, { "database": "PubMed", "id": "14736889", "url": "https://glygen.org/publication/PubMed/14736889" } ] } ] }, { "uniprot_canonical_ac": "Q91WD2-1", "start_pos": "581", "end_pos": "581", "site_lbl": "Asp581", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes binding of Mg(2+) and increases pore diameter. Impairs intestinal Ca(2+) uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" }, { "database": "PubMed", "id": "14736889", "url": "https://glygen.org/publication/PubMed/14736889" }, { "database": "PubMed", "id": "22878123", "url": "https://glygen.org/publication/PubMed/22878123" }, { "database": "PubMed", "id": "12601087", "url": "https://glygen.org/publication/PubMed/12601087" } ] }, { "sequence_org": "D", "sequence_mut": "C", "comment": "Abolishes channel activity.", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" }, { "database": "PubMed", "id": "12601087", "url": "https://glygen.org/publication/PubMed/12601087" }, { "database": "PubMed", "id": "14736889", "url": "https://glygen.org/publication/PubMed/14736889" } ] }, { "sequence_org": "D", "sequence_mut": "G", "comment": "Increases pore diameter.", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" }, { "database": "PubMed", "id": "12601087", "url": "https://glygen.org/publication/PubMed/12601087" }, { "database": "PubMed", "id": "14736889", "url": "https://glygen.org/publication/PubMed/14736889" } ] } ] }, { "uniprot_canonical_ac": "Q91WD2-1", "start_pos": "586", "end_pos": "586", "site_lbl": "Tyr586", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Abolishes channel activity.", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" }, { "database": "PubMed", "id": "14736889", "url": "https://glygen.org/publication/PubMed/14736889" } ] } ] }, { "uniprot_canonical_ac": "Q91WD2-1", "start_pos": "639", "end_pos": "639", "site_lbl": "Thr639", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes plasma membrane localization and channel activity.", "evidence": [ { "database": "UniProtKB", "id": "Q91WD2", "url": "https://www.uniprot.org/uniprotkb/Q91WD2" }, { "database": "PubMed", "id": "12660155", "url": "https://glygen.org/publication/PubMed/12660155" } ] } ] } ], "record_id": "Q91WD2-1" }, { "uniprot_canonical_ac": "E9Q6P5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q6P5", "url": "https://www.uniprot.org/uniprotkb/E9Q6P5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 843, "chemical_mass": 94203.0, "gene_names": "Ttc7b;Ttc7b;Ttc7l1", "protein_name": "Tetratricopeptide repeat protein 7B", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "E9Q6P5", "url": "https://www.uniprot.org/uniprotkb/E9Q6P5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9Q6P5", "url": "https://www.uniprot.org/uniprotkb/E9Q6P5" } ], "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": "E9Q6P5", "url": "https://www.uniprot.org/uniprotkb/E9Q6P5" } ], "pmid": "" }, { "name": "phosphatidylinositol phosphate biosynthetic process", "id": "GO:0046854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046854", "evidence": [ { "database": "UniProtKB", "id": "E9Q6P5", "url": "https://www.uniprot.org/uniprotkb/E9Q6P5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q6P5-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Ser160", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q6P5", "url": "https://www.uniprot.org/uniprotkb/E9Q6P5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q6P5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q6P5" } ] } ] }, { "uniprot_canonical_ac": "E9Q6P5-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Ser202", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q6P5", "url": "https://www.uniprot.org/uniprotkb/E9Q6P5" }, { "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": "E9Q6P5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q6P5" } ] } ] }, { "uniprot_canonical_ac": "E9Q6P5-1", "start_pos": "625", "end_pos": "625", "site_lbl": "Ser625", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q6P5", "url": "https://www.uniprot.org/uniprotkb/E9Q6P5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q6P5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q6P5" } ] } ] }, { "uniprot_canonical_ac": "E9Q6P5-1", "start_pos": "629", "end_pos": "629", "site_lbl": "Ser629", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q6P5", "url": "https://www.uniprot.org/uniprotkb/E9Q6P5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q6P5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q6P5" } ] } ] }, { "uniprot_canonical_ac": "E9Q6P5-1", "start_pos": "630", "end_pos": "630", "site_lbl": "Ser630", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q6P5", "url": "https://www.uniprot.org/uniprotkb/E9Q6P5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q6P5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q6P5" } ] } ] }, { "uniprot_canonical_ac": "E9Q6P5-1", "start_pos": "673", "end_pos": "673", "site_lbl": "Ser673", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q6P5", "url": "https://www.uniprot.org/uniprotkb/E9Q6P5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q6P5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q6P5" } ] } ] }, { "uniprot_canonical_ac": "E9Q6P5-1", "start_pos": "677", "end_pos": "677", "site_lbl": "Ser677", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q6P5", "url": "https://www.uniprot.org/uniprotkb/E9Q6P5" }, { "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": "E9Q6P5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q6P5" } ] } ] }, { "uniprot_canonical_ac": "E9Q6P5-1", "start_pos": "678", "end_pos": "678", "site_lbl": "Ser678", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q6P5", "url": "https://www.uniprot.org/uniprotkb/E9Q6P5" }, { "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": "E9Q6P5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q6P5" } ] } ] }, { "uniprot_canonical_ac": "E9Q6P5-1", "start_pos": "681", "end_pos": "681", "site_lbl": "Ser681", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q6P5", "url": "https://www.uniprot.org/uniprotkb/E9Q6P5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q6P5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q6P5" } ] } ] } ], "record_id": "E9Q6P5-1" }, { "uniprot_canonical_ac": "A4Q9F0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 912, "chemical_mass": 105501.0, "gene_names": "Ttll7;1110049N09Rik;4921517B04Rik;C630030B20;Ttll7;mTTLL7", "protein_name": "Tubulin polyglutamylase TTLL7", "disease": [], "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": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "pmid": "" }, { "name": "alpha-tubulin binding", "id": "GO:0043014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043014", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "pmid": "" }, { "name": "protein-glutamic acid ligase activity, initiating", "id": "GO:0106437", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106437", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "pmid": "" }, { "name": "protein-glutamic acid ligase activity, elongating", "id": "GO:0106438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106438", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "pmid": "" } ], "cellular_component": [ { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "pmid": "" }, { "name": "9+0 non-motile cilium", "id": "GO:0097731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097731", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "pmid": "" }, { "name": "protein polyglutamylation", "id": "GO:0018095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018095", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A4Q9F0-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Glu349", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F0", "url": "https://www.uniprot.org/uniprotkb/A4Q9F0" }, { "database": "PubMed", "id": "16901895", "url": "https://glygen.org/publication/PubMed/16901895" } ] } ] } ], "record_id": "A4Q9F0-1" }, { "uniprot_canonical_ac": "Q9JIL5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JIL5", "url": "https://www.uniprot.org/uniprotkb/Q9JIL5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1547, "chemical_mass": 169638.0, "gene_names": "Tulp4;1110057P05Rik;2210038L17Rik;Tulp4;Tusp", "protein_name": "Tubby-related protein 4", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL5", "url": "https://www.uniprot.org/uniprotkb/Q9JIL5" } ], "pmid": "" } ], "biological_process": [ { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL5", "url": "https://www.uniprot.org/uniprotkb/Q9JIL5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JIL5-1", "start_pos": "825", "end_pos": "825", "site_lbl": "Ser825", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 825, "start_aa": "Ser", "end_pos": 825, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser825", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9JIL5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9JIL5" }, { "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": "Q9JIL5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9JIL5" } ] } ] }, { "uniprot_canonical_ac": "Q9JIL5-1", "start_pos": "851", "end_pos": "851", "site_lbl": "Thr851", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 851, "start_aa": "Thr", "end_pos": 851, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr851", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9JIL5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9JIL5" }, { "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": "Q9JIL5-1", "start_pos": "943", "end_pos": "943", "site_lbl": "Thr943", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 943, "start_aa": "Thr", "end_pos": 943, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr943", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q9JIL5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9JIL5" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q9JIL5-1", "start_pos": "1347", "end_pos": "1347", "site_lbl": "Ser1347", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL5", "url": "https://www.uniprot.org/uniprotkb/Q9JIL5" } ] } ] }, { "uniprot_canonical_ac": "Q9JIL5-1", "start_pos": "1378", "end_pos": "1378", "site_lbl": "Ser1378", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL5", "url": "https://www.uniprot.org/uniprotkb/Q9JIL5" } ] } ] }, { "uniprot_canonical_ac": "Q9JIL5-1", "start_pos": "577", "end_pos": "577", "site_lbl": "Ser577", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL5", "url": "https://www.uniprot.org/uniprotkb/Q9JIL5" } ] } ] }, { "uniprot_canonical_ac": "Q9JIL5-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Ser62", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SHC->NHC).", "chr_id": "17", "chr_pos": "6189364", "evidence": [ { "id": "rs3389389710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389389710" } ] } ] } ], "record_id": "Q9JIL5-1" }, { "uniprot_canonical_ac": "Q7TQI8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TQI8", "url": "https://www.uniprot.org/uniprotkb/Q7TQI8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 677, "chemical_mass": 77671.0, "gene_names": "Tspyl2;CDA1;CINAP;Cinap;DENTT;DXBwg1396e;DXHXS1008E;Dentt;E130307F10Rik;Tspx;Tspyl2", "protein_name": "Testis-specific Y-encoded-like protein 2", "disease": [], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI8", "url": "https://www.uniprot.org/uniprotkb/Q7TQI8" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI8", "url": "https://www.uniprot.org/uniprotkb/Q7TQI8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI8", "url": "https://www.uniprot.org/uniprotkb/Q7TQI8" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI8", "url": "https://www.uniprot.org/uniprotkb/Q7TQI8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI8", "url": "https://www.uniprot.org/uniprotkb/Q7TQI8" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI8", "url": "https://www.uniprot.org/uniprotkb/Q7TQI8" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI8", "url": "https://www.uniprot.org/uniprotkb/Q7TQI8" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI8", "url": "https://www.uniprot.org/uniprotkb/Q7TQI8" } ], "pmid": "" }, { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI8", "url": "https://www.uniprot.org/uniprotkb/Q7TQI8" } ], "pmid": "" }, { "name": "negative regulation of DNA replication", "id": "GO:0008156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008156", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI8", "url": "https://www.uniprot.org/uniprotkb/Q7TQI8" } ], "pmid": "" }, { "name": "regulation of protein kinase activity", "id": "GO:0045859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045859", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI8", "url": "https://www.uniprot.org/uniprotkb/Q7TQI8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TQI8-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Thr66", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 66, "start_aa": "Thr", "end_pos": 66, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr66", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q7TQI8-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ser18", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI8", "url": "https://www.uniprot.org/uniprotkb/Q7TQI8" } ] } ] }, { "uniprot_canonical_ac": "Q7TQI8-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Thr333", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI8", "url": "https://www.uniprot.org/uniprotkb/Q7TQI8" } ] } ] }, { "uniprot_canonical_ac": "Q7TQI8-1", "start_pos": "648", "end_pos": "648", "site_lbl": "Ser648", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI8", "url": "https://www.uniprot.org/uniprotkb/Q7TQI8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQI8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQI8" } ] } ] }, { "uniprot_canonical_ac": "Q7TQI8-1", "start_pos": "652", "end_pos": "652", "site_lbl": "Ser652", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI8", "url": "https://www.uniprot.org/uniprotkb/Q7TQI8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQI8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQI8" } ] } ] }, { "uniprot_canonical_ac": "Q7TQI8-1", "start_pos": "655", "end_pos": "655", "site_lbl": "Ser655", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI8", "url": "https://www.uniprot.org/uniprotkb/Q7TQI8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TQI8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TQI8" } ] } ] } ], "record_id": "Q7TQI8-1" }, { "uniprot_canonical_ac": "P46686-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P46686", "url": "https://www.uniprot.org/uniprotkb/P46686" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 562, "chemical_mass": 62724.0, "gene_names": "Tulp2;Pdet;Tulp2", "protein_name": "Tubby-related 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": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P46686", "url": "https://www.uniprot.org/uniprotkb/P46686" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P46686", "url": "https://www.uniprot.org/uniprotkb/P46686" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "P46686", "url": "https://www.uniprot.org/uniprotkb/P46686" } ], "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": "P46686", "url": "https://www.uniprot.org/uniprotkb/P46686" } ], "pmid": "" }, { "name": "phosphoric diester hydrolase activity", "id": "GO:0008081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008081", "evidence": [ { "database": "UniProtKB", "id": "P46686", "url": "https://www.uniprot.org/uniprotkb/P46686" } ], "pmid": "" } ], "biological_process": [ { "name": "protein localization to cilium", "id": "GO:0061512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061512", "evidence": [ { "database": "UniProtKB", "id": "P46686", "url": "https://www.uniprot.org/uniprotkb/P46686" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P46686-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Ser152", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46686", "url": "https://www.uniprot.org/uniprotkb/P46686" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P46686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P46686" } ] } ] }, { "uniprot_canonical_ac": "P46686-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Ser153", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46686", "url": "https://www.uniprot.org/uniprotkb/P46686" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P46686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P46686" } ] } ] }, { "uniprot_canonical_ac": "P46686-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Ser155", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46686", "url": "https://www.uniprot.org/uniprotkb/P46686" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P46686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P46686" } ] } ] }, { "uniprot_canonical_ac": "P46686-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Thr211", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46686", "url": "https://www.uniprot.org/uniprotkb/P46686" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P46686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P46686" } ] } ] }, { "uniprot_canonical_ac": "P46686-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Ser213", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46686", "url": "https://www.uniprot.org/uniprotkb/P46686" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P46686", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P46686" } ] } ] } ], "record_id": "P46686-1" }, { "uniprot_canonical_ac": "Q8BW49-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BW49", "url": "https://www.uniprot.org/uniprotkb/Q8BW49" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 704, "chemical_mass": 78754.0, "gene_names": "Ttc12;E330017O07Rik;Ttc12", "protein_name": "Tetratricopeptide repeat protein 12", "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:0111857", "name": "primary ciliary dyskinesia 45", "description": "A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2.", "url": "https://disease-ontology.org/term/DOID:0111857", "evidence": [ { "id": "0111857", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111857" } ], "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:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "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": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BW49", "url": "https://www.uniprot.org/uniprotkb/Q8BW49" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8BW49", "url": "https://www.uniprot.org/uniprotkb/Q8BW49" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BW49", "url": "https://www.uniprot.org/uniprotkb/Q8BW49" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BW49", "url": "https://www.uniprot.org/uniprotkb/Q8BW49" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q8BW49", "url": "https://www.uniprot.org/uniprotkb/Q8BW49" } ], "pmid": "" } ], "biological_process": [ { "name": "sperm axoneme assembly", "id": "GO:0007288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007288", "evidence": [ { "database": "UniProtKB", "id": "Q8BW49", "url": "https://www.uniprot.org/uniprotkb/Q8BW49" } ], "pmid": "" }, { "name": "axonemal dynein complex assembly", "id": "GO:0070286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070286", "evidence": [ { "database": "UniProtKB", "id": "Q8BW49", "url": "https://www.uniprot.org/uniprotkb/Q8BW49" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BW49-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Thr71", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BW49", "url": "https://www.uniprot.org/uniprotkb/Q8BW49" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BW49", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BW49" } ] } ] } ], "record_id": "Q8BW49-1" }, { "uniprot_canonical_ac": "Q8CHB8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1328, "chemical_mass": 147715.0, "gene_names": "Ttll5;1700048H13Rik;2310009M18Rik;4930556H18Rik;D630041K24Rik;Kiaa0998;Stamp;Ttll5;mKIAA0998", "protein_name": "Tubulin polyglutamylase TTLL5", "disease": [ { "disease_id": "DOID:0111025", "name": "cone-rod dystrophy 19", "description": "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24.", "url": "https://disease-ontology.org/term/DOID:0111025", "evidence": [ { "id": "0111025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111025" } ], "weight": 0.0 } ], "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": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" }, { "name": "protein-glutamic acid ligase activity, initiating", "id": "GO:0106437", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106437", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" }, { "name": "protein-glutamic acid ligase activity, elongating", "id": "GO:0106438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106438", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" }, { "name": "9+0 non-motile cilium", "id": "GO:0097731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097731", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" }, { "name": "fertilization", "id": "GO:0009566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009566", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "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": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" }, { "name": "protein polyglutamylation", "id": "GO:0018095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018095", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" }, { "name": "sperm axoneme assembly", "id": "GO:0007288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007288", "evidence": [ { "database": "UniProtKB", "id": "Q8CHB8", "url": "https://www.uniprot.org/uniprotkb/Q8CHB8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CHB8-1", "start_pos": "1040", "end_pos": "1040", "site_lbl": "Asn1040", "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": "RYNQSLVTAELQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1040, "start_aa": "Asn", "end_pos": 1040, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1040", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8CHB8-1", "start_pos": "1104", "end_pos": "1104", "site_lbl": "Thr1104", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1104, "start_aa": "Thr", "end_pos": 1104, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1104", "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": "12", "chr_pos": "86003433", "evidence": [ { "id": "rs3389211458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389211458" } ] } ] } ], "record_id": "Q8CHB8-1" }, { "uniprot_canonical_ac": "Q925H1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1281, "chemical_mass": 141035.0, "gene_names": "Trps1", "protein_name": "Zinc finger transcription factor Trps1", "disease": [ { "disease_id": "DOID:0080376", "name": "trichorhinophalangeal syndrome type III", "description": "A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23.", "url": "https://disease-ontology.org/term/DOID:0080376", "evidence": [ { "id": "0080376", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080376" } ], "weight": 0.0 }, { "disease_id": "DOID:14743", "name": "trichorhinophalangeal syndrome type I", "description": "A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).", "url": "https://disease-ontology.org/term/DOID:14743", "evidence": [ { "id": "14743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14743" } ], "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 } ], "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": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "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": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "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": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "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": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:1902043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902043", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "pmid": "" }, { "name": "regulation of chondrocyte differentiation", "id": "GO:0032330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032330", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "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": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "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": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q925H1-1", "start_pos": "803", "end_pos": "803", "site_lbl": "Ser803", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 803, "start_aa": "Ser", "end_pos": 803, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser803", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q925H1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q925H1" }, { "id": "Q925H1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q925H1" } ] } ] }, { "uniprot_canonical_ac": "Q925H1-1", "start_pos": "1041", "end_pos": "1041", "site_lbl": "Ser1041", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ] } ] }, { "uniprot_canonical_ac": "Q925H1-1", "start_pos": "1066", "end_pos": "1066", "site_lbl": "Ser1066", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ] } ] }, { "uniprot_canonical_ac": "Q925H1-1", "start_pos": "1085", "end_pos": "1085", "site_lbl": "Ser1085", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ] } ] }, { "uniprot_canonical_ac": "Q925H1-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Ser127", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q925H1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q925H1" } ] } ] }, { "uniprot_canonical_ac": "Q925H1-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Ser178", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ] } ] }, { "uniprot_canonical_ac": "Q925H1-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q925H1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q925H1" } ] } ] }, { "uniprot_canonical_ac": "Q925H1-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Ser90", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ] } ] }, { "uniprot_canonical_ac": "Q925H1-1", "start_pos": "978", "end_pos": "978", "site_lbl": "Ser978", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q925H1", "url": "https://www.uniprot.org/uniprotkb/Q925H1" } ] } ] }, { "uniprot_canonical_ac": "Q925H1-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Tyr434", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YWC->NWC).", "chr_id": "15", "chr_pos": "50694982", "evidence": [ { "id": "rs3406059148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406059148" } ] } ] } ], "record_id": "Q925H1-1" }, { "uniprot_canonical_ac": "Q99LG4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 440, "chemical_mass": 48795.0, "gene_names": "Ttc5;Strap;Ttc5", "protein_name": "Tetratricopeptide repeat protein 5", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" } ], "pmid": "" }, { "name": "ribosome binding", "id": "GO:0043022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043022", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" } ], "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": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" } ], "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": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99LG4-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Asn424", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G96430BV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PQNSSSQASATVASR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 424, "start_aa": "Asn", "end_pos": 424, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn424", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q99LG4-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" }, { "database": "iPTMnet", "id": "Q99LG4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99LG4" }, { "database": "PubMed", "id": "22362889", "url": "https://glygen.org/publication/PubMed/22362889" }, { "database": "PubMed", "id": "15448695", "url": "https://glygen.org/publication/PubMed/15448695" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation at S-203; decreased nuclear localization in non-stress conditions; loss of nuclear accumulation and stability in response to DNA damage. No change in subcellular localization in non-stress conditions; when associated with 13-L--Y-24. No change in protein accumulation and stability in response to DNA damage; when associated with 13-L--Y-24.", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" }, { "database": "PubMed", "id": "15448695", "url": "https://glygen.org/publication/PubMed/15448695" }, { "database": "PubMed", "id": "18833288", "url": "https://glygen.org/publication/PubMed/18833288" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "No change in subcellular localization in non-stress conditions. No change in protein accumulation and stability in response to DNA damage.", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" }, { "database": "PubMed", "id": "18833288", "url": "https://glygen.org/publication/PubMed/18833288" } ] } ] }, { "uniprot_canonical_ac": "Q99LG4-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Ser221", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" }, { "database": "iPTMnet", "id": "Q99LG4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99LG4" }, { "database": "PubMed", "id": "22362889", "url": "https://glygen.org/publication/PubMed/22362889" }, { "database": "PubMed", "id": "18833288", "url": "https://glygen.org/publication/PubMed/18833288" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased phosphorylation. No change in subcellular localization in non-stress conditions. No change in nuclear accumulation in response to DNA damage. Impaired stability in response to DNA damage.", "evidence": [ { "database": "UniProtKB", "id": "Q99LG4", "url": "https://www.uniprot.org/uniprotkb/Q99LG4" }, { "database": "PubMed", "id": "18833288", "url": "https://glygen.org/publication/PubMed/18833288" } ] } ] } ], "record_id": "Q99LG4-1" }, { "uniprot_canonical_ac": "Q9D6E4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D6E4", "url": "https://www.uniprot.org/uniprotkb/Q9D6E4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 239, "chemical_mass": 25909.0, "gene_names": "Ttc9b;2900074C18Rik;Ttc9b", "protein_name": "Tetratricopeptide repeat protein 9B", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D6E4-1", "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" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "7", "chr_pos": "27353667", "evidence": [ { "id": "rs3545476637", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545476637" } ] } ] }, { "uniprot_canonical_ac": "Q9D6E4-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Thr112", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 112, "start_aa": "Thr", "end_pos": 112, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr112", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9D6E4-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Ser27", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D6E4", "url": "https://www.uniprot.org/uniprotkb/Q9D6E4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D6E4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D6E4" } ] } ] }, { "uniprot_canonical_ac": "Q9D6E4-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Ser7", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D6E4", "url": "https://www.uniprot.org/uniprotkb/Q9D6E4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D6E4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D6E4" } ] } ] } ], "record_id": "Q9D6E4-1" }, { "uniprot_canonical_ac": "Q9WTR1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 756, "chemical_mass": 85965.0, "gene_names": "Trpv2;GRC;Grc;OTRPC2;Trpv2;VRL-1;Vrl1", "protein_name": "Transient receptor potential cation channel subfamily V member 2", "disease": [], "cellular_component": [ { "name": "growth cone membrane", "id": "GO:0032584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032584", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "pmid": "" }, { "name": "monoatomic cation channel activity", "id": "GO:0005261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005261", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "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": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "pmid": "" }, { "name": "response to temperature stimulus", "id": "GO:0009266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009266", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "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": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "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": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "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": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WTR1-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Asn567", "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": "APEDSNTTVTEKPTLGQEEEPVPYGGILDASLELFK", "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": "Q9WTR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WTR1-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Ser15", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" }, { "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": "Q9WTR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTR1" } ] } ] }, { "uniprot_canonical_ac": "Q9WTR1-1", "start_pos": "743", "end_pos": "743", "site_lbl": "Ser743", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WTR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTR1" } ] } ] }, { "uniprot_canonical_ac": "Q9WTR1-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Ser755", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9WTR1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTR1" } ] } ] }, { "uniprot_canonical_ac": "Q9WTR1-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ser77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR1", "url": "https://www.uniprot.org/uniprotkb/Q9WTR1" } ] } ] }, { "uniprot_canonical_ac": "Q9WTR1-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Pro256", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSP->NST).", "chr_id": "11", "chr_pos": "62475354", "evidence": [ { "id": "rs233940786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233940786" } ] } ] }, { "uniprot_canonical_ac": "Q9WTR1-1", "start_pos": "651", "end_pos": "651", "site_lbl": "Ser651", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SWS->NWS).", "chr_id": "11", "chr_pos": "62486055", "evidence": [ { "id": "rs3389166291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389166291" } ] } ] } ], "record_id": "Q9WTR1-1" }, { "uniprot_canonical_ac": "P04426-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 370, "chemical_mass": 41086.0, "gene_names": "Wnt1;Int-1;Wnt-1;Wnt1;swaying;sw", "protein_name": "Proto-oncogene Wnt-1", "disease": [ { "disease_id": "DOID:0110347", "name": "osteogenesis imperfecta type 15", "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0110347", "evidence": [ { "id": "0110347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110347" } ], "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: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": "embryonic axis specification", "id": "GO:0000578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000578", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "central nervous system morphogenesis", "id": "GO:0021551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021551", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "metencephalon development", "id": "GO:0022037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022037", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "diencephalon development", "id": "GO:0021536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021536", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "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": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "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": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "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": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "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": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "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": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "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": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "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": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "negative regulation of cellular senescence", "id": "GO:2000773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000773", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "myoblast fusion", "id": "GO:0007520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007520", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "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": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "positive regulation of insulin-like growth factor receptor signaling pathway", "id": "GO:0043568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043568", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "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": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "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": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "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": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "hepatocyte differentiation", "id": "GO:0070365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070365", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "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": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "spinal cord association neuron differentiation", "id": "GO:0021527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021527", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "hematopoietic stem cell proliferation", "id": "GO:0071425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071425", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "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": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "embryonic brain development", "id": "GO:1990403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990403", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "midbrain-hindbrain boundary development", "id": "GO:0030917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030917", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "cell proliferation in midbrain", "id": "GO:0033278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033278", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "myotube differentiation", "id": "GO:0014902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014902", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "forebrain anterior/posterior pattern specification", "id": "GO:0021797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021797", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "cerebellum formation", "id": "GO:0021588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021588", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "midbrain-hindbrain boundary maturation during brain development", "id": "GO:0022004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022004", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "astrocyte-dopaminergic neuron signaling", "id": "GO:0036520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036520", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "neuron fate determination", "id": "GO:0048664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048664", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "midbrain dopaminergic neuron differentiation", "id": "GO:1904948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904948", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "Spemann organizer formation", "id": "GO:0060061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060061", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "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": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "positive regulation of dermatome development", "id": "GO:0061184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061184", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "frizzled binding", "id": "GO:0005109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005109", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" }, { "name": "Wnt signalosome", "id": "GO:1990909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990909", "evidence": [ { "database": "UniProtKB", "id": "P04426", "url": "https://www.uniprot.org/uniprotkb/P04426" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P04426-1", "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": "P04426", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04426#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P04426-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Asn316", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 316, "start_aa": "Asn", "end_pos": 316, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn316", "evidence": [ { "id": "P04426", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04426#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P04426-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Asn346", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 346, "start_aa": "Asn", "end_pos": 346, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn346", "evidence": [ { "id": "P04426", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04426#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P04426-1", "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": "P04426", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04426#ptm_processing" } ] } ] } ], "record_id": "P04426-1" }, { "uniprot_canonical_ac": "Q99MN9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99MN9", "url": "https://www.uniprot.org/uniprotkb/Q99MN9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 541, "chemical_mass": 58409.0, "gene_names": "Pccb;1300012P06Rik;Pccb", "protein_name": "Propionyl-CoA carboxylase beta 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": "Q99MN9", "url": "https://www.uniprot.org/uniprotkb/Q99MN9" } ], "pmid": "" }, { "name": "propionyl-CoA carboxylase activity", "id": "GO:0004658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004658", "evidence": [ { "database": "UniProtKB", "id": "Q99MN9", "url": "https://www.uniprot.org/uniprotkb/Q99MN9" } ], "pmid": "" }, { "name": "acetyl-CoA carboxylase activity", "id": "GO:0003989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003989", "evidence": [ { "database": "UniProtKB", "id": "Q99MN9", "url": "https://www.uniprot.org/uniprotkb/Q99MN9" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99MN9", "url": "https://www.uniprot.org/uniprotkb/Q99MN9" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q99MN9", "url": "https://www.uniprot.org/uniprotkb/Q99MN9" } ], "pmid": "" }, { "name": "catalytic complex", "id": "GO:1902494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902494", "evidence": [ { "database": "UniProtKB", "id": "Q99MN9", "url": "https://www.uniprot.org/uniprotkb/Q99MN9" } ], "pmid": "" }, { "name": "acetyl-CoA carboxylase complex", "id": "GO:0009317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009317", "evidence": [ { "database": "UniProtKB", "id": "Q99MN9", "url": "https://www.uniprot.org/uniprotkb/Q99MN9" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid catabolic process", "id": "GO:0009062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009062", "evidence": [ { "database": "UniProtKB", "id": "Q99MN9", "url": "https://www.uniprot.org/uniprotkb/Q99MN9" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q99MN9", "url": "https://www.uniprot.org/uniprotkb/Q99MN9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99MN9-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Asn161", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41855OJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IMDQAITVGAPVIGLNDSGGAR", "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" } ] } ] }, { "uniprot_canonical_ac": "Q99MN9-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Ser73", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MN9", "url": "https://www.uniprot.org/uniprotkb/Q99MN9" } ] } ] }, { "uniprot_canonical_ac": "Q99MN9-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Ser163", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDS->NDP).", "chr_id": "9", "chr_pos": "100905251", "evidence": [ { "id": "rs3400650227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400650227" } ] } ] }, { "uniprot_canonical_ac": "Q99MN9-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Pro389", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIP->NIS).", "chr_id": "9", "chr_pos": "100867871", "evidence": [ { "id": "rs3389032767", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389032767" } ] } ] } ], "record_id": "Q99MN9-1" }, { "uniprot_canonical_ac": "Q68FE9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q68FE9", "url": "https://www.uniprot.org/uniprotkb/Q68FE9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1030, "chemical_mass": 114223.0, "gene_names": "Tshz2;2900073F20Rik;B830045G17;Kiaa4248;Mtsh2;Sdccag33l;Tsh2;Tshz2;Zfp218;Znf218;mKIAA4248;teashirt2", "protein_name": "Teashirt homolog 2", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q68FE9", "url": "https://www.uniprot.org/uniprotkb/Q68FE9" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q68FE9", "url": "https://www.uniprot.org/uniprotkb/Q68FE9" } ], "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": "Q68FE9", "url": "https://www.uniprot.org/uniprotkb/Q68FE9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q68FE9", "url": "https://www.uniprot.org/uniprotkb/Q68FE9" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q68FE9", "url": "https://www.uniprot.org/uniprotkb/Q68FE9" } ], "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": "Q68FE9", "url": "https://www.uniprot.org/uniprotkb/Q68FE9" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q68FE9", "url": "https://www.uniprot.org/uniprotkb/Q68FE9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q68FE9-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Ser359", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 359, "start_aa": "Ser", "end_pos": 359, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser359", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q68FE9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q68FE9" } ] } ] }, { "uniprot_canonical_ac": "Q68FE9-1", "start_pos": "976", "end_pos": "976", "site_lbl": "Ser976", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q68FE9", "url": "https://www.uniprot.org/uniprotkb/Q68FE9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q68FE9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q68FE9" } ] } ] }, { "uniprot_canonical_ac": "Q68FE9-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Asp103", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "2", "chr_pos": "169725712", "evidence": [ { "id": "rs3388608423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388608423" } ] } ] }, { "uniprot_canonical_ac": "Q68FE9-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Lys204", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KLC->NLC).", "chr_id": "2", "chr_pos": "169726017", "evidence": [ { "id": "rs3388612716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388612716" } ] } ] }, { "uniprot_canonical_ac": "Q68FE9-1", "start_pos": "572", "end_pos": "572", "site_lbl": "Ala572", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "2", "chr_pos": "169727119", "evidence": [ { "id": "rs247325136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247325136" } ] } ] } ], "record_id": "Q68FE9-1" }, { "uniprot_canonical_ac": "O54887-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54887", "url": "https://www.uniprot.org/uniprotkb/O54887" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 585, "chemical_mass": 63505.0, "gene_names": "Tsks;Stk22s1;Tsks;Tssks1", "protein_name": "Testis-specific serine kinase substrate", "disease": [], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O54887", "url": "https://www.uniprot.org/uniprotkb/O54887" } ], "pmid": "" } ], "cellular_component": [ { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "O54887", "url": "https://www.uniprot.org/uniprotkb/O54887" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "O54887", "url": "https://www.uniprot.org/uniprotkb/O54887" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O54887-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Ser224", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54887", "url": "https://www.uniprot.org/uniprotkb/O54887" } ] } ] }, { "uniprot_canonical_ac": "O54887-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Ser281", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54887", "url": "https://www.uniprot.org/uniprotkb/O54887" }, { "database": "iPTMnet", "id": "O54887", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54887" }, { "database": "PubMed", "id": "18533145", "url": "https://glygen.org/publication/PubMed/18533145" } ] } ] }, { "uniprot_canonical_ac": "O54887-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ser309", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54887", "url": "https://www.uniprot.org/uniprotkb/O54887" } ] } ] } ], "record_id": "O54887-1" }, { "uniprot_canonical_ac": "Q9DBN4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DBN4", "url": "https://www.uniprot.org/uniprotkb/Q9DBN4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 303, "chemical_mass": 32715.0, "gene_names": "4833439L19Rik;P33monox;4833439L19Rik;4930558H15Rik;Kiaa1191;P33monox", "protein_name": "Putative monooxygenase p33MONOX", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DBN4", "url": "https://www.uniprot.org/uniprotkb/Q9DBN4" } ], "pmid": "" } ], "molecular_function": [ { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q9DBN4", "url": "https://www.uniprot.org/uniprotkb/Q9DBN4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DBN4-1", "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" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBN4", "url": "https://www.uniprot.org/uniprotkb/Q9DBN4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DBN4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DBN4" } ] } ] }, { "uniprot_canonical_ac": "Q9DBN4-1", "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" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBN4", "url": "https://www.uniprot.org/uniprotkb/Q9DBN4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DBN4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DBN4" } ] } ] }, { "uniprot_canonical_ac": "Q9DBN4-1", "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" } ] } ] }, { "uniprot_canonical_ac": "Q9DBN4-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Ser183", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBN4", "url": "https://www.uniprot.org/uniprotkb/Q9DBN4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9DBN4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9DBN4" } ] } ] } ], "record_id": "Q9DBN4-1" }, { "uniprot_canonical_ac": "Q66JY6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q66JY6", "url": "https://www.uniprot.org/uniprotkb/Q66JY6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 344, "chemical_mass": 39106.0, "gene_names": "Arhgef39;Arhgef39;E130306D19Rik", "protein_name": "Rho guanine nucleotide exchange factor 39", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q66JY6", "url": "https://www.uniprot.org/uniprotkb/Q66JY6" } ], "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": "Q66JY6", "url": "https://www.uniprot.org/uniprotkb/Q66JY6" } ], "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": "Q66JY6", "url": "https://www.uniprot.org/uniprotkb/Q66JY6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q66JY6-1" }, { "uniprot_canonical_ac": "Q99M51-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 377, "chemical_mass": 42891.0, "gene_names": "Nck1;6330586M15Rik;D230010O13Rik;Nck-1;Nck1;Nck", "protein_name": "SH2/SH3 adapter protein Nck1", "disease": [], "molecular_function": [ { "name": "eukaryotic initiation factor eIF2 binding", "id": "GO:0071074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071074", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "ephrin receptor binding", "id": "GO:0046875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046875", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "protein kinase inhibitor activity", "id": "GO:0004860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004860", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "receptor tyrosine kinase binding", "id": "GO:0030971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030971", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "protein sequestering activity", "id": "GO:0140311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140311", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" } ], "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": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "response to other organism", "id": "GO:0051707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051707", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "positive regulation of cap-independent translational initiation", "id": "GO:1903679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903679", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "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": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "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": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "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": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "ephrin receptor signaling pathway", "id": "GO:0048013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048013", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "lamellipodium assembly", "id": "GO:0030032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030032", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902237", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "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": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "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": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "substrate-dependent cell migration, cell extension", "id": "GO:0006930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006930", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "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": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "positive regulation of translation in response to endoplasmic reticulum stress", "id": "GO:0036493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036493", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "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": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "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": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "antiviral innate immune response", "id": "GO:0140374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140374", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "regulation of translation initiation in response to endoplasmic reticulum stress", "id": "GO:0036491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036491", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" } ], "cellular_component": [ { "name": "protein phosphatase type 1 complex", "id": "GO:0000164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000164", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "vesicle membrane", "id": "GO:0012506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012506", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99M51-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Tyr105", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" }, { "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": "Q99M51", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99M51" } ] } ] }, { "uniprot_canonical_ac": "Q99M51-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Ser166", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99M51", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99M51" } ] } ] }, { "uniprot_canonical_ac": "Q99M51-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Ser85", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q99M51", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99M51" } ] } ] }, { "uniprot_canonical_ac": "Q99M51-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Ser91", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ] } ] }, { "uniprot_canonical_ac": "Q99M51-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Ser96", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99M51", "url": "https://www.uniprot.org/uniprotkb/Q99M51" } ] } ] } ], "record_id": "Q99M51-1" }, { "uniprot_canonical_ac": "P97820-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1233, "chemical_mass": 140602.0, "gene_names": "Map4k4;9430080K19Rik;HGK;Map4k4;Nik", "protein_name": "Mitogen-activated protein kinase kinase kinase kinase 4", "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: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: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: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: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 } ], "molecular_function": [ { "name": "creatine kinase activity", "id": "GO:0004111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004111", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "MAP kinase kinase kinase kinase activity", "id": "GO:0008349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008349", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" } ], "biological_process": [ { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "hippo signaling", "id": "GO:0035329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035329", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "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": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte migration", "id": "GO:0051549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051549", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "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": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "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": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "regulation of JNK cascade", "id": "GO:0046328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046328", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "positive regulation of hippo signaling", "id": "GO:0035332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035332", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "regulation of MAPK cascade", "id": "GO:0043408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "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": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" }, { "name": "positive regulation of ARF protein signal transduction", "id": "GO:0032014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032014", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "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": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97820-1", "start_pos": "1204", "end_pos": "1204", "site_lbl": "Asn1204", "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": "SNQTMGWGEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1204, "start_aa": "Asn", "end_pos": 1204, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1204", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Ser323", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97820", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Ser325", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97820", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Ser543", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97820", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ser5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "619", "end_pos": "619", "site_lbl": "Ser619", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Ser621", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "629", "end_pos": "629", "site_lbl": "Ser629", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97820", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "646", "end_pos": "646", "site_lbl": "Ser646", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97820", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97820" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "1", "chr_pos": "40045890", "evidence": [ { "id": "rs3388465105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388465105" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "691", "end_pos": "691", "site_lbl": "Ser691", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Ser703", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "706", "end_pos": "706", "site_lbl": "Ser706", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "785", "end_pos": "785", "site_lbl": "Ser785", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "794", "end_pos": "794", "site_lbl": "Ser794", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97820", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "795", "end_pos": "795", "site_lbl": "Ser795", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97820", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "799", "end_pos": "799", "site_lbl": "Ser799", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97820", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "817", "end_pos": "817", "site_lbl": "Ser817", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "822", "end_pos": "822", "site_lbl": "Thr822", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "846", "end_pos": "846", "site_lbl": "Ser846", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "849", "end_pos": "849", "site_lbl": "Ser849", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "894", "end_pos": "894", "site_lbl": "Ser894", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97820", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97820" } ] } ] }, { "uniprot_canonical_ac": "P97820-1", "start_pos": "907", "end_pos": "907", "site_lbl": "Ser907", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97820", "url": "https://www.uniprot.org/uniprotkb/P97820" } ] } ] } ], "record_id": "P97820-1" }, { "uniprot_canonical_ac": "P97433-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1700, "chemical_mass": 190489.0, "gene_names": "Arhgef28;9230110L08Rik;Arhgef28;D13Bwg1089e;Kiaa1998;RIP2;Rgnef;RhoGEF;Rhoip2;Rip2;p190RhoGEF", "protein_name": "Rho guanine nucleotide exchange factor 28", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" } ], "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": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" } ], "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": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" } ], "pmid": "" }, { "name": "neurofilament cytoskeleton organization", "id": "GO:0060052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060052", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" } ], "pmid": "" }, { "name": "central nervous system neuron axonogenesis", "id": "GO:0021955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021955", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97433-1", "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": "P97433-1", "start_pos": "532", "end_pos": "532", "site_lbl": "Thr532", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 532, "start_aa": "Thr", "end_pos": 532, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr532", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P97433", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P97433" } ] } ] }, { "uniprot_canonical_ac": "P97433-1", "start_pos": "1535", "end_pos": "1535", "site_lbl": "Ser1535", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" } ] } ] }, { "uniprot_canonical_ac": "P97433-1", "start_pos": "1604", "end_pos": "1604", "site_lbl": "Ser1604", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97433", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97433" } ] } ] }, { "uniprot_canonical_ac": "P97433-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Ser312", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" } ] } ] }, { "uniprot_canonical_ac": "P97433-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Ser314", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" } ] } ] }, { "uniprot_canonical_ac": "P97433-1", "start_pos": "478", "end_pos": "478", "site_lbl": "Ser478", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" } ] } ] }, { "uniprot_canonical_ac": "P97433-1", "start_pos": "623", "end_pos": "623", "site_lbl": "Ser623", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" } ] } ] }, { "uniprot_canonical_ac": "P97433-1", "start_pos": "1579", "end_pos": "1579", "site_lbl": "Pro1579", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKP->NKS).", "chr_id": "13", "chr_pos": "98066117", "evidence": [ { "id": "rs4230018", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4230018" } ] } ] }, { "uniprot_canonical_ac": "P97433-1", "start_pos": "1003", "end_pos": "1003", "site_lbl": "Tyr1003", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Loss of function.", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" }, { "database": "PubMed", "id": "11058585", "url": "https://glygen.org/publication/PubMed/11058585" } ] } ] }, { "uniprot_canonical_ac": "P97433-1", "start_pos": "1375", "end_pos": "1375", "site_lbl": "Asn1375", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Alters interaction with YWHAH.", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" }, { "database": "PubMed", "id": "11533041", "url": "https://glygen.org/publication/PubMed/11533041" } ] } ] }, { "uniprot_canonical_ac": "P97433-1", "start_pos": "1376", "end_pos": "1376", "site_lbl": "Leu1376", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Alters interaction with YWHAH.", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" }, { "database": "PubMed", "id": "11533041", "url": "https://glygen.org/publication/PubMed/11533041" } ] } ] }, { "uniprot_canonical_ac": "P97433-1", "start_pos": "1563", "end_pos": "1563", "site_lbl": "Phe1563", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Alters interaction with MAPK8IP1.", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" }, { "database": "PubMed", "id": "10574993", "url": "https://glygen.org/publication/PubMed/10574993" } ] } ] }, { "uniprot_canonical_ac": "P97433-1", "start_pos": "1565", "end_pos": "1565", "site_lbl": "Asn1565", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Alters interaction with MAPK8IP1.", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" }, { "database": "PubMed", "id": "10574993", "url": "https://glygen.org/publication/PubMed/10574993" } ] } ] }, { "uniprot_canonical_ac": "P97433-1", "start_pos": "1568", "end_pos": "1568", "site_lbl": "Phe1568", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Alters interaction with MAPK8IP1.", "evidence": [ { "database": "UniProtKB", "id": "P97433", "url": "https://www.uniprot.org/uniprotkb/P97433" }, { "database": "PubMed", "id": "10574993", "url": "https://glygen.org/publication/PubMed/10574993" } ] } ] } ], "record_id": "P97433-1" }, { "uniprot_canonical_ac": "P55264-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 361, "chemical_mass": 40149.0, "gene_names": "Adk;2310026J05Rik;5033405D03Rik;Adk;Ak", "protein_name": "Adenosine kinase", "disease": [ { "disease_id": "DOID:0111038", "name": "hypermethioninemia due to adenosine kinase deficiency", "description": "A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:0111038", "evidence": [ { "id": "0111038", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111038" } ], "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: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: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": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "pmid": "" }, { "name": "adenosine kinase activity", "id": "GO:0004001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004001", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "pmid": "" }, { "name": "deoxyadenosine kinase activity", "id": "GO:0004136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004136", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "pmid": "" } ], "biological_process": [ { "name": "adenosine metabolic process", "id": "GO:0046085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046085", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "pmid": "" }, { "name": "purine nucleotide salvage", "id": "GO:0032261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032261", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "pmid": "" }, { "name": "dATP biosynthetic process", "id": "GO:0006175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006175", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "pmid": "" }, { "name": "AMP salvage", "id": "GO:0044209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044209", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "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": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "pmid": "" }, { "name": "purine ribonucleoside salvage", "id": "GO:0006166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006166", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "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": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "pmid": "" }, { "name": "purine nucleobase metabolic process", "id": "GO:0006144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006144", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "pmid": "" }, { "name": "type B pancreatic cell proliferation", "id": "GO:0044342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044342", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "pmid": "" }, { "name": "toxic metabolite repair", "id": "GO:0110052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110052", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P55264-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Tyr76", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" } ] } ] }, { "uniprot_canonical_ac": "P55264-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Ser272", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on in vitro phosphorylation by PKC.", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" }, { "database": "PubMed", "id": "15317590", "url": "https://glygen.org/publication/PubMed/15317590" } ] } ] }, { "uniprot_canonical_ac": "P55264-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Ser328", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on in vitro phosphorylation by PKC.", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" }, { "database": "PubMed", "id": "15317590", "url": "https://glygen.org/publication/PubMed/15317590" } ] } ] }, { "uniprot_canonical_ac": "P55264-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on in vitro phosphorylation by PKC.", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" }, { "database": "PubMed", "id": "15317590", "url": "https://glygen.org/publication/PubMed/15317590" } ] } ] }, { "uniprot_canonical_ac": "P55264-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Ser85", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on in vitro phosphorylation by PKC.", "evidence": [ { "database": "UniProtKB", "id": "P55264", "url": "https://www.uniprot.org/uniprotkb/P55264" }, { "database": "PubMed", "id": "15317590", "url": "https://glygen.org/publication/PubMed/15317590" } ] } ] } ], "record_id": "P55264-1" }, { "uniprot_canonical_ac": "Q7TNR9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TNR9", "url": "https://www.uniprot.org/uniprotkb/Q7TNR9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 484, "chemical_mass": 56679.0, "gene_names": "Arhgef4;9330140K16Rik;Arhgef4;Asef;C230030N03Rik;Kiaa1112", "protein_name": "Rho guanine nucleotide exchange factor 4", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q7TNR9", "url": "https://www.uniprot.org/uniprotkb/Q7TNR9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7TNR9", "url": "https://www.uniprot.org/uniprotkb/Q7TNR9" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "Q7TNR9", "url": "https://www.uniprot.org/uniprotkb/Q7TNR9" } ], "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": "Q7TNR9", "url": "https://www.uniprot.org/uniprotkb/Q7TNR9" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q7TNR9", "url": "https://www.uniprot.org/uniprotkb/Q7TNR9" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q7TNR9", "url": "https://www.uniprot.org/uniprotkb/Q7TNR9" } ], "pmid": "" }, { "name": "filopodium assembly", "id": "GO:0046847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046847", "evidence": [ { "database": "UniProtKB", "id": "Q7TNR9", "url": "https://www.uniprot.org/uniprotkb/Q7TNR9" } ], "pmid": "" }, { "name": "lamellipodium assembly", "id": "GO:0030032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030032", "evidence": [ { "database": "UniProtKB", "id": "Q7TNR9", "url": "https://www.uniprot.org/uniprotkb/Q7TNR9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7TNR9-1" }, { "uniprot_canonical_ac": "Q811L6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2618, "chemical_mass": 284004.0, "gene_names": "Mast4;4930420O11Rik;Mast4;mKIAA0303", "protein_name": "Microtubule-associated serine/threonine-protein kinase 4", "disease": [ { "disease_id": "DOID:0050457", "name": "Sertoli cell-only syndrome", "description": "A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development.", "url": "https://disease-ontology.org/term/DOID:0050457", "evidence": [ { "id": "0050457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050457" } ], "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": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "1309", "end_pos": "1309", "site_lbl": "Thr1309", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1309, "start_aa": "Thr", "end_pos": 1309, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1309", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "1384", "end_pos": "1384", "site_lbl": "Thr1384", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1384, "start_aa": "Thr", "end_pos": 1384, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1384", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "1961", "end_pos": "1961", "site_lbl": "Thr1961", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1961, "start_aa": "Thr", "end_pos": 1961, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1961", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "2163", "end_pos": "2163", "site_lbl": "Ser2163", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2163, "start_aa": "Ser", "end_pos": 2163, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2163", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q811L6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q811L6" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "23443134", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23443134" }, { "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" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (STS->NTS); o-glyco-site-loss (S->N).", "chr_id": "13", "chr_pos": "102872879", "evidence": [ { "id": "rs228739575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228739575" } ] }, { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->I).", "chr_id": "13", "chr_pos": "102872879", "evidence": [ { "id": "rs228739575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228739575" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "2164", "end_pos": "2164", "site_lbl": "Thr2164", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2164, "start_aa": "Thr", "end_pos": 2164, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2164", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q811L6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "2165", "end_pos": "2165", "site_lbl": "Ser2165", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2165, "start_aa": "Ser", "end_pos": 2165, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2165", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q811L6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q811L6" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "23443134", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23443134" }, { "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": "Q811L6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q811L6" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "2172", "end_pos": "2172", "site_lbl": "Ser2172", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2172, "start_aa": "Ser", "end_pos": 2172, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2172", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q811L6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q811L6" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "2174", "end_pos": "2174", "site_lbl": "Thr2174", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2174, "start_aa": "Thr", "end_pos": 2174, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2174", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q811L6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q811L6" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "2176", "end_pos": "2176", "site_lbl": "Thr2176", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2176, "start_aa": "Thr", "end_pos": 2176, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2176", "evidence": [ { "id": "23443134", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23443134" }, { "id": "Q811L6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q811L6" }, { "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": "Q811L6-1", "start_pos": "2177", "end_pos": "2177", "site_lbl": "Thr2177", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2177, "start_aa": "Thr", "end_pos": 2177, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2177", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q811L6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q811L6" }, { "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": "Q811L6-1", "start_pos": "2178", "end_pos": "2178", "site_lbl": "Thr2178", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2178, "start_aa": "Thr", "end_pos": 2178, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2178", "evidence": [ { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "Q811L6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q811L6" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "2182", "end_pos": "2182", "site_lbl": "Thr2182", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2182, "start_aa": "Thr", "end_pos": 2182, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2182", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q811L6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q811L6" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "2183", "end_pos": "2183", "site_lbl": "Thr2183", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2183, "start_aa": "Thr", "end_pos": 2183, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2183", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q811L6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q811L6" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "2184", "end_pos": "2184", "site_lbl": "Thr2184", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2184, "start_aa": "Thr", "end_pos": 2184, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2184", "evidence": [ { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "Q811L6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "2185", "end_pos": "2185", "site_lbl": "Thr2185", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2185, "start_aa": "Thr", "end_pos": 2185, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2185", "evidence": [ { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "Q811L6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "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": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q811L6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q811L6" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "2187", "end_pos": "2187", "site_lbl": "Thr2187", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2187, "start_aa": "Thr", "end_pos": 2187, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2187", "evidence": [ { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "Q811L6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "2188", "end_pos": "2188", "site_lbl": "Ser2188", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2188, "start_aa": "Ser", "end_pos": 2188, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2188", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q811L6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q811L6" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "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": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "Q811L6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Thr319", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 319, "start_aa": "Thr", "end_pos": 319, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr319", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "1290", "end_pos": "1290", "site_lbl": "Ser1290", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q811L6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "1368", "end_pos": "1368", "site_lbl": "Ser1368", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q811L6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "1382", "end_pos": "1382", "site_lbl": "Ser1382", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "1395", "end_pos": "1395", "site_lbl": "Ser1395", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q811L6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "1417", "end_pos": "1417", "site_lbl": "Ser1417", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "1465", "end_pos": "1465", "site_lbl": "Ser1465", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "1521", "end_pos": "1521", "site_lbl": "Ser1521", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "1776", "end_pos": "1776", "site_lbl": "Ser1776", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "1819", "end_pos": "1819", "site_lbl": "Ser1819", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "1906", "end_pos": "1906", "site_lbl": "Ser1906", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Ser204", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q811L6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Ser211", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q811L6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "2439", "end_pos": "2439", "site_lbl": "Ser2439", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "2517", "end_pos": "2517", "site_lbl": "Ser2517", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "2549", "end_pos": "2549", "site_lbl": "Ser2549", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q811L6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Ser268", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "912", "end_pos": "912", "site_lbl": "Ser912", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q811L6", "url": "https://www.uniprot.org/uniprotkb/Q811L6" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "1048", "end_pos": "1048", "site_lbl": "Asp1048", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "13", "chr_pos": "102890711", "evidence": [ { "id": "rs3389303765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389303765" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "901", "end_pos": "901", "site_lbl": "Ser901", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SCS->NCS).", "chr_id": "13", "chr_pos": "102890590", "evidence": [ { "id": "rs3389317538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389317538" } ] } ] }, { "uniprot_canonical_ac": "Q811L6-1", "start_pos": "943", "end_pos": "943", "site_lbl": "Ser943", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SWS->NWS).", "chr_id": "13", "chr_pos": "102888004", "evidence": [ { "id": "rs3389301817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389301817" } ] } ] } ], "record_id": "Q811L6-1" }, { "uniprot_canonical_ac": "Q6PGD0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PGD0", "url": "https://www.uniprot.org/uniprotkb/Q6PGD0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 223, "chemical_mass": 23858.0, "gene_names": "Atraid;0610007C21Rik;Apr3;Atraid;HSPC013;p18", "protein_name": "All-trans retinoic acid-induced differentiation factor", "disease": [], "biological_process": [ { "name": "osteoclast differentiation", "id": "GO:0030316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030316", "evidence": [ { "database": "UniProtKB", "id": "Q6PGD0", "url": "https://www.uniprot.org/uniprotkb/Q6PGD0" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q6PGD0", "url": "https://www.uniprot.org/uniprotkb/Q6PGD0" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "Q6PGD0", "url": "https://www.uniprot.org/uniprotkb/Q6PGD0" } ], "pmid": "" }, { "name": "xenobiotic transmembrane transport", "id": "GO:0006855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006855", "evidence": [ { "database": "UniProtKB", "id": "Q6PGD0", "url": "https://www.uniprot.org/uniprotkb/Q6PGD0" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "Q6PGD0", "url": "https://www.uniprot.org/uniprotkb/Q6PGD0" } ], "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": "Q6PGD0", "url": "https://www.uniprot.org/uniprotkb/Q6PGD0" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q6PGD0", "url": "https://www.uniprot.org/uniprotkb/Q6PGD0" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q6PGD0", "url": "https://www.uniprot.org/uniprotkb/Q6PGD0" } ], "pmid": "" }, { "name": "negative regulation of osteoblast proliferation", "id": "GO:0033689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033689", "evidence": [ { "database": "UniProtKB", "id": "Q6PGD0", "url": "https://www.uniprot.org/uniprotkb/Q6PGD0" } ], "pmid": "" }, { "name": "prenylation", "id": "GO:0097354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097354", "evidence": [ { "database": "UniProtKB", "id": "Q6PGD0", "url": "https://www.uniprot.org/uniprotkb/Q6PGD0" } ], "pmid": "" } ], "molecular_function": [ { "name": "xenobiotic transmembrane transporter activity", "id": "GO:0042910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042910", "evidence": [ { "database": "UniProtKB", "id": "Q6PGD0", "url": "https://www.uniprot.org/uniprotkb/Q6PGD0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q6PGD0", "url": "https://www.uniprot.org/uniprotkb/Q6PGD0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6PGD0", "url": "https://www.uniprot.org/uniprotkb/Q6PGD0" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q6PGD0", "url": "https://www.uniprot.org/uniprotkb/Q6PGD0" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q6PGD0", "url": "https://www.uniprot.org/uniprotkb/Q6PGD0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PGD0-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Asn162", "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": "DLCNSTGSPEMCPENGSCASDGPGLLQCVCADGFHGYK", "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" } ] } ] }, { "uniprot_canonical_ac": "Q6PGD0-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Asn39", "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": "ALALPEICTLCPGGMHNLSR", "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" } ] } ] }, { "uniprot_canonical_ac": "Q6PGD0-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Asn73", "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": "GTILGLDLQNCSLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 73, "start_aa": "Asn", "end_pos": 73, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn73", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "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": "Q6PGD0-1" }, { "uniprot_canonical_ac": "Q3UFY7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UFY7", "url": "https://www.uniprot.org/uniprotkb/Q3UFY7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 300, "chemical_mass": 34425.0, "gene_names": "Nt5c3b;2610037D24Rik;C330027I04Rik;Nt5c3b;Nt5c3l", "protein_name": "7-methylguanosine phosphate-specific 5'-nucleotidase", "disease": [], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q3UFY7", "url": "https://www.uniprot.org/uniprotkb/Q3UFY7" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q3UFY7", "url": "https://www.uniprot.org/uniprotkb/Q3UFY7" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "Q3UFY7", "url": "https://www.uniprot.org/uniprotkb/Q3UFY7" } ], "pmid": "" }, { "name": "5'-nucleotidase activity", "id": "GO:0008253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008253", "evidence": [ { "database": "UniProtKB", "id": "Q3UFY7", "url": "https://www.uniprot.org/uniprotkb/Q3UFY7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3UFY7", "url": "https://www.uniprot.org/uniprotkb/Q3UFY7" } ], "pmid": "" } ], "biological_process": [ { "name": "nucleotide metabolic process", "id": "GO:0009117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009117", "evidence": [ { "database": "UniProtKB", "id": "Q3UFY7", "url": "https://www.uniprot.org/uniprotkb/Q3UFY7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3UFY7-1" }, { "uniprot_canonical_ac": "P32304-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 448, "chemical_mass": 49916.0, "gene_names": "Htr7;5-HT-X;5-HT7;Htr7", "protein_name": "5-hydroxytryptamine receptor 7", "disease": [ { "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: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: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: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: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 } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" } ], "biological_process": [ { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "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": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "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": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "serotonin receptor signaling pathway", "id": "GO:0007210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007210", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "negative regulation of serotonin secretion", "id": "GO:0014063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014063", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "vasoconstriction", "id": "GO:0042310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042310", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "urinary bladder smooth muscle contraction", "id": "GO:0014832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014832", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "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": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "behavioral response to pain", "id": "GO:0048266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048266", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "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": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "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": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "regulation of vein smooth muscle contraction", "id": "GO:0062086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062086", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "smooth muscle contraction", "id": "GO:0006939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006939", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "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": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "neurotransmitter receptor activity", "id": "GO:0030594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030594", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" }, { "name": "serotonin receptor activity", "id": "GO:0099589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099589", "evidence": [ { "database": "UniProtKB", "id": "P32304", "url": "https://www.uniprot.org/uniprotkb/P32304" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P32304-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Asn5", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 5, "start_aa": "Asn", "end_pos": 5, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn5", "evidence": [ { "id": "P32304", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32304#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P32304-1", "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": "P32304", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32304#ptm_processing" } ] } ] } ], "record_id": "P32304-1" }, { "uniprot_canonical_ac": "Q571I9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q571I9", "url": "https://www.uniprot.org/uniprotkb/Q571I9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 802, "chemical_mass": 84756.0, "gene_names": "Aldh16a1;2410004H02Rik;Aldh16a1", "protein_name": "Aldehyde dehydrogenase family 16 member A1", "disease": [], "molecular_function": [ { "name": "aldehyde dehydrogenase (NAD+) activity", "id": "GO:0004029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004029", "evidence": [ { "database": "UniProtKB", "id": "Q571I9", "url": "https://www.uniprot.org/uniprotkb/Q571I9" } ], "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": "Q571I9", "url": "https://www.uniprot.org/uniprotkb/Q571I9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q571I9-1", "start_pos": "618", "end_pos": "618", "site_lbl": "Thr618", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 618, "start_aa": "Thr", "end_pos": 618, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr618", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q571I9-1" }, { "uniprot_canonical_ac": "Q68G58-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q68G58", "url": "https://www.uniprot.org/uniprotkb/Q68G58" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 516, "chemical_mass": 57340.0, "gene_names": "Apex2;Ape2;Apex2;C430040P13Rik;ape2", "protein_name": "DNA-(apurinic or apyrimidinic site) endonuclease 2", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q68G58", "url": "https://www.uniprot.org/uniprotkb/Q68G58" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q68G58", "url": "https://www.uniprot.org/uniprotkb/Q68G58" } ], "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": "Q68G58", "url": "https://www.uniprot.org/uniprotkb/Q68G58" } ], "pmid": "" }, { "name": "phosphoric diester hydrolase activity", "id": "GO:0008081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008081", "evidence": [ { "database": "UniProtKB", "id": "Q68G58", "url": "https://www.uniprot.org/uniprotkb/Q68G58" } ], "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": "Q68G58", "url": "https://www.uniprot.org/uniprotkb/Q68G58" } ], "pmid": "" }, { "name": "endonuclease activity", "id": "GO:0004519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004519", "evidence": [ { "database": "UniProtKB", "id": "Q68G58", "url": "https://www.uniprot.org/uniprotkb/Q68G58" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q68G58", "url": "https://www.uniprot.org/uniprotkb/Q68G58" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q68G58", "url": "https://www.uniprot.org/uniprotkb/Q68G58" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q68G58", "url": "https://www.uniprot.org/uniprotkb/Q68G58" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q68G58", "url": "https://www.uniprot.org/uniprotkb/Q68G58" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q68G58", "url": "https://www.uniprot.org/uniprotkb/Q68G58" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q68G58", "url": "https://www.uniprot.org/uniprotkb/Q68G58" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "Q68G58", "url": "https://www.uniprot.org/uniprotkb/Q68G58" } ], "pmid": "" }, { "name": "base-excision repair", "id": "GO:0006284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006284", "evidence": [ { "database": "UniProtKB", "id": "Q68G58", "url": "https://www.uniprot.org/uniprotkb/Q68G58" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q68G58", "url": "https://www.uniprot.org/uniprotkb/Q68G58" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q68G58-1" }, { "uniprot_canonical_ac": "Q9CSB4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1203, "chemical_mass": 132780.0, "gene_names": "Pard3b;1810008K04Rik;2010002N16Rik;2810455B10Rik;Als2cr19;PAR3B;PAR3L;PAR3beta;Par3l;Pard3b", "protein_name": "Partitioning defective 3 homolog B", "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": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ], "pmid": "" }, { "name": "apical junction complex", "id": "GO:0043296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043296", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ], "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": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CSB4-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Ser100", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ] } ] }, { "uniprot_canonical_ac": "Q9CSB4-1", "start_pos": "1088", "end_pos": "1088", "site_lbl": "Ser1088", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CSB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CSB4" } ] } ] }, { "uniprot_canonical_ac": "Q9CSB4-1", "start_pos": "1182", "end_pos": "1182", "site_lbl": "Ser1182", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ] } ] }, { "uniprot_canonical_ac": "Q9CSB4-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Ser346", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CSB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CSB4" } ] } ] }, { "uniprot_canonical_ac": "Q9CSB4-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Ser352", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CSB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CSB4" } ] } ] }, { "uniprot_canonical_ac": "Q9CSB4-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Ser368", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ] } ] }, { "uniprot_canonical_ac": "Q9CSB4-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Ser635", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CSB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CSB4" } ] } ] }, { "uniprot_canonical_ac": "Q9CSB4-1", "start_pos": "710", "end_pos": "710", "site_lbl": "Ser710", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CSB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CSB4" } ] } ] }, { "uniprot_canonical_ac": "Q9CSB4-1", "start_pos": "728", "end_pos": "728", "site_lbl": "Ser728", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CSB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CSB4" } ] } ] }, { "uniprot_canonical_ac": "Q9CSB4-1", "start_pos": "730", "end_pos": "730", "site_lbl": "Ser730", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CSB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CSB4" } ] } ] }, { "uniprot_canonical_ac": "Q9CSB4-1", "start_pos": "746", "end_pos": "746", "site_lbl": "Ser746", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" }, { "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": "Q9CSB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CSB4" } ] } ] }, { "uniprot_canonical_ac": "Q9CSB4-1", "start_pos": "749", "end_pos": "749", "site_lbl": "Ser749", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" }, { "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": "Q9CSB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CSB4" } ] } ] }, { "uniprot_canonical_ac": "Q9CSB4-1", "start_pos": "801", "end_pos": "801", "site_lbl": "Ser801", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" } ] } ] }, { "uniprot_canonical_ac": "Q9CSB4-1", "start_pos": "810", "end_pos": "810", "site_lbl": "Thr810", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CSB4", "url": "https://www.uniprot.org/uniprotkb/Q9CSB4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CSB4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CSB4" } ] } ] } ], "record_id": "Q9CSB4-1" }, { "uniprot_canonical_ac": "E9Q4S1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 865, "chemical_mass": 96739.0, "gene_names": "Pde8b", "protein_name": "High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B", "disease": [ { "disease_id": "DOID:0070548", "name": "primary pigmented nodular adrenocortical disease 3", "description": "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE8B gene on chromosome 5q13.3.", "url": "https://disease-ontology.org/term/DOID:0070548", "evidence": [ { "id": "0070548", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070548" } ], "weight": 0.0 } ], "biological_process": [ { "name": "operant conditioning", "id": "GO:0035106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035106", "evidence": [ { "database": "UniProtKB", "id": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" } ], "pmid": "" }, { "name": "negative regulation of steroid hormone biosynthetic process", "id": "GO:0090032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090032", "evidence": [ { "database": "UniProtKB", "id": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" } ], "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": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" } ], "pmid": "" }, { "name": "negative regulation of insulin secretion", "id": "GO:0046676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046676", "evidence": [ { "database": "UniProtKB", "id": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" } ], "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": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" } ], "pmid": "" }, { "name": "behavioral fear response", "id": "GO:0001662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001662", "evidence": [ { "database": "UniProtKB", "id": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" } ], "pmid": "" }, { "name": "cAMP catabolic process", "id": "GO:0006198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006198", "evidence": [ { "database": "UniProtKB", "id": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" } ], "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": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" } ], "pmid": "" }, { "name": "3',5'-cyclic-GMP phosphodiesterase activity", "id": "GO:0047555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047555", "evidence": [ { "database": "UniProtKB", "id": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" } ], "pmid": "" }, { "name": "3',5'-cyclic-AMP phosphodiesterase activity", "id": "GO:0004115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004115", "evidence": [ { "database": "UniProtKB", "id": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" } ], "pmid": "" }, { "name": "3',5'-cyclic-nucleotide phosphodiesterase activity", "id": "GO:0004114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004114", "evidence": [ { "database": "UniProtKB", "id": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q4S1-1", "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" } ] } ] }, { "uniprot_canonical_ac": "E9Q4S1-1", "start_pos": "571", "end_pos": "571", "site_lbl": "Asn571", "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": "VFSRFGVCEFLNCTETTLR", "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": "E9Q4S1-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Ser497", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4S1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4S1" } ] } ] }, { "uniprot_canonical_ac": "E9Q4S1-1", "start_pos": "731", "end_pos": "731", "site_lbl": "Ser731", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4S1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4S1" } ] } ] }, { "uniprot_canonical_ac": "E9Q4S1-1", "start_pos": "734", "end_pos": "734", "site_lbl": "Ser734", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q4S1", "url": "https://www.uniprot.org/uniprotkb/E9Q4S1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9Q4S1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9Q4S1" } ] } ] }, { "uniprot_canonical_ac": "E9Q4S1-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Ala443", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "13", "chr_pos": "95182973", "evidence": [ { "id": "rs3389296314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389296314" } ] } ] }, { "uniprot_canonical_ac": "E9Q4S1-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Ser510", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SHS->NHS).", "chr_id": "13", "chr_pos": "95179531", "evidence": [ { "id": "rs3389313499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389313499" } ] } ] } ], "record_id": "E9Q4S1-1" }, { "uniprot_canonical_ac": "O55057-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O55057", "url": "https://www.uniprot.org/uniprotkb/O55057" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 150, "chemical_mass": 17348.0, "gene_names": "Pde6d;Pde6d;PrBP/delta", "protein_name": "Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta", "disease": [ { "disease_id": "DOID:0110991", "name": "Joubert syndrome 22", "description": "A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110991", "evidence": [ { "id": "0110991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110991" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O55057", "url": "https://www.uniprot.org/uniprotkb/O55057" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O55057", "url": "https://www.uniprot.org/uniprotkb/O55057" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "O55057", "url": "https://www.uniprot.org/uniprotkb/O55057" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "O55057", "url": "https://www.uniprot.org/uniprotkb/O55057" } ], "pmid": "" } ], "biological_process": [ { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "O55057", "url": "https://www.uniprot.org/uniprotkb/O55057" } ], "pmid": "" }, { "name": "phototransduction", "id": "GO:0007602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007602", "evidence": [ { "database": "UniProtKB", "id": "O55057", "url": "https://www.uniprot.org/uniprotkb/O55057" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase inhibitor activity", "id": "GO:0005095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005095", "evidence": [ { "database": "UniProtKB", "id": "O55057", "url": "https://www.uniprot.org/uniprotkb/O55057" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "O55057", "url": "https://www.uniprot.org/uniprotkb/O55057" } ], "pmid": "" }, { "name": "3',5'-cyclic-GMP phosphodiesterase activity", "id": "GO:0047555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047555", "evidence": [ { "database": "UniProtKB", "id": "O55057", "url": "https://www.uniprot.org/uniprotkb/O55057" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O55057-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Asn64", "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": "ELNFSSAEQMEK", "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" } ] } ] } ], "record_id": "O55057-1" }, { "uniprot_canonical_ac": "O35386-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35386", "url": "https://www.uniprot.org/uniprotkb/O35386" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 338, "chemical_mass": 38607.0, "gene_names": "Phyh;Ln1;Lnap1;PAHX;Pahx;Phyh", "protein_name": "Phytanoyl-CoA dioxygenase, peroxisomal", "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: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:10582", "name": "Refsum disease", "description": "A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues.", "url": "https://disease-ontology.org/term/DOID:10582", "evidence": [ { "id": "10582", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10582" } ], "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 }, { "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": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O35386", "url": "https://www.uniprot.org/uniprotkb/O35386" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "O35386", "url": "https://www.uniprot.org/uniprotkb/O35386" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "O35386", "url": "https://www.uniprot.org/uniprotkb/O35386" } ], "pmid": "" }, { "name": "9+0 non-motile cilium", "id": "GO:0097731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097731", "evidence": [ { "database": "UniProtKB", "id": "O35386", "url": "https://www.uniprot.org/uniprotkb/O35386" } ], "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": "O35386", "url": "https://www.uniprot.org/uniprotkb/O35386" } ], "pmid": "" }, { "name": "fatty acid alpha-oxidation", "id": "GO:0001561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001561", "evidence": [ { "database": "UniProtKB", "id": "O35386", "url": "https://www.uniprot.org/uniprotkb/O35386" } ], "pmid": "" }, { "name": "isoprenoid metabolic process", "id": "GO:0006720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006720", "evidence": [ { "database": "UniProtKB", "id": "O35386", "url": "https://www.uniprot.org/uniprotkb/O35386" } ], "pmid": "" }, { "name": "methyl-branched fatty acid metabolic process", "id": "GO:0097089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097089", "evidence": [ { "database": "UniProtKB", "id": "O35386", "url": "https://www.uniprot.org/uniprotkb/O35386" } ], "pmid": "" }, { "name": "2-oxobutyrate catabolic process", "id": "GO:0019606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019606", "evidence": [ { "database": "UniProtKB", "id": "O35386", "url": "https://www.uniprot.org/uniprotkb/O35386" } ], "pmid": "" } ], "molecular_function": [ { "name": "catalytic activity", "id": "GO:0003824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003824", "evidence": [ { "database": "UniProtKB", "id": "O35386", "url": "https://www.uniprot.org/uniprotkb/O35386" } ], "pmid": "" }, { "name": "carboxylic acid binding", "id": "GO:0031406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031406", "evidence": [ { "database": "UniProtKB", "id": "O35386", "url": "https://www.uniprot.org/uniprotkb/O35386" } ], "pmid": "" }, { "name": "ferrous iron binding", "id": "GO:0008198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008198", "evidence": [ { "database": "UniProtKB", "id": "O35386", "url": "https://www.uniprot.org/uniprotkb/O35386" } ], "pmid": "" }, { "name": "L-ascorbic acid binding", "id": "GO:0031418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031418", "evidence": [ { "database": "UniProtKB", "id": "O35386", "url": "https://www.uniprot.org/uniprotkb/O35386" } ], "pmid": "" }, { "name": "phytanoyl-CoA dioxygenase activity", "id": "GO:0048244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048244", "evidence": [ { "database": "UniProtKB", "id": "O35386", "url": "https://www.uniprot.org/uniprotkb/O35386" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O35386-1" }, { "uniprot_canonical_ac": "P60335-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 356, "chemical_mass": 37498.0, "gene_names": "Pcbp1;Pcbp1;WBP17;[a]CP-1;alphaCP-1;hnRNP E1;hnRNP-E1", "protein_name": "Poly(rC)-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": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "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": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" }, { "name": "translation activator activity", "id": "GO:0008494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008494", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" }, { "name": "iron chaperone activity", "id": "GO:0034986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034986", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" }, { "name": "sequence-specific single stranded DNA binding", "id": "GO:0098847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098847", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "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": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" }, { "name": "viral RNA genome replication", "id": "GO:0039694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039694", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P60335-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Asn140", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G83633GK", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EIRESTGAQVQVAGDMLPNSTER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "P60335-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Asn84", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06156DS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LEEDINSSMTNSTAASRPPVTLRLVVPATQCGSLIGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 84, "start_aa": "Asn", "end_pos": 84, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn84", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "P60335-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Asn89", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G26330YA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NSTAASR", "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" } ] } ] }, { "uniprot_canonical_ac": "P60335-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Ser173", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" }, { "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": "P60335", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P60335" } ] } ] }, { "uniprot_canonical_ac": "P60335-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Ser189", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P60335", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P60335" } ] } ] }, { "uniprot_canonical_ac": "P60335-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Ser190", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P60335", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P60335" } ] } ] }, { "uniprot_canonical_ac": "P60335-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Ser246", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ] } ] }, { "uniprot_canonical_ac": "P60335-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Ser264", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ] } ] }, { "uniprot_canonical_ac": "P60335-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Ser273", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P60335", "url": "https://www.uniprot.org/uniprotkb/P60335" } ] } ] }, { "uniprot_canonical_ac": "P60335-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Ser43", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P60335", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P60335" }, { "database": "PubMed", "id": "25389050", "url": "https://glygen.org/publication/PubMed/25389050" } ] } ] } ], "record_id": "P60335-1" }, { "uniprot_canonical_ac": "Q50L42-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 875, "chemical_mass": 100157.0, "gene_names": "Pla2g4e;2310026J01Rik;C230096D22;Pla2epsilon;Pla2g4e", "protein_name": "Cytosolic phospholipase A2 epsilon", "disease": [], "molecular_function": [ { "name": "phosphatidylinositol-5-phosphate binding", "id": "GO:0010314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010314", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "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": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4-bisphosphate binding", "id": "GO:0043325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043325", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" }, { "name": "phospholipase A2 activity", "id": "GO:0004623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004623", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,5-bisphosphate binding", "id": "GO:0080025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080025", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" }, { "name": "calcium-dependent phospholipid binding", "id": "GO:0005544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005544", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" }, { "name": "phosphatidylinositol-4-phosphate binding", "id": "GO:0070273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070273", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate binding", "id": "GO:0032266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032266", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" }, { "name": "N-acyltransferase activity", "id": "GO:0016410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016410", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" } ], "biological_process": [ { "name": "glycerophospholipid catabolic process", "id": "GO:0046475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046475", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" }, { "name": "positive regulation of endocytic recycling", "id": "GO:2001137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001137", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" }, { "name": "N-acylphosphatidylethanolamine metabolic process", "id": "GO:0070292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070292", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q50L42-1", "start_pos": "808", "end_pos": "808", "site_lbl": "Ser808", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q50L42", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q50L42" } ] } ] }, { "uniprot_canonical_ac": "Q50L42-1", "start_pos": "420", "end_pos": "420", "site_lbl": "Ser420", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Impairs calcium-dependent biosynthesis of NAPEs and NAEs. Reduces tubule growth and cargo transport from clathrin-independent endosomes.", "evidence": [ { "database": "UniProtKB", "id": "Q50L42", "url": "https://www.uniprot.org/uniprotkb/Q50L42" }, { "database": "PubMed", "id": "24413173", "url": "https://glygen.org/publication/PubMed/24413173" }, { "database": "PubMed", "id": "27399000", "url": "https://glygen.org/publication/PubMed/27399000" } ] } ] } ], "record_id": "Q50L42-1" }, { "uniprot_canonical_ac": "Q9ET54-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1408, "chemical_mass": 152131.0, "gene_names": "Palld;2410003B16Rik;6030492A02;Kiaa0992;Palld", "protein_name": "Palladin", "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 }, { "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 } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "axon guidance receptor activity", "id": "GO:0008046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008046", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "excitatory synapse", "id": "GO:0060076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060076", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" } ], "biological_process": [ { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "keratinocyte development", "id": "GO:0003334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003334", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "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": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "ruffle organization", "id": "GO:0031529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031529", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "epithelial cell morphogenesis", "id": "GO:0003382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003382", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" }, { "name": "positive regulation of podosome assembly", "id": "GO:0071803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071803", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "1225", "end_pos": "1225", "site_lbl": "Ser1225", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1225, "start_aa": "Ser", "end_pos": 1225, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1225", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q9ET54", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "1296", "end_pos": "1296", "site_lbl": "Asn1296", "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": "KENESLTHSTER", "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": "Q9ET54-1", "start_pos": "763", "end_pos": "763", "site_lbl": "Ser763", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 763, "start_aa": "Ser", "end_pos": 763, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser763", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q9ET54", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9ET54" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "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": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "770", "end_pos": "770", "site_lbl": "Ser770", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 770, "start_aa": "Ser", "end_pos": 770, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser770", "evidence": [ { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "Q9ET54", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9ET54" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "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": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "Q9ET54", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "885", "end_pos": "885", "site_lbl": "Thr885", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 885, "start_aa": "Thr", "end_pos": 885, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr885", "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": "8", "chr_pos": "62002611", "evidence": [ { "id": "rs257823688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257823688" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "1004", "end_pos": "1004", "site_lbl": "Ser1004", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ET54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "1009", "end_pos": "1009", "site_lbl": "Ser1009", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ET54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "1126", "end_pos": "1126", "site_lbl": "Ser1126", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "1129", "end_pos": "1129", "site_lbl": "Ser1129", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "1131", "end_pos": "1131", "site_lbl": "Ser1131", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "1141", "end_pos": "1141", "site_lbl": "Ser1141", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ET54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "1143", "end_pos": "1143", "site_lbl": "Ser1143", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" }, { "database": "iPTMnet", "id": "Q9ET54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ET54" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "1146", "end_pos": "1146", "site_lbl": "Ser1146", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" }, { "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": "Q9ET54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "1377", "end_pos": "1377", "site_lbl": "Ser1377", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Ser194", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ET54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "639", "end_pos": "639", "site_lbl": "Ser639", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ET54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "642", "end_pos": "642", "site_lbl": "Thr642", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ET54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "648", "end_pos": "648", "site_lbl": "Ser648", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "700", "end_pos": "700", "site_lbl": "Ser700", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "704", "end_pos": "704", "site_lbl": "Ser704", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "744", "end_pos": "744", "site_lbl": "Ser744", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "901", "end_pos": "901", "site_lbl": "Ser901", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ET54", "url": "https://www.uniprot.org/uniprotkb/Q9ET54" }, { "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": "Q9ET54", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9ET54" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Pro213", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQP->NQS).", "chr_id": "8", "chr_pos": "62330239", "evidence": [ { "id": "rs3388990182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388990182" } ] } ] }, { "uniprot_canonical_ac": "Q9ET54-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Thr90", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TSS->NSS).", "chr_id": "8", "chr_pos": "62330607", "evidence": [ { "id": "rs1131829523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131829523" } ] } ] } ], "record_id": "Q9ET54-1" }, { "uniprot_canonical_ac": "Q9Z0P4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 383, "chemical_mass": 41614.0, "gene_names": "Palm;Palm", "protein_name": "Paralemmin-1", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "filopodium membrane", "id": "GO:0031527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031527", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "dendritic spine membrane", "id": "GO:0032591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032591", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "neuron spine", "id": "GO:0044309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044309", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "apicolateral plasma membrane", "id": "GO:0016327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016327", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of dopamine receptor signaling pathway", "id": "GO:0060160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060160", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "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": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "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": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "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": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "cellular response to electrical stimulus", "id": "GO:0071257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071257", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "synapse maturation", "id": "GO:0060074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060074", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" }, { "name": "regulation of postsynapse assembly", "id": "GO:0150052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150052", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" } ], "molecular_function": [ { "name": "D3 dopamine receptor binding", "id": "GO:0031750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031750", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z0P4-1", "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": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q9Z0P4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Z0P4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0P4-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Thr242", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 242, "start_aa": "Thr", "end_pos": 242, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr242", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9Z0P4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z0P4" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q9Z0P4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Z0P4" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0P4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0P4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0P4-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Ser244", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 244, "start_aa": "Ser", "end_pos": 244, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser244", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9Z0P4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Z0P4" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q9Z0P4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Z0P4" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0P4-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Asn356", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G45290TT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EENQTGPTTTPSDTQDLDMK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 356, "start_aa": "Asn", "end_pos": 356, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn356", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0P4-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Ser116", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0P4-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Ser122", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0P4-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Ser124", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0P4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0P4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0P4-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Thr141", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" }, { "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": "Q9Z0P4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0P4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0P4-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Thr145", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" }, { "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": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q9Z0P4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0P4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0P4-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Thr153", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0P4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0P4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0P4-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Ser157", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0P4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0P4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0P4-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Ser161", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0P4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0P4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0P4-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Ser345", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" }, { "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": "Q9Z0P4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0P4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0P4-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Thr361", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0P4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0P4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0P4-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Thr362", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0P4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0P4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0P4-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Thr363", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0P4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0P4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0P4-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Ser365", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0P4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0P4" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0P4-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Thr367", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0P4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0P4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9Z0P4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Z0P4" } ] } ] } ], "record_id": "Q9Z0P4-1" }, { "uniprot_canonical_ac": "Q99LX0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 189, "chemical_mass": 20021.0, "gene_names": "Park7;DJ-1;Dj1;Park7", "protein_name": "Parkinson disease protein 7 homolog", "disease": [ { "disease_id": "DOID:0060370", "name": "Parkinson's disease 7", "description": "An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0060370", "evidence": [ { "id": "0060370", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060370" } ], "weight": 0.0 }, { "disease_id": "DOID:0060894", "name": "early-onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age.", "url": "https://disease-ontology.org/term/DOID:0060894", "evidence": [ { "id": "0060894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060894" } ], "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: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: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: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 } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903376", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "methylglyoxal catabolic process to lactate", "id": "GO:0061727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061727", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "cellular detoxification of methylglyoxal", "id": "GO:0140041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140041", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1905259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905259", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "synaptic transmission, dopaminergic", "id": "GO:0001963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001963", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane potential", "id": "GO:0051881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051881", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "membrane depolarization", "id": "GO:0051899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051899", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "single fertilization", "id": "GO:0007338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007338", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "removal of superoxide radicals", "id": "GO:0019430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019430", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "androgen receptor signaling pathway", "id": "GO:0030521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030521", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "negative regulation of protein ubiquitination", "id": "GO:0031397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031397", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "membrane hyperpolarization", "id": "GO:0060081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060081", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "detection of oxidative stress", "id": "GO:0070994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070994", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "regulation of androgen receptor signaling pathway", "id": "GO:0060765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060765", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902176", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "insulin secretion", "id": "GO:0030073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030073", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "detoxification of copper ion", "id": "GO:0010273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010273", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "negative regulation of NMDA glutamate receptor activity", "id": "GO:1904782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904782", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "hydrogen peroxide metabolic process", "id": "GO:0042743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042743", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle endocytosis", "id": "GO:1900242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900242", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "negative regulation of protein sumoylation", "id": "GO:0033234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033234", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "positive regulation of acute inflammatory response to antigenic stimulus", "id": "GO:0002866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002866", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "methylglyoxal metabolic process", "id": "GO:0009438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009438", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "positive regulation of fertilization", "id": "GO:1905516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905516", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "protein repair", "id": "GO:0030091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030091", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902177", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "lactate biosynthetic process", "id": "GO:0019249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019249", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "cellular response to glyoxal", "id": "GO:0036471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036471", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "glycolate biosynthetic process", "id": "GO:0046295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046295", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "detoxification of mercury ion", "id": "GO:0050787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050787", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "dopamine uptake involved in synaptic transmission", "id": "GO:0051583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051583", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "guanine deglycation", "id": "GO:0106044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106044", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "guanine deglycation, methylglyoxal removal", "id": "GO:0106045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106045", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "guanine deglycation, glyoxal removal", "id": "GO:0106046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106046", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial electron transport, NADH to ubiquinone", "id": "GO:1902958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902958", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "negative regulation of death-inducing signaling complex assembly", "id": "GO:1903073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903073", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "negative regulation of protein K48-linked deubiquitination", "id": "GO:1903094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903094", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "negative regulation of TRAIL-activated apoptotic signaling pathway", "id": "GO:1903122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903122", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "glyoxal metabolic process", "id": "GO:1903189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903189", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "positive regulation of L-dopa biosynthetic process", "id": "GO:1903197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903197", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "cellular detoxification of aldehyde", "id": "GO:0110095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110095", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "detoxification of hydrogen peroxide", "id": "GO:0061691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061691", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" } ], "molecular_function": [ { "name": "glyoxalase (glycolic acid-forming) activity", "id": "GO:1990422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990422", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "enzyme activator activity", "id": "GO:0008047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008047", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "peptidase inhibitor activity", "id": "GO:0030414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030414", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "signaling receptor activator activity", "id": "GO:0030546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030546", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "nuclear androgen receptor binding", "id": "GO:0050681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050681", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "ubiquitin-specific protease binding", "id": "GO:1990381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990381", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "superoxide dismutase copper chaperone activity", "id": "GO:0016532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016532", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase inhibitor activity", "id": "GO:0055105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055105", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "cuprous ion binding", "id": "GO:1903136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903136", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "cupric ion binding", "id": "GO:1903135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903135", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "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": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "cytokine binding", "id": "GO:0019955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019955", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "peroxiredoxin activity", "id": "GO:0051920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051920", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "oxygen sensor activity", "id": "GO:0019826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019826", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "tyrosine 3-monooxygenase activator activity", "id": "GO:0036470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036470", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "L-dopa decarboxylase activator activity", "id": "GO:0036478", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036478", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "protein deglycase activity", "id": "GO:0036524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036524", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "small protein activating enzyme binding", "id": "GO:0044388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044388", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "ubiquitin-like protein conjugating enzyme binding", "id": "GO:0044390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044390", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "mercury ion binding", "id": "GO:0045340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045340", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" } ], "cellular_component": [ { "name": "sperm head", "id": "GO:0061827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061827", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99LX0-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Asn135", "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": "MMNGSHYSYSESR", "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" } ] } ] }, { "uniprot_canonical_ac": "Q99LX0-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Asn81", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G22572EH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "TQGPYDVVVLPGGNLGAQNLSESPMVK", "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": "Q99LX0-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Tyr67", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" } ] } ] }, { "uniprot_canonical_ac": "Q99LX0-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Cys106", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No sulfinic acid detected following treatment with hydrogen peroxide.", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" }, { "database": "PubMed", "id": "17766438", "url": "https://glygen.org/publication/PubMed/17766438" } ] } ] }, { "uniprot_canonical_ac": "Q99LX0-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Cys46", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Sulfinic acid detected following treatment with hydrogen peroxide.", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" }, { "database": "PubMed", "id": "17766438", "url": "https://glygen.org/publication/PubMed/17766438" } ] } ] }, { "uniprot_canonical_ac": "Q99LX0-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Cys53", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Sulfinic acid detected following treatment with hydrogen peroxide.", "evidence": [ { "database": "UniProtKB", "id": "Q99LX0", "url": "https://www.uniprot.org/uniprotkb/Q99LX0" }, { "database": "PubMed", "id": "17766438", "url": "https://glygen.org/publication/PubMed/17766438" } ] } ] } ], "record_id": "Q99LX0-1" }, { "uniprot_canonical_ac": "Q9ERE7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 224, "chemical_mass": 25207.0, "gene_names": "Mesd;2210015O11Rik;Mesdc2;Mesd;mKIAA0081;msd", "protein_name": "LRP chaperone MESD", "disease": [ { "disease_id": "DOID:0111849", "name": "osteogenesis imperfecta type 20", "description": "An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1.", "url": "https://disease-ontology.org/term/DOID:0111849", "evidence": [ { "id": "0111849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111849" } ], "weight": 0.0 } ], "biological_process": [ { "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": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "pmid": "" }, { "name": "protein localization to cell surface", "id": "GO:0034394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034394", "evidence": [ { "database": "UniProtKB", "id": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "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": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "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": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "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": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "pmid": "" }, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "Q9ERE7", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9ERE7-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Asn192", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q9ERE7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9ERE7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9ERE7-1", "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" } ] } ] }, { "uniprot_canonical_ac": "Q9ERE7-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Tyr28", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAY->NAC).", "chr_id": "7", "chr_pos": "83541580", "evidence": [ { "id": "rs3388923118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388923118" } ] } ] } ], "record_id": "Q9ERE7-1" }, { "uniprot_canonical_ac": "P27546-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1125, "chemical_mass": 117429.0, "gene_names": "Map4;MAP-4;Map4;Mtap-4;Mtap4", "protein_name": "Microtubule-associated protein 4", "disease": [ { "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: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 } ], "biological_process": [ { "name": "microtubule polymerization", "id": "GO:0046785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046785", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "establishment of spindle orientation", "id": "GO:0051294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051294", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "mitotic spindle organization", "id": "GO:0007052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007052", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "microtubule sliding", "id": "GO:0051012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051012", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "cilium disassembly", "id": "GO:0061523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061523", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" }, { "name": "microtubule stabilizing activity", "id": "GO:0140778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140778", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P27546-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Asn161", "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": "DDGLADLLFVSSGPTNASAFTER", "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" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "702", "end_pos": "702", "site_lbl": "Thr702", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 702, "start_aa": "Thr", "end_pos": 702, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr702", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "845", "end_pos": "845", "site_lbl": "Asn845", "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": "NTTPTGAAPPAGMTSTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 845, "start_aa": "Asn", "end_pos": 845, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn845", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "887", "end_pos": "887", "site_lbl": "Ser887", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 887, "start_aa": "Ser", "end_pos": 887, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser887", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "P27546", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P27546" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "28135057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28135057" }, { "id": "39927985", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39927985" }, { "id": "40684658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40684658" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "P27546", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P27546" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SSS->NSS); o-glyco-site-loss (S->N).", "chr_id": "9", "chr_pos": "109897935", "evidence": [ { "id": "rs3389076560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389076560" } ] }, { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->G).", "chr_id": "9", "chr_pos": "109897934", "evidence": [ { "id": "rs3389084976", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389084976" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "1046", "end_pos": "1046", "site_lbl": "Ser1046", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "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": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "1118", "end_pos": "1118", "site_lbl": "Ser1118", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "1124", "end_pos": "1124", "site_lbl": "Ser1124", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Ser254", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Thr260", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Thr277", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Thr349", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Ser381", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Thr410", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Thr447", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Ser475", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "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": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "494", "end_pos": "494", "site_lbl": "Thr494", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "503", "end_pos": "503", "site_lbl": "Thr503", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "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": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Ser506", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "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": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Thr511", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Ser512", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "517", "end_pos": "517", "site_lbl": "Ser517", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "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": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "519", "end_pos": "519", "site_lbl": "Ser519", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "598", "end_pos": "598", "site_lbl": "Ser598", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ser5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Ser60", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "617", "end_pos": "617", "site_lbl": "Ser617", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "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": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "658", "end_pos": "658", "site_lbl": "Thr658", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Ser667", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "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": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" }, { "database": "PubMed", "id": "30327268", "url": "https://glygen.org/publication/PubMed/30327268" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "684", "end_pos": "684", "site_lbl": "Ser684", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "694", "end_pos": "694", "site_lbl": "Ser694", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "737", "end_pos": "737", "site_lbl": "Ser737", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" }, { "database": "PubMed", "id": "30327268", "url": "https://glygen.org/publication/PubMed/30327268" }, { "database": "PubMed", "id": "30906793", "url": "https://glygen.org/publication/PubMed/30906793" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "760", "end_pos": "760", "site_lbl": "Ser760", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" }, { "database": "PubMed", "id": "30327268", "url": "https://glygen.org/publication/PubMed/30327268" }, { "database": "PubMed", "id": "30906793", "url": "https://glygen.org/publication/PubMed/30906793" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "798", "end_pos": "798", "site_lbl": "Ser798", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "826", "end_pos": "826", "site_lbl": "Ser826", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "901", "end_pos": "901", "site_lbl": "Ser901", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "914", "end_pos": "914", "site_lbl": "Ser914", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P27546", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "915", "end_pos": "915", "site_lbl": "Thr915", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "973", "end_pos": "973", "site_lbl": "Ser973", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ] } ] }, { "uniprot_canonical_ac": "P27546-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Ser99", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P27546", "url": "https://www.uniprot.org/uniprotkb/P27546" } ] } ] } ], "record_id": "P27546-1" }, { "uniprot_canonical_ac": "Q9JHU2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 551, "chemical_mass": 62700.0, "gene_names": "Palmd;4631423C22Rik;PALML;Palmd", "protein_name": "Palmdelphin", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JHU2-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Thr479", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 479, "start_aa": "Thr", "end_pos": 479, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr479", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9JHU2-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Ser135", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" } ] } ] }, { "uniprot_canonical_ac": "Q9JHU2-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Thr270", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JHU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JHU2" } ] } ] }, { "uniprot_canonical_ac": "Q9JHU2-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Ser321", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" } ] } ] }, { "uniprot_canonical_ac": "Q9JHU2-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Ser349", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" }, { "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": "Q9JHU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JHU2" } ] } ] }, { "uniprot_canonical_ac": "Q9JHU2-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Ser370", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JHU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JHU2" } ] } ] }, { "uniprot_canonical_ac": "Q9JHU2-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Ser375", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" }, { "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": "Q9JHU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JHU2" } ] } ] }, { "uniprot_canonical_ac": "Q9JHU2-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Ser384", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JHU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JHU2" } ] } ] }, { "uniprot_canonical_ac": "Q9JHU2-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Ser385", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JHU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JHU2" } ] } ] }, { "uniprot_canonical_ac": "Q9JHU2-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Ser498", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" } ] } ] }, { "uniprot_canonical_ac": "Q9JHU2-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Ser515", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9JHU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JHU2" } ] } ] }, { "uniprot_canonical_ac": "Q9JHU2-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Ser520", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JHU2", "url": "https://www.uniprot.org/uniprotkb/Q9JHU2" }, { "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": "Q9JHU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JHU2" } ] } ] }, { "uniprot_canonical_ac": "Q9JHU2-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Asn224", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQN->NQS).", "chr_id": "3", "chr_pos": "116717825", "evidence": [ { "id": "rs3388657287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388657287" } ] } ] } ], "record_id": "Q9JHU2-1" }, { "uniprot_canonical_ac": "Q4LDD4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1452, "chemical_mass": 162276.0, "gene_names": "Arap1;2410002L19Rik;Arap1;Centd2;Kiaa0782;mKIAA0782", "protein_name": "Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1", "disease": [], "biological_process": [ { "name": "regulation of bone resorption", "id": "GO:0045124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045124", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "regulation of cell projection organization", "id": "GO:0031344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031344", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "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": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "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": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "positive regulation of receptor recycling", "id": "GO:0001921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001921", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "regulation of receptor internalization", "id": "GO:0002090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002090", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "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": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "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": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "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": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "type 1 angiotensin receptor binding", "id": "GO:0031702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031702", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "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": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "R-SMAD binding", "id": "GO:0070412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070412", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "extrinsic component of plasma membrane", "id": "GO:0019897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019897", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "Golgi cisterna membrane", "id": "GO:0032580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032580", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q4LDD4-1", "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": "Q4LDD4-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Thr298", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 298, "start_aa": "Thr", "end_pos": 298, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr298", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q4LDD4-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Thr325", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 325, "start_aa": "Thr", "end_pos": 325, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr325", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q4LDD4-1", "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": "Q4LDD4-1", "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": "Q4LDD4-1", "start_pos": "1430", "end_pos": "1430", "site_lbl": "Ser1430", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ] } ] }, { "uniprot_canonical_ac": "Q4LDD4-1", "start_pos": "1437", "end_pos": "1437", "site_lbl": "Ser1437", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q4LDD4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4LDD4" } ] } ] }, { "uniprot_canonical_ac": "Q4LDD4-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Ser232", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ] } ] }, { "uniprot_canonical_ac": "Q4LDD4-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Tyr234", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ] } ] }, { "uniprot_canonical_ac": "Q4LDD4-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Ser430", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ] } ] }, { "uniprot_canonical_ac": "Q4LDD4-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Tyr506", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ] } ] }, { "uniprot_canonical_ac": "Q4LDD4-1", "start_pos": "740", "end_pos": "740", "site_lbl": "Ser740", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" } ] } ] }, { "uniprot_canonical_ac": "Q4LDD4-1", "start_pos": "1028", "end_pos": "1028", "site_lbl": "Asp1028", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "7", "chr_pos": "101049721", "evidence": [ { "id": "rs3388932738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388932738" } ] } ] }, { "uniprot_canonical_ac": "Q4LDD4-1", "start_pos": "87", "end_pos": "87", "site_lbl": "His87", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Does not significantly affect interaction with SH3KBP1.", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" }, { "database": "PubMed", "id": "29589748", "url": "https://glygen.org/publication/PubMed/29589748" } ] }, { "sequence_org": "H", "sequence_mut": "P", "comment": "Significantly reduces interaction with SH3KBP1.", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" }, { "database": "PubMed", "id": "29589748", "url": "https://glygen.org/publication/PubMed/29589748" } ] } ] }, { "uniprot_canonical_ac": "Q4LDD4-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Arg90", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "E", "comment": "Significantly reduces interaction with SH3KBP1.", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" }, { "database": "PubMed", "id": "29589748", "url": "https://glygen.org/publication/PubMed/29589748" } ] }, { "sequence_org": "R", "sequence_mut": "H", "comment": "Does not significantly affect interaction with SH3KBP1.", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" }, { "database": "PubMed", "id": "29589748", "url": "https://glygen.org/publication/PubMed/29589748" } ] }, { "sequence_org": "R", "sequence_mut": "K", "comment": "Does not significantly affect interaction with SH3KBP1.", "evidence": [ { "database": "UniProtKB", "id": "Q4LDD4", "url": "https://www.uniprot.org/uniprotkb/Q4LDD4" }, { "database": "PubMed", "id": "29589748", "url": "https://glygen.org/publication/PubMed/29589748" } ] } ] } ], "record_id": "Q4LDD4-1" }, { "uniprot_canonical_ac": "Q8BWA8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BWA8", "url": "https://www.uniprot.org/uniprotkb/Q8BWA8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 802, "chemical_mass": 88851.0, "gene_names": "Arhgef19;6030432F23;6430573B13Rik;Arhgef19;WGEF;Wgef", "protein_name": "Rho guanine nucleotide exchange factor 19", "disease": [], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q8BWA8", "url": "https://www.uniprot.org/uniprotkb/Q8BWA8" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q8BWA8", "url": "https://www.uniprot.org/uniprotkb/Q8BWA8" } ], "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": "Q8BWA8", "url": "https://www.uniprot.org/uniprotkb/Q8BWA8" } ], "pmid": "" }, { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "Q8BWA8", "url": "https://www.uniprot.org/uniprotkb/Q8BWA8" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q8BWA8", "url": "https://www.uniprot.org/uniprotkb/Q8BWA8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BWA8-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Thr65", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 65, "start_aa": "Thr", "end_pos": 65, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr65", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q8BWA8-1" }, { "uniprot_canonical_ac": "P16110-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 264, "chemical_mass": 27515.0, "gene_names": "Lgals3", "protein_name": "Galectin-3", "disease": [ { "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: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: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: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: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: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: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: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 }, { "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": "oligosaccharide binding", "id": "GO:0070492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070492", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "signaling receptor inhibitor activity", "id": "GO:0030547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030547", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "IgE binding", "id": "GO:0019863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019863", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "advanced glycation end-product receptor activity", "id": "GO:0050785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050785", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "laminin binding", "id": "GO:0043236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043236", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "protein phosphatase inhibitor activity", "id": "GO:0004864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004864", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "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": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "disaccharide binding", "id": "GO:0048030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048030", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "monosaccharide binding", "id": "GO:0048029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048029", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "receptor ligand inhibitor activity", "id": "GO:0141069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141069", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of T cell apoptotic process", "id": "GO:0070232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070232", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "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": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "negative regulation of endocytosis", "id": "GO:0045806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045806", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "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": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "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": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "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": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "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": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "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": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "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": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "monocyte chemotaxis", "id": "GO:0002548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002548", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "positive chemotaxis", "id": "GO:0050918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050918", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "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": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "regulation of extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:1902041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902041", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "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": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "positive regulation of serotonin secretion", "id": "GO:0014064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014064", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "macrophage chemotaxis", "id": "GO:0048246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048246", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "eosinophil chemotaxis", "id": "GO:0048245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048245", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "regulation of T cell proliferation", "id": "GO:0042129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042129", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "negative regulation of NK T cell activation", "id": "GO:0051134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051134", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "NK T cell activation", "id": "GO:0051132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051132", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "mononuclear cell migration", "id": "GO:0071674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071674", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "negative regulation of immunological synapse formation", "id": "GO:2000521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000521", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell", "id": "GO:2001189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001189", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "negative regulation of cell proliferation in bone marrow", "id": "GO:1903769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903769", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "cornified envelope", "id": "GO:0001533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001533", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "immunological synapse", "id": "GO:0001772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001772", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" }, { "name": "glial cell projection", "id": "GO:0097386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097386", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P16110-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Thr75", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 75, "start_aa": "Thr", "end_pos": 75, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr75", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P16110-1", "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": "P16110-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Ser202", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ] } ] }, { "uniprot_canonical_ac": "P16110-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P16110", "url": "https://www.uniprot.org/uniprotkb/P16110" } ] } ] }, { "uniprot_canonical_ac": "P16110-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Pro102", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "14", "chr_pos": "47617795", "evidence": [ { "id": "rs3508046985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3508046985" } ] } ] }, { "uniprot_canonical_ac": "P16110-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Pro135", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "14", "chr_pos": "47619071", "evidence": [ { "id": "rs3389324047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389324047" } ] } ] }, { "uniprot_canonical_ac": "P16110-1", "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, lectin/s-type/galectin.", "chr_id": "14", "chr_pos": "47617528", "evidence": [ { "id": "rs3389324022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389324022" } ] } ] }, { "uniprot_canonical_ac": "P16110-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Tyr62", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/s-type/galectin.", "chr_id": "14", "chr_pos": "47617676", "evidence": [ { "id": "rs13473148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13473148" } ] } ] } ], "record_id": "P16110-1" }, { "uniprot_canonical_ac": "Q9Z110-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z110", "url": "https://www.uniprot.org/uniprotkb/Q9Z110" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 795, "chemical_mass": 87266.0, "gene_names": "Aldh18a1;2810433K04Rik;Aldh18a1;P5cs;Pycs", "protein_name": "Delta-1-pyrroline-5-carboxylate synthase", "disease": [ { "disease_id": "DOID:0070131", "name": "autosomal dominant cutis laxa 3", "description": "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.", "url": "https://disease-ontology.org/term/DOID:0070131", "evidence": [ { "id": "0070131", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070131" } ], "weight": 0.0 }, { "disease_id": "DOID:0070132", "name": "autosomal recessive cutis laxa type IIIA", "description": "A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24.", "url": "https://disease-ontology.org/term/DOID:0070132", "evidence": [ { "id": "0070132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070132" } ], "weight": 0.0 }, { "disease_id": "DOID:0070143", "name": "autosomal recessive cutis laxa type III", "description": "A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract.", "url": "https://disease-ontology.org/term/DOID:0070143", "evidence": [ { "id": "0070143", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070143" } ], "weight": 0.0 }, { "disease_id": "DOID:0110824", "name": "hereditary spastic paraplegia 9A", "description": "A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.", "url": "https://disease-ontology.org/term/DOID:0110824", "evidence": [ { "id": "0110824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110824" } ], "weight": 0.0 }, { "disease_id": "DOID:0110825", "name": "hereditary spastic paraplegia 9B", "description": "A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.", "url": "https://disease-ontology.org/term/DOID:0110825", "evidence": [ { "id": "0110825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110825" } ], "weight": 0.0 }, { "disease_id": "DOID:1283", "name": "enterocele", "description": "A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall.", "url": "https://disease-ontology.org/term/DOID:1283", "evidence": [ { "id": "1283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1283" } ], "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: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: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 } ], "biological_process": [ { "name": "citrulline biosynthetic process", "id": "GO:0019240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019240", "evidence": [ { "database": "UniProtKB", "id": "Q9Z110", "url": "https://www.uniprot.org/uniprotkb/Q9Z110" } ], "pmid": "" }, { "name": "glutamate metabolic process", "id": "GO:0006536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006536", "evidence": [ { "database": "UniProtKB", "id": "Q9Z110", "url": "https://www.uniprot.org/uniprotkb/Q9Z110" } ], "pmid": "" }, { "name": "amino acid biosynthetic process", "id": "GO:0008652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008652", "evidence": [ { "database": "UniProtKB", "id": "Q9Z110", "url": "https://www.uniprot.org/uniprotkb/Q9Z110" } ], "pmid": "" }, { "name": "response to temperature stimulus", "id": "GO:0009266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009266", "evidence": [ { "database": "UniProtKB", "id": "Q9Z110", "url": "https://www.uniprot.org/uniprotkb/Q9Z110" } ], "pmid": "" }, { "name": "L-proline biosynthetic process", "id": "GO:0055129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055129", "evidence": [ { "database": "UniProtKB", "id": "Q9Z110", "url": "https://www.uniprot.org/uniprotkb/Q9Z110" } ], "pmid": "" }, { "name": "ornithine biosynthetic process", "id": "GO:0006592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006592", "evidence": [ { "database": "UniProtKB", "id": "Q9Z110", "url": "https://www.uniprot.org/uniprotkb/Q9Z110" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9Z110", "url": "https://www.uniprot.org/uniprotkb/Q9Z110" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9Z110", "url": "https://www.uniprot.org/uniprotkb/Q9Z110" } ], "pmid": "" }, { "name": "glutamate 5-kinase activity", "id": "GO:0004349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004349", "evidence": [ { "database": "UniProtKB", "id": "Q9Z110", "url": "https://www.uniprot.org/uniprotkb/Q9Z110" } ], "pmid": "" }, { "name": "glutamate-5-semialdehyde dehydrogenase activity", "id": "GO:0004350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004350", "evidence": [ { "database": "UniProtKB", "id": "Q9Z110", "url": "https://www.uniprot.org/uniprotkb/Q9Z110" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "Q9Z110", "url": "https://www.uniprot.org/uniprotkb/Q9Z110" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9Z110", "url": "https://www.uniprot.org/uniprotkb/Q9Z110" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9Z110", "url": "https://www.uniprot.org/uniprotkb/Q9Z110" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9Z110", "url": "https://www.uniprot.org/uniprotkb/Q9Z110" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z110-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Asn204", "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": "RNLNGTLHELLR", "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" } ] } ] }, { "uniprot_canonical_ac": "Q9Z110-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Thr362", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 362, "start_aa": "Thr", "end_pos": 362, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr362", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q9Z110-1" }, { "uniprot_canonical_ac": "P08030-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 180, "chemical_mass": 19724.0, "gene_names": "Aprt;Aprt", "protein_name": "Adenine phosphoribosyltransferase", "disease": [ { "disease_id": "DOID:0060350", "name": "adenine phosphoribosyltransferase deficiency", "description": "A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.", "url": "https://disease-ontology.org/term/DOID:0060350", "evidence": [ { "id": "0060350", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060350" } ], "weight": 0.0 }, { "disease_id": "DOID:1919", "name": "Lesch-Nyhan syndrome", "description": "A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26.", "url": "https://disease-ontology.org/term/DOID:1919", "evidence": [ { "id": "1919", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1919" } ], "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": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ], "pmid": "" } ], "molecular_function": [ { "name": "AMP binding", "id": "GO:0016208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016208", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ], "pmid": "" }, { "name": "adenine binding", "id": "GO:0002055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002055", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ], "pmid": "" }, { "name": "adenine phosphoribosyltransferase activity", "id": "GO:0003999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003999", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ], "pmid": "" } ], "biological_process": [ { "name": "AMP salvage", "id": "GO:0044209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044209", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ], "pmid": "" }, { "name": "IMP salvage", "id": "GO:0032264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032264", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ], "pmid": "" }, { "name": "purine ribonucleoside salvage", "id": "GO:0006166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006166", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ], "pmid": "" }, { "name": "adenine salvage", "id": "GO:0006168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006168", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ], "pmid": "" }, { "name": "grooming behavior", "id": "GO:0007625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007625", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ], "pmid": "" }, { "name": "adenine metabolic process", "id": "GO:0046083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046083", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P08030-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Thr96", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 96, "start_aa": "Thr", "end_pos": 96, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr96", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P08030-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Thr135", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ] } ] }, { "uniprot_canonical_ac": "P08030-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Ser15", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "P08030", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08030" } ] } ] }, { "uniprot_canonical_ac": "P08030-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Ser30", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ] } ] }, { "uniprot_canonical_ac": "P08030-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Tyr60", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ] } ] }, { "uniprot_canonical_ac": "P08030-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Ser66", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P08030", "url": "https://www.uniprot.org/uniprotkb/P08030" } ] } ] }, { "uniprot_canonical_ac": "P08030-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Lys51", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KST->NST).", "chr_id": "8", "chr_pos": "123303288", "evidence": [ { "id": "rs3389020518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020518" } ] } ] } ], "record_id": "P08030-1" }, { "uniprot_canonical_ac": "P70331-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70331", "url": "https://www.uniprot.org/uniprotkb/P70331" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 251, "chemical_mass": 26013.0, "gene_names": "Mdfi;I-mfa;I-mf;Mdfi", "protein_name": "MyoD family inhibitor", "disease": [], "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": "P70331", "url": "https://www.uniprot.org/uniprotkb/P70331" } ], "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": "P70331", "url": "https://www.uniprot.org/uniprotkb/P70331" } ], "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": "P70331", "url": "https://www.uniprot.org/uniprotkb/P70331" } ], "pmid": "" }, { "name": "regulation of Wnt signaling pathway", "id": "GO:0030111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030111", "evidence": [ { "database": "UniProtKB", "id": "P70331", "url": "https://www.uniprot.org/uniprotkb/P70331" } ], "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": "P70331", "url": "https://www.uniprot.org/uniprotkb/P70331" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "P70331", "url": "https://www.uniprot.org/uniprotkb/P70331" } ], "pmid": "" }, { "name": "regulation of JNK cascade", "id": "GO:0046328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046328", "evidence": [ { "database": "UniProtKB", "id": "P70331", "url": "https://www.uniprot.org/uniprotkb/P70331" } ], "pmid": "" }, { "name": "trophoblast giant cell differentiation", "id": "GO:0060707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060707", "evidence": [ { "database": "UniProtKB", "id": "P70331", "url": "https://www.uniprot.org/uniprotkb/P70331" } ], "pmid": "" }, { "name": "dorsal/ventral axis specification", "id": "GO:0009950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009950", "evidence": [ { "database": "UniProtKB", "id": "P70331", "url": "https://www.uniprot.org/uniprotkb/P70331" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P70331", "url": "https://www.uniprot.org/uniprotkb/P70331" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P70331", "url": "https://www.uniprot.org/uniprotkb/P70331" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P70331", "url": "https://www.uniprot.org/uniprotkb/P70331" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P70331", "url": "https://www.uniprot.org/uniprotkb/P70331" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "P70331", "url": "https://www.uniprot.org/uniprotkb/P70331" } ], "pmid": "" }, { "name": "protein sequestering activity", "id": "GO:0140311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140311", "evidence": [ { "database": "UniProtKB", "id": "P70331", "url": "https://www.uniprot.org/uniprotkb/P70331" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P70331-1" }, { "uniprot_canonical_ac": "Q8CGB6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1400, "chemical_mass": 152013.0, "gene_names": "Tns2;C1-ten;Tenc1;Tns2;nep;nph", "protein_name": "Tensin-2", "disease": [ { "disease_id": "DOID:0060852", "name": "Pierson syndrome", "description": "A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21.", "url": "https://disease-ontology.org/term/DOID:0060852", "evidence": [ { "id": "0060852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060852" } ], "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": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" }, { "name": "peptidyl-tyrosine dephosphorylation", "id": "GO:0035335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035335", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "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": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" }, { "name": "cellular homeostasis", "id": "GO:0019725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019725", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" }, { "name": "collagen metabolic process", "id": "GO:0032963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032963", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" }, { "name": "multicellular organismal-level homeostasis", "id": "GO:0048871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048871", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" }, { "name": "protein tyrosine phosphatase activity", "id": "GO:0004725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004725", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" }, { "name": "phosphoprotein phosphatase activity", "id": "GO:0004721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004721", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "1003", "end_pos": "1003", "site_lbl": "Ser1003", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1003, "start_aa": "Ser", "end_pos": 1003, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1003", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q8CGB6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CGB6" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "1008", "end_pos": "1008", "site_lbl": "Thr1008", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1008, "start_aa": "Thr", "end_pos": 1008, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1008", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q8CGB6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CGB6" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8CGB6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "1054", "end_pos": "1054", "site_lbl": "Thr1054", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1054, "start_aa": "Thr", "end_pos": 1054, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1054", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "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": "Q8CGB6-1", "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": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q8CGB6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CGB6" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8CGB6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8CGB6" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SAS->NAS); o-glyco-site-loss (S->N).", "chr_id": "15", "chr_pos": "102020942", "evidence": [ { "id": "rs3389386660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389386660" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "901", "end_pos": "901", "site_lbl": "Ser901", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 901, "start_aa": "Ser", "end_pos": 901, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser901", "evidence": [ { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "Q8CGB6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "902", "end_pos": "902", "site_lbl": "Ser902", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 902, "start_aa": "Ser", "end_pos": 902, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser902", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8CGB6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "905", "end_pos": "905", "site_lbl": "Ser905", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 905, "start_aa": "Ser", "end_pos": 905, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser905", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q8CGB6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CGB6" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8CGB6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "1087", "end_pos": "1087", "site_lbl": "Ser1087", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" }, { "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": "Q8CGB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "1173", "end_pos": "1173", "site_lbl": "Thr1173", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Ser118", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CGB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Ser120", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CGB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "1238", "end_pos": "1238", "site_lbl": "Ser1238", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CGB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Ser455", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CGB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Tyr456", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Ser466", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CGB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Thr474", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Ser481", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CGB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "483", "end_pos": "483", "site_lbl": "Tyr483", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" }, { "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": "Q8CGB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "820", "end_pos": "820", "site_lbl": "Ser820", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "825", "end_pos": "825", "site_lbl": "Ser825", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "830", "end_pos": "830", "site_lbl": "Ser830", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CGB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "832", "end_pos": "832", "site_lbl": "Ser832", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CGB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "835", "end_pos": "835", "site_lbl": "Ser835", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CGB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "909", "end_pos": "909", "site_lbl": "Thr909", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CGB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Thr91", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "931", "end_pos": "931", "site_lbl": "Ser931", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "941", "end_pos": "941", "site_lbl": "Ser941", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CGB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "972", "end_pos": "972", "site_lbl": "Ser972", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "977", "end_pos": "977", "site_lbl": "Thr977", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "991", "end_pos": "991", "site_lbl": "Ser991", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "881", "end_pos": "881", "site_lbl": "Asp881", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "15", "chr_pos": "102020887", "evidence": [ { "id": "rs3389344315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389344315" } ] } ] }, { "uniprot_canonical_ac": "Q8CGB6-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Cys231", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No abnormalities in glomerular morphology.", "evidence": [ { "database": "UniProtKB", "id": "Q8CGB6", "url": "https://www.uniprot.org/uniprotkb/Q8CGB6" }, { "database": "PubMed", "id": "31723089", "url": "https://glygen.org/publication/PubMed/31723089" } ] } ] } ], "record_id": "Q8CGB6-1" }, { "uniprot_canonical_ac": "Q8BKI2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1810, "chemical_mass": 191963.0, "gene_names": "Tnrc6b;2700090M07Rik;A730065C02Rik;D230019K20Rik;Kiaa1093;Tnrc6b", "protein_name": "Trinucleotide repeat-containing gene 6B protein", "disease": [ { "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:13560", "name": "subserous uterine fibroid", "description": "An uterine fibroid that is located adjacent to the outside of the uterus.", "url": "https://disease-ontology.org/term/DOID:13560", "evidence": [ { "id": "13560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13560" } ], "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": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" } ], "pmid": "" } ], "biological_process": [ { "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": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated gene silencing", "id": "GO:0031047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031047", "evidence": [ { "database": "UniProtKB", "id": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" } ], "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": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" } ], "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": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" } ], "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": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1158", "end_pos": "1158", "site_lbl": "Thr1158", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1158, "start_aa": "Thr", "end_pos": 1158, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1158", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8BKI2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1159", "end_pos": "1159", "site_lbl": "Thr1159", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1159, "start_aa": "Thr", "end_pos": 1159, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1159", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8BKI2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1177", "end_pos": "1177", "site_lbl": "Ser1177", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1177, "start_aa": "Ser", "end_pos": 1177, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1177", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8BKI2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1178", "end_pos": "1178", "site_lbl": "Thr1178", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1178, "start_aa": "Thr", "end_pos": 1178, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1178", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8BKI2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1473", "end_pos": "1473", "site_lbl": "Ser1473", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1473, "start_aa": "Ser", "end_pos": 1473, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1473", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8BKI2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BKI2" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1478", "end_pos": "1478", "site_lbl": "Thr1478", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1478, "start_aa": "Thr", "end_pos": 1478, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1478", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1486", "end_pos": "1486", "site_lbl": "Thr1486", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1486, "start_aa": "Thr", "end_pos": 1486, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1486", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8BKI2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1487", "end_pos": "1487", "site_lbl": "Thr1487", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1487, "start_aa": "Thr", "end_pos": 1487, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1487", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8BKI2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1488", "end_pos": "1488", "site_lbl": "Thr1488", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1488, "start_aa": "Thr", "end_pos": 1488, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1488", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8BKI2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1516", "end_pos": "1516", "site_lbl": "Ser1516", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1516, "start_aa": "Ser", "end_pos": 1516, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1516", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8BKI2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BKI2" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1687", "end_pos": "1687", "site_lbl": "Asn1687", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G57776ZS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AQTALHMCVLGNTTILAEFATEDEVSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1687, "start_aa": "Asn", "end_pos": 1687, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1687", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1711", "end_pos": "1711", "site_lbl": "Thr1711", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1711, "start_aa": "Thr", "end_pos": 1711, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1711", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1715", "end_pos": "1715", "site_lbl": "Thr1715", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1715, "start_aa": "Thr", "end_pos": 1715, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1715", "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": "15", "chr_pos": "80813387", "evidence": [ { "id": "rs3551864282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551864282" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Ser304", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 304, "start_aa": "Ser", "end_pos": 304, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser304", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8BKI2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BKI2" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q8BKI2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Ser310", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 310, "start_aa": "Ser", "end_pos": 310, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser310", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8BKI2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BKI2" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q8BKI2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "695", "end_pos": "695", "site_lbl": "Thr695", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 695, "start_aa": "Thr", "end_pos": 695, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr695", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "Q8BKI2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "697", "end_pos": "697", "site_lbl": "Thr697", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 697, "start_aa": "Thr", "end_pos": 697, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr697", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "Q8BKI2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "844", "end_pos": "844", "site_lbl": "Asn844", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01004TH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SPAWNETGR", "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" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NET->IET).", "chr_id": "15", "chr_pos": "80765030", "evidence": [ { "id": "rs3389378169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389378169" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "899", "end_pos": "899", "site_lbl": "Thr899", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 899, "start_aa": "Thr", "end_pos": 899, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr899", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "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": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8BKI2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BKI2" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Ser94", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 94, "start_aa": "Ser", "end_pos": 94, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser94", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8BKI2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BKI2" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1409", "end_pos": "1409", "site_lbl": "Ser1409", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BKI2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1426", "end_pos": "1426", "site_lbl": "Thr1426", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BKI2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1438", "end_pos": "1438", "site_lbl": "Ser1438", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BKI2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1441", "end_pos": "1441", "site_lbl": "Thr1441", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BKI2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1793", "end_pos": "1793", "site_lbl": "Ser1793", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1809", "end_pos": "1809", "site_lbl": "Ser1809", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "913", "end_pos": "913", "site_lbl": "Ser913", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BKI2", "url": "https://www.uniprot.org/uniprotkb/Q8BKI2" } ] } ] }, { "uniprot_canonical_ac": "Q8BKI2-1", "start_pos": "1081", "end_pos": "1081", "site_lbl": "Lys1081", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KCS->NCS).", "chr_id": "15", "chr_pos": "80768583", "evidence": [ { "id": "rs3389344578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389344578" } ] } ] } ], "record_id": "Q8BKI2-1" }, { "uniprot_canonical_ac": "Q9CPQ3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CPQ3", "url": "https://www.uniprot.org/uniprotkb/Q9CPQ3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 142, "chemical_mass": 15537.0, "gene_names": "Tomm22;2310047D01;Tom22;Tomm22", "protein_name": "Mitochondrial import receptor subunit TOM22 homolog", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CPQ3", "url": "https://www.uniprot.org/uniprotkb/Q9CPQ3" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9CPQ3", "url": "https://www.uniprot.org/uniprotkb/Q9CPQ3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9CPQ3", "url": "https://www.uniprot.org/uniprotkb/Q9CPQ3" } ], "pmid": "" }, { "name": "mitochondrial outer membrane translocase complex", "id": "GO:0005742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005742", "evidence": [ { "database": "UniProtKB", "id": "Q9CPQ3", "url": "https://www.uniprot.org/uniprotkb/Q9CPQ3" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9CPQ3", "url": "https://www.uniprot.org/uniprotkb/Q9CPQ3" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9CPQ3", "url": "https://www.uniprot.org/uniprotkb/Q9CPQ3" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9CPQ3", "url": "https://www.uniprot.org/uniprotkb/Q9CPQ3" } ], "pmid": "" }, { "name": "protein targeting to mitochondrion", "id": "GO:0006626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006626", "evidence": [ { "database": "UniProtKB", "id": "Q9CPQ3", "url": "https://www.uniprot.org/uniprotkb/Q9CPQ3" } ], "pmid": "" }, { "name": "protein import into mitochondrial matrix", "id": "GO:0030150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030150", "evidence": [ { "database": "UniProtKB", "id": "Q9CPQ3", "url": "https://www.uniprot.org/uniprotkb/Q9CPQ3" } ], "pmid": "" }, { "name": "protein insertion into mitochondrial membrane", "id": "GO:0051204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051204", "evidence": [ { "database": "UniProtKB", "id": "Q9CPQ3", "url": "https://www.uniprot.org/uniprotkb/Q9CPQ3" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein transmembrane transporter activity", "id": "GO:0008320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008320", "evidence": [ { "database": "UniProtKB", "id": "Q9CPQ3", "url": "https://www.uniprot.org/uniprotkb/Q9CPQ3" } ], "pmid": "" }, { "name": "mitochondrion targeting sequence binding", "id": "GO:0030943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030943", "evidence": [ { "database": "UniProtKB", "id": "Q9CPQ3", "url": "https://www.uniprot.org/uniprotkb/Q9CPQ3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CPQ3-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Ser15", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CPQ3", "url": "https://www.uniprot.org/uniprotkb/Q9CPQ3" } ] } ] }, { "uniprot_canonical_ac": "Q9CPQ3-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Thr43", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CPQ3", "url": "https://www.uniprot.org/uniprotkb/Q9CPQ3" } ] } ] }, { "uniprot_canonical_ac": "Q9CPQ3-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Ser45", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CPQ3", "url": "https://www.uniprot.org/uniprotkb/Q9CPQ3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CPQ3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CPQ3" } ] } ] } ], "record_id": "Q9CPQ3-1" }, { "uniprot_canonical_ac": "Q922S4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 939, "chemical_mass": 105619.0, "gene_names": "Pde2a;CGS-PDE;Pde2a;cGSPDE", "protein_name": "cGMP-dependent 3',5'-cyclic phosphodiesterase", "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 } ], "molecular_function": [ { "name": "TPR domain binding", "id": "GO:0030911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030911", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "phosphate ion binding", "id": "GO:0042301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042301", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "GAF domain binding", "id": "GO:0036004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036004", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "cAMP binding", "id": "GO:0030552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030552", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "cGMP binding", "id": "GO:0030553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030553", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "3',5'-cyclic-GMP phosphodiesterase activity", "id": "GO:0047555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047555", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "3',5'-cyclic-AMP phosphodiesterase activity", "id": "GO:0004115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004115", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "3',5'-cGMP-stimulated cyclic-nucleotide phosphodiesterase activity", "id": "GO:0004118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004118", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" } ], "biological_process": [ { "name": "heart valve development", "id": "GO:0003170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003170", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "establishment of endothelial barrier", "id": "GO:0061028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061028", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "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": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "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": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "negative regulation of vascular permeability", "id": "GO:0043116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043116", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "negative regulation of oxidative phosphorylation", "id": "GO:0090324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090324", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "ventricular septum development", "id": "GO:0003281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003281", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "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": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "regulation of mitochondrion organization", "id": "GO:0010821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010821", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "positive regulation of vascular permeability", "id": "GO:0043117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043117", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "cardiac septum development", "id": "GO:0003279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003279", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "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": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "cAMP catabolic process", "id": "GO:0006198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006198", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "cGMP catabolic process", "id": "GO:0046069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046069", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "cellular response to cGMP", "id": "GO:0071321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071321", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "regulation of nitric oxide mediated signal transduction", "id": "GO:0010749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010749", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "negative regulation of cGMP-mediated signaling", "id": "GO:0010754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010754", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "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": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "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": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "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": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "regulation of intracellular signal transduction", "id": "GO:1902531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902531", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "negative regulation of signal transduction", "id": "GO:0009968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009968", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" } ], "cellular_component": [ { "name": "hippocampal mossy fiber", "id": "GO:0097457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097457", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q922S4-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Asn202", "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": "RPEAVQNTSVDASEDQKDEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 202, "start_aa": "Asn", "end_pos": 202, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn202", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q922S4-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Asn703", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G42788ZD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NLELSNYLEDIEIFALFISCMCHDLDHRGTNNSFQVASK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 703, "start_aa": "Asn", "end_pos": 703, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn703", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q922S4-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Ser116", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922S4", "url": "https://www.uniprot.org/uniprotkb/Q922S4" } ] } ] }, { "uniprot_canonical_ac": "Q922S4-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Asp491", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "7", "chr_pos": "101153892", "evidence": [ { "id": "rs3388931365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388931365" } ] } ] } ], "record_id": "Q922S4-1" }, { "uniprot_canonical_ac": "Q60996-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60996", "url": "https://www.uniprot.org/uniprotkb/Q60996" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 524, "chemical_mass": 60824.0, "gene_names": "Ppp2r5c;2610043M05Rik;2700063L20Rik;D12Bwg0916e;Ppp2r5c", "protein_name": "Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q60996", "url": "https://www.uniprot.org/uniprotkb/Q60996" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q60996", "url": "https://www.uniprot.org/uniprotkb/Q60996" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q60996", "url": "https://www.uniprot.org/uniprotkb/Q60996" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q60996", "url": "https://www.uniprot.org/uniprotkb/Q60996" } ], "pmid": "" }, { "name": "protein phosphatase type 2A complex", "id": "GO:0000159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000159", "evidence": [ { "database": "UniProtKB", "id": "Q60996", "url": "https://www.uniprot.org/uniprotkb/Q60996" } ], "pmid": "" }, { "name": "chromosome, centromeric region", "id": "GO:0000775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000775", "evidence": [ { "database": "UniProtKB", "id": "Q60996", "url": "https://www.uniprot.org/uniprotkb/Q60996" } ], "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": "Q60996", "url": "https://www.uniprot.org/uniprotkb/Q60996" } ], "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": "Q60996", "url": "https://www.uniprot.org/uniprotkb/Q60996" } ], "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": "Q60996", "url": "https://www.uniprot.org/uniprotkb/Q60996" } ], "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": "Q60996", "url": "https://www.uniprot.org/uniprotkb/Q60996" } ], "pmid": "" }, { "name": "meiotic sister chromatid cohesion", "id": "GO:0051177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051177", "evidence": [ { "database": "UniProtKB", "id": "Q60996", "url": "https://www.uniprot.org/uniprotkb/Q60996" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q60996", "url": "https://www.uniprot.org/uniprotkb/Q60996" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein phosphatase regulator activity", "id": "GO:0019888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019888", "evidence": [ { "database": "UniProtKB", "id": "Q60996", "url": "https://www.uniprot.org/uniprotkb/Q60996" } ], "pmid": "" }, { "name": "protein phosphatase activator activity", "id": "GO:0072542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072542", "evidence": [ { "database": "UniProtKB", "id": "Q60996", "url": "https://www.uniprot.org/uniprotkb/Q60996" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q60996-1" }, { "uniprot_canonical_ac": "Q3ULD5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3ULD5", "url": "https://www.uniprot.org/uniprotkb/Q3ULD5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 563, "chemical_mass": 61379.0, "gene_names": "Mccc2;4930552N12Rik;MCCB;Mccc2", "protein_name": "Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial", "disease": [ { "disease_id": "DOID:0080580", "name": "3-methylcrotonyl-CoA carboxylase 2 deficiency", "description": "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13.", "url": "https://disease-ontology.org/term/DOID:0080580", "evidence": [ { "id": "0080580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080580" } ], "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 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q3ULD5", "url": "https://www.uniprot.org/uniprotkb/Q3ULD5" } ], "pmid": "" }, { "name": "methylcrotonoyl-CoA carboxylase activity", "id": "GO:0004485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004485", "evidence": [ { "database": "UniProtKB", "id": "Q3ULD5", "url": "https://www.uniprot.org/uniprotkb/Q3ULD5" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q3ULD5", "url": "https://www.uniprot.org/uniprotkb/Q3ULD5" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q3ULD5", "url": "https://www.uniprot.org/uniprotkb/Q3ULD5" } ], "pmid": "" }, { "name": "methylcrotonoyl-CoA carboxylase complex", "id": "GO:1905202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905202", "evidence": [ { "database": "UniProtKB", "id": "Q3ULD5", "url": "https://www.uniprot.org/uniprotkb/Q3ULD5" } ], "pmid": "" } ], "biological_process": [ { "name": "coenzyme A metabolic process", "id": "GO:0015936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015936", "evidence": [ { "database": "UniProtKB", "id": "Q3ULD5", "url": "https://www.uniprot.org/uniprotkb/Q3ULD5" } ], "pmid": "" }, { "name": "L-leucine catabolic process", "id": "GO:0006552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006552", "evidence": [ { "database": "UniProtKB", "id": "Q3ULD5", "url": "https://www.uniprot.org/uniprotkb/Q3ULD5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3ULD5-1" }, { "uniprot_canonical_ac": "Q7TT18-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1306, "chemical_mass": 138593.0, "gene_names": "Atf7ip;2610204M12Rik;5830415B17Rik;AM;Atf7ip;Mcaf1", "protein_name": "Activating transcription factor 7-interacting protein 1", "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 } ], "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": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ], "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": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ], "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": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ], "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": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "1022", "end_pos": "1022", "site_lbl": "Ser1022", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1022, "start_aa": "Ser", "end_pos": 1022, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1022", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "1031", "end_pos": "1031", "site_lbl": "Thr1031", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1031, "start_aa": "Thr", "end_pos": 1031, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1031", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "1032", "end_pos": "1032", "site_lbl": "Ser1032", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1032, "start_aa": "Ser", "end_pos": 1032, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1032", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "1074", "end_pos": "1074", "site_lbl": "Asn1074", "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": "PLQPILPAPPLQPSGVPTSGPSQATIHVLPTAPTTVNVTHR", "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": "Q7TT18-1", "start_pos": "1101", "end_pos": "1101", "site_lbl": "Thr1101", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1101, "start_aa": "Thr", "end_pos": 1101, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1101", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "6", "chr_pos": "136580378", "evidence": [ { "id": "rs3397498302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397498302" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "1102", "end_pos": "1102", "site_lbl": "Thr1102", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1102, "start_aa": "Thr", "end_pos": 1102, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1102", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "620", "end_pos": "620", "site_lbl": "Thr620", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 620, "start_aa": "Thr", "end_pos": 620, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr620", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "740", "end_pos": "740", "site_lbl": "Ser740", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 740, "start_aa": "Ser", "end_pos": 740, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser740", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "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": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "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": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "753", "end_pos": "753", "site_lbl": "Thr753", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 753, "start_aa": "Thr", "end_pos": 753, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr753", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "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": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "758", "end_pos": "758", "site_lbl": "Ser758", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 758, "start_aa": "Ser", "end_pos": 758, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser758", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "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": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "762", "end_pos": "762", "site_lbl": "Ser762", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 762, "start_aa": "Ser", "end_pos": 762, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser762", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "868", "end_pos": "868", "site_lbl": "Ser868", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 868, "start_aa": "Ser", "end_pos": 868, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser868", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "876", "end_pos": "876", "site_lbl": "Thr876", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 876, "start_aa": "Thr", "end_pos": 876, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr876", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "896", "end_pos": "896", "site_lbl": "Thr896", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 896, "start_aa": "Thr", "end_pos": 896, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr896", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "902", "end_pos": "902", "site_lbl": "Thr902", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 902, "start_aa": "Thr", "end_pos": 902, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr902", "evidence": [ { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "903", "end_pos": "903", "site_lbl": "Thr903", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 903, "start_aa": "Thr", "end_pos": 903, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr903", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "911", "end_pos": "911", "site_lbl": "Thr911", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 911, "start_aa": "Thr", "end_pos": 911, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr911", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "919", "end_pos": "919", "site_lbl": "Thr919", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 919, "start_aa": "Thr", "end_pos": 919, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr919", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "921", "end_pos": "921", "site_lbl": "Thr921", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 921, "start_aa": "Thr", "end_pos": 921, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr921", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "922", "end_pos": "922", "site_lbl": "Ser922", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 922, "start_aa": "Ser", "end_pos": 922, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser922", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "948", "end_pos": "948", "site_lbl": "Ser948", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 948, "start_aa": "Ser", "end_pos": 948, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser948", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "949", "end_pos": "949", "site_lbl": "Thr949", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 949, "start_aa": "Thr", "end_pos": 949, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr949", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "951", "end_pos": "951", "site_lbl": "Ser951", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 951, "start_aa": "Ser", "end_pos": 951, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser951", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "954", "end_pos": "954", "site_lbl": "Ser954", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 954, "start_aa": "Ser", "end_pos": 954, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser954", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "955", "end_pos": "955", "site_lbl": "Ser955", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 955, "start_aa": "Ser", "end_pos": 955, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser955", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q7TT18", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TT18" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "21606357", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21606357" }, { "id": "Q7TT18", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q7TT18" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Ser112", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TT18", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Thr124", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "511", "end_pos": "511", "site_lbl": "Ser511", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "514", "end_pos": "514", "site_lbl": "Ser514", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TT18", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "516", "end_pos": "516", "site_lbl": "Ser516", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TT18", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "533", "end_pos": "533", "site_lbl": "Ser533", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Ser57", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q7TT18", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "593", "end_pos": "593", "site_lbl": "Ser593", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TT18", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "700", "end_pos": "700", "site_lbl": "Ser700", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q7TT18", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "707", "end_pos": "707", "site_lbl": "Ser707", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ] } ] }, { "uniprot_canonical_ac": "Q7TT18-1", "start_pos": "933", "end_pos": "933", "site_lbl": "Ser933", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7TT18", "url": "https://www.uniprot.org/uniprotkb/Q7TT18" } ] } ] } ], "record_id": "Q7TT18-1" }, { "uniprot_canonical_ac": "Q8BRK9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BRK9", "url": "https://www.uniprot.org/uniprotkb/Q8BRK9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1152, "chemical_mass": 130649.0, "gene_names": "Man2a2;1700052O22Rik;4931438M07Rik;MX;Man IIx;Man2a2;Mana2x", "protein_name": "Alpha-mannosidase 2x", "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": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK9", "url": "https://www.uniprot.org/uniprotkb/Q8BRK9" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK9", "url": "https://www.uniprot.org/uniprotkb/Q8BRK9" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK9", "url": "https://www.uniprot.org/uniprotkb/Q8BRK9" } ], "pmid": "" }, { "name": "alpha-mannosidase activity", "id": "GO:0004559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004559", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK9", "url": "https://www.uniprot.org/uniprotkb/Q8BRK9" } ], "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": "Q8BRK9", "url": "https://www.uniprot.org/uniprotkb/Q8BRK9" } ], "pmid": "" }, { "name": "mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity", "id": "GO:0004572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004572", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK9", "url": "https://www.uniprot.org/uniprotkb/Q8BRK9" } ], "pmid": "" }, { "name": "mannosidase activity", "id": "GO:0015923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015923", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK9", "url": "https://www.uniprot.org/uniprotkb/Q8BRK9" } ], "pmid": "" } ], "biological_process": [ { "name": "N-glycan processing", "id": "GO:0006491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006491", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK9", "url": "https://www.uniprot.org/uniprotkb/Q8BRK9" } ], "pmid": "" }, { "name": "mannose metabolic process", "id": "GO:0006013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006013", "evidence": [ { "database": "UniProtKB", "id": "Q8BRK9", "url": "https://www.uniprot.org/uniprotkb/Q8BRK9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "1095", "end_pos": "1095", "site_lbl": "Asn1095", "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": "NLGFNCTTSQGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1095, "start_aa": "Asn", "end_pos": 1095, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1095", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Asn225", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 225, "start_aa": "Asn", "end_pos": 225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn225", "evidence": [ { "id": "Q8BRK9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BRK9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Asn305", "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": "ANLTSMLIQR", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 305, "start_aa": "Asn", "end_pos": 305, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn305", "evidence": [ { "id": "Q8BRK9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BRK9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "1016", "end_pos": "1016", "site_lbl": "His1016", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (HLT->NLT); glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80003062", "evidence": [ { "id": "rs3388921037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388921037" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "1012", "end_pos": "1012", "site_lbl": "Ser1012", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80003074", "evidence": [ { "id": "rs3388921287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388921287" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "1025", "end_pos": "1025", "site_lbl": "Pro1025", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80003035", "evidence": [ { "id": "rs3388899902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388899902" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "1071", "end_pos": "1071", "site_lbl": "Ala1071", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80002769", "evidence": [ { "id": "rs3398198838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398198838" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "1072", "end_pos": "1072", "site_lbl": "Thr1072", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80002766", "evidence": [ { "id": "rs3398212400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398212400" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80002765", "evidence": [ { "id": "rs3388924074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924074" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "1074", "end_pos": "1074", "site_lbl": "Ser1074", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80002760", "evidence": [ { "id": "rs31393243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31393243" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80002760", "evidence": [ { "id": "rs31393243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31393243" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "1127", "end_pos": "1127", "site_lbl": "Pro1127", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80001527", "evidence": [ { "id": "rs3398119578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398119578" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "1145", "end_pos": "1145", "site_lbl": "Ser1145", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80001473", "evidence": [ { "id": "rs32509032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32509032" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Gln114", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80018518", "evidence": [ { "id": "rs3398166577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398166577" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Cys116", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80018510", "evidence": [ { "id": "rs3398137718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398137718" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Leu120", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80018499", "evidence": [ { "id": "rs3398073313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398073313" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Gly122", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80018493", "evidence": [ { "id": "rs3388899929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388899929" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Val216", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80018022", "evidence": [ { "id": "rs3413055756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413055756" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Gly248", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80017537_80017538insACTACCTCAACCATCAC", "evidence": [ { "id": "rs3388914969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388914969" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Ala262", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80017496", "evidence": [ { "id": "rs249518934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249518934" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Arg313", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80017130", "evidence": [ { "id": "rs3388908859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908859" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Met348", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80016770", "evidence": [ { "id": "rs3412824887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412824887" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ala34", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80019373", "evidence": [ { "id": "rs3398166592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398166592" } ] }, { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80009393", "evidence": [ { "id": "rs5528140212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5528140212" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Gln37", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80019362", "evidence": [ { "id": "rs3398166582", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398166582" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Thr392", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80016639", "evidence": [ { "id": "rs3388908878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908878" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Gly39", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80012907", "evidence": [ { "id": "rs260054089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260054089" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Asp501", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80013290_80013291insATT", "evidence": [ { "id": "rs3397379419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397379419" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Ala523", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80013224", "evidence": [ { "id": "rs3398212445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398212445" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Leu525", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80013234_80013235insCGCGTCCTAGAAGCCCACCTGCGGTGGGCTTCTAG", "evidence": [ { "id": "rs3397751959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397751959" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "531", "end_pos": "531", "site_lbl": "Leu531", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80013071", "evidence": [ { "id": "rs3412829877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412829877" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "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: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80012987", "evidence": [ { "id": "rs3388921310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388921310" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "575", "end_pos": "575", "site_lbl": "Thr575", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80012938", "evidence": [ { "id": "rs3388893327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388893327" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "581", "end_pos": "581", "site_lbl": "Val581", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80012921", "evidence": [ { "id": "rs3388893393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388893393" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "613", "end_pos": "613", "site_lbl": "Thr613", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80012674", "evidence": [ { "id": "rs31863536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs31863536" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "628", "end_pos": "628", "site_lbl": "Ser628", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80012418", "evidence": [ { "id": "rs3388924944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924944" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "642", "end_pos": "642", "site_lbl": "Arg642", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80012375", "evidence": [ { "id": "rs3716068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3716068" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "652", "end_pos": "652", "site_lbl": "Val652", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80012202", "evidence": [ { "id": "rs3388912530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388912530" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Asp66", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80018660", "evidence": [ { "id": "rs262613079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262613079" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Arg70", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80018649", "evidence": [ { "id": "rs245636881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245636881" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "723", "end_pos": "723", "site_lbl": "Asp723", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80010823", "evidence": [ { "id": "rs3388893348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388893348" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "731", "end_pos": "731", "site_lbl": "Gln731", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80010798", "evidence": [ { "id": "rs3388921539", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388921539" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Asp73", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80018640", "evidence": [ { "id": "rs3388918143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388918143" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "747", "end_pos": "747", "site_lbl": "Arg747", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80010750", "evidence": [ { "id": "rs3388914929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388914929" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "790", "end_pos": "790", "site_lbl": "Glu790", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80009485", "evidence": [ { "id": "rs3388880215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388880215" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "807", "end_pos": "807", "site_lbl": "Ser807", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80009433", "evidence": [ { "id": "rs3388921475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388921475" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "821", "end_pos": "821", "site_lbl": "Glu821", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80009392", "evidence": [ { "id": "rs3388908774", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908774" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Glu83", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80018609", "evidence": [ { "id": "rs242997782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242997782" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "856", "end_pos": "856", "site_lbl": "Arg856", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80009045", "evidence": [ { "id": "rs3388921510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388921510" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "869", "end_pos": "869", "site_lbl": "Asp869", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80008769", "evidence": [ { "id": "rs3388917973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388917973" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "877", "end_pos": "877", "site_lbl": "Arg877", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80008747", "evidence": [ { "id": "rs3388880269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388880269" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Leu88", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80018595", "evidence": [ { "id": "rs3388912548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388912548" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "906", "end_pos": "906", "site_lbl": "Gln906", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80008660", "evidence": [ { "id": "rs3398134550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398134550" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "936", "end_pos": "936", "site_lbl": "Arg936", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80008044", "evidence": [ { "id": "rs3388917954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388917954" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "973", "end_pos": "973", "site_lbl": "Gly973", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80006170", "evidence": [ { "id": "rs3388914938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388914938" } ] }, { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80006170", "evidence": [ { "id": "rs3388914938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388914938" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "988", "end_pos": "988", "site_lbl": "Leu988", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80006124", "evidence": [ { "id": "rs3388921080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388921080" } ] } ] }, { "uniprot_canonical_ac": "Q8BRK9-1", "start_pos": "999", "end_pos": "999", "site_lbl": "Glu999", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80006090", "evidence": [ { "id": "rs3388899886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388899886" } ] }, { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "80006091", "evidence": [ { "id": "rs3388908871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908871" } ] } ] } ], "record_id": "Q8BRK9-1" }, { "uniprot_canonical_ac": "A2AGH6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2190, "chemical_mass": 244561.0, "gene_names": "Med12;230kDa;Kiaa0192;Med12;Mopa;OPA-1;Tnrc11;Trap230", "protein_name": "Mediator of RNA polymerase II transcription subunit 12", "disease": [ { "disease_id": "DOID:0080985", "name": "syndromic X-linked intellectual disorder Lujan-Fryns-type", "description": "A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype.", "url": "https://disease-ontology.org/term/DOID:0080985", "evidence": [ { "id": "0080985", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080985" } ], "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: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 }, { "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:591", "name": "phobic disorder", "description": "An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation.", "url": "https://disease-ontology.org/term/DOID:591", "evidence": [ { "id": "591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:591" } ], "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 transcription initiation by RNA polymerase II", "id": "GO:0060261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "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": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "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": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "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": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "oligodendrocyte development", "id": "GO:0014003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014003", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "embryonic brain development", "id": "GO:1990403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990403", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "Schwann cell development", "id": "GO:0014044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014044", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "embryonic neurocranium morphogenesis", "id": "GO:0048702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048702", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "post-anal tail morphogenesis", "id": "GO:0036342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036342", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "axis elongation involved in somitogenesis", "id": "GO:0090245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090245", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "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": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "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": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "nuclear thyroid hormone receptor binding", "id": "GO:0046966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046966", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "mediator complex", "id": "GO:0016592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016592", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" }, { "name": "CKM complex", "id": "GO:1990508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990508", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2AGH6-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Thr342", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 342, "start_aa": "Thr", "end_pos": 342, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr342", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A2AGH6-1", "start_pos": "1259", "end_pos": "1259", "site_lbl": "Ser1259", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ] } ] }, { "uniprot_canonical_ac": "A2AGH6-1", "start_pos": "1270", "end_pos": "1270", "site_lbl": "Ser1270", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ] } ] }, { "uniprot_canonical_ac": "A2AGH6-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Tyr166", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ] } ] }, { "uniprot_canonical_ac": "A2AGH6-1", "start_pos": "636", "end_pos": "636", "site_lbl": "Ser636", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AGH6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AGH6" } ] } ] }, { "uniprot_canonical_ac": "A2AGH6-1", "start_pos": "666", "end_pos": "666", "site_lbl": "Ser666", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ] } ] }, { "uniprot_canonical_ac": "A2AGH6-1", "start_pos": "699", "end_pos": "699", "site_lbl": "Ser699", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ] } ] }, { "uniprot_canonical_ac": "A2AGH6-1", "start_pos": "701", "end_pos": "701", "site_lbl": "Ser701", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AGH6", "url": "https://www.uniprot.org/uniprotkb/A2AGH6" } ] } ] } ], "record_id": "A2AGH6-1" }, { "uniprot_canonical_ac": "P04370-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 250, "chemical_mass": 27168.0, "gene_names": "Mbp;Hmbpr;Mbp;Shi;golli-mbp;jve;mld;shi", "protein_name": "Myelin basic protein", "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:13088", "name": "periventricular leukomalacia", "description": "", "url": "https://disease-ontology.org/term/DOID:13088", "evidence": [ { "id": "13088", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13088" } ], "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: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: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: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: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 }, { "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 } ], "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": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" } ], "cellular_component": [ { "name": "internode region of axon", "id": "GO:0033269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033269", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "compact myelin", "id": "GO:0043218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043218", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" } ], "biological_process": [ { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "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": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "membrane organization", "id": "GO:0061024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061024", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "negative regulation of heterotypic cell-cell adhesion", "id": "GO:0034115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034115", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "negative regulation of axonogenesis", "id": "GO:0050771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050771", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "myelin assembly", "id": "GO:0032288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032288", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" }, { "name": "maintenance of blood-brain barrier", "id": "GO:0035633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035633", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "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": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P04370-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Ser151", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 151, "start_aa": "Ser", "end_pos": 151, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser151", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P04370", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P04370" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P04370", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04370" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Thr152", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 152, "start_aa": "Thr", "end_pos": 152, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr152", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P04370", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P04370" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Ser172", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 172, "start_aa": "Ser", "end_pos": 172, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser172", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P04370", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P04370" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "15648052", "url": "https://glygen.org/publication/PubMed/15648052" }, { "database": "iPTMnet", "id": "P04370", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "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": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "P04370", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04370" }, { "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": "P04370-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Thr197", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 197, "start_aa": "Thr", "end_pos": 197, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr197", "evidence": [ { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "P04370", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04370" }, { "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": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P04370", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P04370" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P04370", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "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": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "P04370", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04370" }, { "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": "P04370", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P04370" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Thr211", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 211, "start_aa": "Thr", "end_pos": 211, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr211", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P04370", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P04370" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P04370", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "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": "GNHSGKR", "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": "P04370-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Asn55", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G64409MC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LSQTASEDSDVFGEADAIQNNGTSAEDTAVTDSK", "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": "P04370-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Thr125", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" }, { "database": "iPTMnet", "id": "P04370", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04370" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Ser141", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Ser144", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P04370", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Tyr146", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Thr149", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Thr167", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" }, { "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": "P04370", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Ser188", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Tyr199", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "P04370", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Ser206", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P04370", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Thr226", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Thr229", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" }, { "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": "P04370", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Ser241", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Ser245", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Ser31", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P04370", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ser40", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P04370", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04370" } ] } ] }, { "uniprot_canonical_ac": "P04370-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Ser96", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04370", "url": "https://www.uniprot.org/uniprotkb/P04370" }, { "database": "iPTMnet", "id": "P04370", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04370" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" } ] } ] } ], "record_id": "P04370-1" }, { "uniprot_canonical_ac": "P61750-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 180, "chemical_mass": 20397.0, "gene_names": "Arf4;Arf4", "protein_name": "ADP-ribosylation factor 4", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "epidermal growth factor receptor binding", "id": "GO:0005154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005154", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "phospholipase D activator activity", "id": "GO:1990583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990583", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "NAD+-protein-arginine ADP-ribosyltransferase activity", "id": "GO:0106274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106274", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "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": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "dendritic spine development", "id": "GO:0060996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060996", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "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": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "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": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "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": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "protein localization to cilium", "id": "GO:0061512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061512", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "regulation of cilium assembly", "id": "GO:1902017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902017", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "regulation of synapse organization", "id": "GO:0050807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050807", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "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": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "apical protein localization", "id": "GO:0045176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045176", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" }, { "name": "regulation of postsynapse organization", "id": "GO:0099175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099175", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P61750-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Ser147", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P61750", "url": "https://www.uniprot.org/uniprotkb/P61750" } ] } ] } ], "record_id": "P61750-1" }, { "uniprot_canonical_ac": "Q9CXJ4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CXJ4", "url": "https://www.uniprot.org/uniprotkb/Q9CXJ4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 717, "chemical_mass": 78000.0, "gene_names": "Abcb8;4833412N02Rik;Abcb8;MITOSUR;Mitosur", "protein_name": "Mitochondrial potassium channel ATP-binding subunit", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9CXJ4", "url": "https://www.uniprot.org/uniprotkb/Q9CXJ4" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q9CXJ4", "url": "https://www.uniprot.org/uniprotkb/Q9CXJ4" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9CXJ4", "url": "https://www.uniprot.org/uniprotkb/Q9CXJ4" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q9CXJ4", "url": "https://www.uniprot.org/uniprotkb/Q9CXJ4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CXJ4", "url": "https://www.uniprot.org/uniprotkb/Q9CXJ4" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9CXJ4", "url": "https://www.uniprot.org/uniprotkb/Q9CXJ4" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9CXJ4", "url": "https://www.uniprot.org/uniprotkb/Q9CXJ4" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9CXJ4", "url": "https://www.uniprot.org/uniprotkb/Q9CXJ4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9CXJ4", "url": "https://www.uniprot.org/uniprotkb/Q9CXJ4" } ], "pmid": "" }, { "name": "mitochondrial ATP-gated potassium channel complex", "id": "GO:0062157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062157", "evidence": [ { "database": "UniProtKB", "id": "Q9CXJ4", "url": "https://www.uniprot.org/uniprotkb/Q9CXJ4" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9CXJ4", "url": "https://www.uniprot.org/uniprotkb/Q9CXJ4" } ], "pmid": "" }, { "name": "cell volume homeostasis", "id": "GO:0006884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006884", "evidence": [ { "database": "UniProtKB", "id": "Q9CXJ4", "url": "https://www.uniprot.org/uniprotkb/Q9CXJ4" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "Q9CXJ4", "url": "https://www.uniprot.org/uniprotkb/Q9CXJ4" } ], "pmid": "" }, { "name": "mitochondrial potassium ion transmembrane transport", "id": "GO:0140141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140141", "evidence": [ { "database": "UniProtKB", "id": "Q9CXJ4", "url": "https://www.uniprot.org/uniprotkb/Q9CXJ4" } ], "pmid": "" }, { "name": "monoatomic ion transport", "id": "GO:0006811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "evidence": [ { "database": "UniProtKB", "id": "Q9CXJ4", "url": "https://www.uniprot.org/uniprotkb/Q9CXJ4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CXJ4-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Ser512", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 512, "start_aa": "Ser", "end_pos": 512, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser512", "evidence": [ { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "Q9CXJ4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9CXJ4" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" } ] } ] } ], "record_id": "Q9CXJ4-1" }, { "uniprot_canonical_ac": "Q9WVS6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 464, "chemical_mass": 51618.0, "gene_names": "Prkn;Park2;Prkn", "protein_name": "E3 ubiquitin-protein ligase parkin", "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 }, { "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:0060368", "name": "Parkinson's disease 2", "description": "An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27.", "url": "https://disease-ontology.org/term/DOID:0060368", "evidence": [ { "id": "0060368", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060368" } ], "weight": 0.0 }, { "disease_id": "DOID:0060369", "name": "Parkinson's disease 6", "description": "An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12.", "url": "https://disease-ontology.org/term/DOID:0060369", "evidence": [ { "id": "0060369", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060369" } ], "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: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: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: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: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: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: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 reactive oxygen species biosynthetic process", "id": "GO:1903427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903427", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of dendrite extension", "id": "GO:1903861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903861", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial fusion", "id": "GO:0010636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010636", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "startle response", "id": "GO:0001964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001964", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "response to curcumin", "id": "GO:1904643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904643", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein localization to mitochondrion", "id": "GO:0070585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070585", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of mitophagy", "id": "GO:1901526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901526", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "neuron cellular homeostasis", "id": "GO:0070050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070050", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "synaptic transmission, dopaminergic", "id": "GO:0001963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001963", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane potential", "id": "GO:0051881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051881", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of insulin secretion", "id": "GO:0046676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046676", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of neurotransmitter secretion", "id": "GO:0046928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046928", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "cellular response to toxic substance", "id": "GO:0097237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097237", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of dopamine metabolic process", "id": "GO:0042053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042053", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "dopamine metabolic process", "id": "GO:0042417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042417", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein K11-linked ubiquitination", "id": "GO:0070979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070979", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "norepinephrine metabolic process", "id": "GO:0042415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042415", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "autophagy of mitochondrion", "id": "GO:0000422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000422", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "mitochondrial fragmentation involved in apoptotic process", "id": "GO:0043653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043653", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of mitochondrion organization", "id": "GO:0010821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010821", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "cellular response to manganese ion", "id": "GO:0071287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071287", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "mitochondrion localization", "id": "GO:0051646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051646", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "mitochondrial fission", "id": "GO:0000266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000266", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "cellular response to L-glutamine", "id": "GO:1904845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904845", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903382", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial fission", "id": "GO:0090258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090258", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "mitochondrion to lysosome vesicle-mediated transport", "id": "GO:0099074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099074", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "free ubiquitin chain polymerization", "id": "GO:0010994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010994", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of actin filament bundle assembly", "id": "GO:0032232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032232", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein K27-linked ubiquitination", "id": "GO:0044314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044314", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of neurotransmitter uptake", "id": "GO:0051582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051582", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of protein linear polyubiquitination", "id": "GO:1902530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902530", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of exosomal secretion", "id": "GO:1903542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903542", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of intralumenal vesicle formation", "id": "GO:1905366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905366", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein K6-linked ubiquitination", "id": "GO:0085020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085020", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "cellular response to L-glutamate", "id": "GO:1905232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905232", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial fusion", "id": "GO:0010637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010637", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial fission", "id": "GO:0090141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090141", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle endocytosis", "id": "GO:1900242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900242", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of protein ubiquitination", "id": "GO:0031396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031396", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of spontaneous neurotransmitter secretion", "id": "GO:1904049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904049", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein monoubiquitination", "id": "GO:0006513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006513", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of proteasomal protein catabolic process", "id": "GO:1901800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901800", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of excitatory postsynaptic potential", "id": "GO:0090394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090394", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "host-mediated suppression of viral genome replication", "id": "GO:0044828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044828", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "negative regulation of glucokinase activity", "id": "GO:0033132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033132", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "dopamine uptake involved in synaptic transmission", "id": "GO:0051583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051583", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "type 2 mitophagy", "id": "GO:0061734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061734", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "aggresome assembly", "id": "GO:0070842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070842", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of protein localization to membrane", "id": "GO:1905477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905477", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "cellular response to hydrogen sulfide", "id": "GO:1904881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904881", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "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": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "response to stress", "id": "GO:0006950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006950", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "regulation of anatomical structure morphogenesis", "id": "GO:0022603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022603", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "positive regulation of catabolic process", "id": "GO:0009896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009896", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "Parkin-FBXW7-Cul1 ubiquitin ligase complex", "id": "GO:1990452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990452", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "intracellular vesicle", "id": "GO:0097708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097708", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "mitochondrion-derived vesicle", "id": "GO:0099073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099073", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "dopaminergic synapse", "id": "GO:0098691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098691", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "aggresome", "id": "GO:0016235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016235", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "cullin family protein binding", "id": "GO:0097602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097602", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme binding", "id": "GO:0031624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031624", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "ubiquitin-specific protease binding", "id": "GO:1990381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990381", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "ubiquitin binding", "id": "GO:0043130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043130", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "phospholipase binding", "id": "GO:0043274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043274", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "Hsp70 protein binding", "id": "GO:0030544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030544", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" }, { "name": "F-box domain binding", "id": "GO:1990444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990444", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WVS6-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Thr174", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ] } ] }, { "uniprot_canonical_ac": "Q9WVS6-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Thr216", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" } ] } ] }, { "uniprot_canonical_ac": "Q9WVS6-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" }, { "database": "IntAct", "id": "Q9WVS6", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9WVS6*" }, { "database": "iPTMnet", "id": "Q9WVS6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVS6" }, { "database": "PubMed", "id": "29899409", "url": "https://glygen.org/publication/PubMed/29899409" }, { "database": "PubMed", "id": "35145192", "url": "https://glygen.org/publication/PubMed/35145192" } ] } ] }, { "uniprot_canonical_ac": "Q9WVS6-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Thr80", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVS6", "url": "https://www.uniprot.org/uniprotkb/Q9WVS6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WVS6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVS6" } ] } ] } ], "record_id": "Q9WVS6-1" }, { "uniprot_canonical_ac": "Q99LJ2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99LJ2", "url": "https://www.uniprot.org/uniprotkb/Q99LJ2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 478, "chemical_mass": 54058.0, "gene_names": "Abtb1;Abtb1;BPOZ;Bpoz;EF1ABP", "protein_name": "Ankyrin repeat and BTB/POZ domain-containing protein 1", "disease": [], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q99LJ2", "url": "https://www.uniprot.org/uniprotkb/Q99LJ2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99LJ2", "url": "https://www.uniprot.org/uniprotkb/Q99LJ2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99LJ2", "url": "https://www.uniprot.org/uniprotkb/Q99LJ2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99LJ2", "url": "https://www.uniprot.org/uniprotkb/Q99LJ2" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q99LJ2", "url": "https://www.uniprot.org/uniprotkb/Q99LJ2" } ], "pmid": "" } ], "molecular_function": [ { "name": "translation elongation factor activity", "id": "GO:0003746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003746", "evidence": [ { "database": "UniProtKB", "id": "Q99LJ2", "url": "https://www.uniprot.org/uniprotkb/Q99LJ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q99LJ2-1" }, { "uniprot_canonical_ac": "O88746-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 492, "chemical_mass": 54325.0, "gene_names": "Tom1;Tom1", "protein_name": "Target of Myb1 membrane trafficking protein", "disease": [ { "disease_id": "DOID:0061055", "name": "immunodeficiency 85", "description": "A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12.", "url": "https://disease-ontology.org/term/DOID:0061055", "evidence": [ { "id": "0061055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061055" } ], "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": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "polyubiquitin modification-dependent protein binding", "id": "GO:0031593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031593", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "ubiquitin binding", "id": "GO:0043130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043130", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "myosin VI binding", "id": "GO:0070853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070853", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "clathrin heavy chain binding", "id": "GO:0032050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032050", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "positive regulation of autophagosome maturation", "id": "GO:1901098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901098", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "regulation of endosome organization", "id": "GO:1904978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904978", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "substrate localization to autophagosome", "id": "GO:0061753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061753", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" }, { "name": "autophagosome-lysosome fusion", "id": "GO:0061909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061909", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88746-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Thr200", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 200, "start_aa": "Thr", "end_pos": 200, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr200", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O88746-1", "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": "O88746-1", "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": "O88746-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Thr391", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 391, "start_aa": "Thr", "end_pos": 391, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr391", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "O88746", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O88746" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "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": "O88746", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O88746" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "O88746-1", "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": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "O88746", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O88746" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "O88746", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O88746" }, { "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": "O88746-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ] } ] }, { "uniprot_canonical_ac": "O88746-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Ser160", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88746", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88746" } ] } ] }, { "uniprot_canonical_ac": "O88746-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Thr164", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88746", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88746" } ] } ] }, { "uniprot_canonical_ac": "O88746-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Ser176", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" }, { "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": "O88746", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88746" } ] } ] }, { "uniprot_canonical_ac": "O88746-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Ser180", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88746", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88746" } ] } ] }, { "uniprot_canonical_ac": "O88746-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Ser208", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88746", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88746" } ] } ] }, { "uniprot_canonical_ac": "O88746-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Ser355", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ] } ] }, { "uniprot_canonical_ac": "O88746-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Ser376", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ] } ] }, { "uniprot_canonical_ac": "O88746-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Ser462", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88746", "url": "https://www.uniprot.org/uniprotkb/O88746" } ] } ] } ], "record_id": "O88746-1" }, { "uniprot_canonical_ac": "Q8C052-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 973, "chemical_mass": 102939.0, "gene_names": "Map1s;6430517J16Rik;Bpy2ip1;Map1s;Map8;Mtap1s;VCY2IP1", "protein_name": "Microtubule-associated protein 1S", "disease": [], "biological_process": [ { "name": "metaphase chromosome alignment", "id": "GO:0051310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051310", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "mitotic spindle organization", "id": "GO:0007052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007052", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "microtubule anchoring at centrosome", "id": "GO:0034454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034454", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "microtubule bundle formation", "id": "GO:0001578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001578", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "regulation of microtubule depolymerization", "id": "GO:0031114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031114", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "WD40-repeat domain binding", "id": "GO:0071987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071987", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "microtubule associated complex", "id": "GO:0005875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005875", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" }, { "name": "mitotic spindle microtubule", "id": "GO:1990498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990498", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C052-1", "start_pos": "581", "end_pos": "581", "site_lbl": "Thr581", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 581, "start_aa": "Thr", "end_pos": 581, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr581", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8C052-1", "start_pos": "740", "end_pos": "740", "site_lbl": "Thr740", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 740, "start_aa": "Thr", "end_pos": 740, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr740", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8C052-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Ser462", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C052", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C052" } ] } ] }, { "uniprot_canonical_ac": "Q8C052-1", "start_pos": "586", "end_pos": "586", "site_lbl": "Ser586", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ] } ] }, { "uniprot_canonical_ac": "Q8C052-1", "start_pos": "591", "end_pos": "591", "site_lbl": "Ser591", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ] } ] }, { "uniprot_canonical_ac": "Q8C052-1", "start_pos": "593", "end_pos": "593", "site_lbl": "Ser593", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ] } ] }, { "uniprot_canonical_ac": "Q8C052-1", "start_pos": "660", "end_pos": "660", "site_lbl": "Ser660", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C052", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C052" } ] } ] }, { "uniprot_canonical_ac": "Q8C052-1", "start_pos": "684", "end_pos": "684", "site_lbl": "Ser684", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" } ] } ] }, { "uniprot_canonical_ac": "Q8C052-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Ser724", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C052", "url": "https://www.uniprot.org/uniprotkb/Q8C052" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C052", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C052" } ] } ] }, { "uniprot_canonical_ac": "Q8C052-1", "start_pos": "786", "end_pos": "786", "site_lbl": "Ser786", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q8C052", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C052" }, { "database": "PubMed", "id": "30266824", "url": "https://glygen.org/publication/PubMed/30266824" } ] } ] }, { "uniprot_canonical_ac": "Q8C052-1", "start_pos": "812", "end_pos": "812", "site_lbl": "Ser812", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q8C052", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C052" }, { "database": "PubMed", "id": "30266824", "url": "https://glygen.org/publication/PubMed/30266824" } ] } ] } ], "record_id": "Q8C052-1" }, { "uniprot_canonical_ac": "Q6P5G3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 631, "chemical_mass": 70669.0, "gene_names": "Mbtd1;Mbtd1;hemp", "protein_name": "MBT domain-containing protein 1", "disease": [], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "pmid": "" }, { "name": "NuA4 histone acetyltransferase complex binding", "id": "GO:0062060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062060", "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "pmid": "" }, { "name": "histone H4K20me2 reader activity", "id": "GO:0140005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140005", "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "pmid": "" }, { "name": "histone H4K20me1 reader activity", "id": "GO:0140117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140117", "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "pmid": "" }, { "name": "NuA4 histone acetyltransferase complex", "id": "GO:0035267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035267", "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "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": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "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": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "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": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "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": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "pmid": "" }, { "name": "embryonic skeletal system development", "id": "GO:0048706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "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": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "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": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q6P5G3", "url": "https://www.uniprot.org/uniprotkb/Q6P5G3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6P5G3-1" }, { "uniprot_canonical_ac": "Q8CA95-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 790, "chemical_mass": 89408.0, "gene_names": "Pde10a;Pde10a", "protein_name": "cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A", "disease": [ { "disease_id": "DOID:0060998", "name": "striatal degeneration 2", "description": "A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that has_material_basis_in heterozygous mutation in the PDE10A gene on chromosome 6q27.", "url": "https://disease-ontology.org/term/DOID:0060998", "evidence": [ { "id": "0060998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060998" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "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": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" }, { "name": "cAMP catabolic process", "id": "GO:0006198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006198", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" }, { "name": "cGMP catabolic process", "id": "GO:0046069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046069", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" }, { "name": "negative regulation of cGMP-mediated signaling", "id": "GO:0010754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010754", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" }, { "name": "regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0106070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106070", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "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": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" }, { "name": "regulation of cAMP/PKA signal transduction", "id": "GO:0141161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141161", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" }, { "name": "cAMP binding", "id": "GO:0030552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030552", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" }, { "name": "cGMP binding", "id": "GO:0030553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030553", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" }, { "name": "3',5'-cyclic-GMP phosphodiesterase activity", "id": "GO:0047555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047555", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" }, { "name": "3',5'-cyclic-nucleotide phosphodiesterase activity", "id": "GO:0004114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004114", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" }, { "name": "cyclic-nucleotide phosphodiesterase activity", "id": "GO:0004112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004112", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" }, { "name": "3',5'-cyclic-AMP phosphodiesterase activity", "id": "GO:0004115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004115", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" }, { "name": "3',5'-cGMP-stimulated cyclic-nucleotide phosphodiesterase activity", "id": "GO:0004118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004118", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CA95-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Thr526", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 526, "start_aa": "Thr", "end_pos": 526, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr526", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8CA95-1", "start_pos": "652", "end_pos": "652", "site_lbl": "Asn652", "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": "KQLEEMYQTGSLNLHNQSHR", "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" } ] } ] }, { "uniprot_canonical_ac": "Q8CA95-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Tyr101", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Decreased protein abundance; decreased 3',5'-cyclic-nucleotide phosphodiesterase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8CA95", "url": "https://www.uniprot.org/uniprotkb/Q8CA95" }, { "database": "PubMed", "id": "27058446", "url": "https://glygen.org/publication/PubMed/27058446" } ] } ] } ], "record_id": "Q8CA95-1" }, { "uniprot_canonical_ac": "O70137-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70137", "url": "https://www.uniprot.org/uniprotkb/O70137" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 343, "chemical_mass": 36851.0, "gene_names": "Alx3;Alx3", "protein_name": "Homeobox protein aristaless-like 3", "disease": [ { "disease_id": "DOID:0081045", "name": "frontonasal dysplasia 1", "description": "A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13.", "url": "https://disease-ontology.org/term/DOID:0081045", "evidence": [ { "id": "0081045", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081045" } ], "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": "O70137", "url": "https://www.uniprot.org/uniprotkb/O70137" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "O70137", "url": "https://www.uniprot.org/uniprotkb/O70137" } ], "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": "O70137", "url": "https://www.uniprot.org/uniprotkb/O70137" } ], "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": "O70137", "url": "https://www.uniprot.org/uniprotkb/O70137" } ], "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": "O70137", "url": "https://www.uniprot.org/uniprotkb/O70137" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O70137", "url": "https://www.uniprot.org/uniprotkb/O70137" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O70137", "url": "https://www.uniprot.org/uniprotkb/O70137" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O70137", "url": "https://www.uniprot.org/uniprotkb/O70137" } ], "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": "O70137", "url": "https://www.uniprot.org/uniprotkb/O70137" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O70137", "url": "https://www.uniprot.org/uniprotkb/O70137" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "O70137", "url": "https://www.uniprot.org/uniprotkb/O70137" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "O70137", "url": "https://www.uniprot.org/uniprotkb/O70137" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "O70137", "url": "https://www.uniprot.org/uniprotkb/O70137" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "O70137", "url": "https://www.uniprot.org/uniprotkb/O70137" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "O70137", "url": "https://www.uniprot.org/uniprotkb/O70137" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "O70137", "url": "https://www.uniprot.org/uniprotkb/O70137" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O70137-1" }, { "uniprot_canonical_ac": "Q80YE4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1365, "chemical_mass": 144607.0, "gene_names": "Aatk;AATYK;Aatk;Aatyk;Kiaa0641;Lmr1;Lmtk1;aatyk1;mKIAA0641", "protein_name": "Serine/threonine-protein kinase LMTK1", "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": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" } ], "biological_process": [ { "name": "peptidyl-tyrosine autophosphorylation", "id": "GO:0038083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038083", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80YE4-1", "start_pos": "1320", "end_pos": "1320", "site_lbl": "Thr1320", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1320, "start_aa": "Thr", "end_pos": 1320, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1320", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80YE4-1", "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": "Q80YE4-1", "start_pos": "682", "end_pos": "682", "site_lbl": "Asn682", "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": "VGLAAQCGHWSSNMSANNNSASR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 682, "start_aa": "Asn", "end_pos": 682, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn682", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q80YE4-1", "start_pos": "832", "end_pos": "832", "site_lbl": "Thr832", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 832, "start_aa": "Thr", "end_pos": 832, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr832", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80YE4-1", "start_pos": "1035", "end_pos": "1035", "site_lbl": "Ser1035", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YE4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YE4" } ] } ] }, { "uniprot_canonical_ac": "Q80YE4-1", "start_pos": "1156", "end_pos": "1156", "site_lbl": "Thr1156", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YE4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YE4" } ] } ] }, { "uniprot_canonical_ac": "Q80YE4-1", "start_pos": "1159", "end_pos": "1159", "site_lbl": "Ser1159", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YE4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YE4" } ] } ] }, { "uniprot_canonical_ac": "Q80YE4-1", "start_pos": "1162", "end_pos": "1162", "site_lbl": "Ser1162", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YE4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YE4" } ] } ] }, { "uniprot_canonical_ac": "Q80YE4-1", "start_pos": "1175", "end_pos": "1175", "site_lbl": "Ser1175", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YE4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YE4" } ] } ] }, { "uniprot_canonical_ac": "Q80YE4-1", "start_pos": "1178", "end_pos": "1178", "site_lbl": "Ser1178", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YE4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YE4" } ] } ] }, { "uniprot_canonical_ac": "Q80YE4-1", "start_pos": "1253", "end_pos": "1253", "site_lbl": "Ser1253", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ] } ] }, { "uniprot_canonical_ac": "Q80YE4-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Ser500", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" } ] } ] }, { "uniprot_canonical_ac": "Q80YE4-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Asp254", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Significant decrease in autophosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "Q80YE4", "url": "https://www.uniprot.org/uniprotkb/Q80YE4" }, { "database": "PubMed", "id": "17651901", "url": "https://glygen.org/publication/PubMed/17651901" }, { "database": "PubMed", "id": "11314040", "url": "https://glygen.org/publication/PubMed/11314040" } ] } ] } ], "record_id": "Q80YE4-1" }, { "uniprot_canonical_ac": "Q32MD9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1250, "chemical_mass": 135422.0, "gene_names": "Cdon;CDO;Cd0;Cdon;Cdo;Orcam", "protein_name": "Cell adhesion molecule-related/down-regulated by oncogenes", "disease": [ { "disease_id": "DOID:0110877", "name": "holoprosencephaly 11", "description": "A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24.", "url": "https://disease-ontology.org/term/DOID:0110877", "evidence": [ { "id": "0110877", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110877" } ], "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": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "embryonic body morphogenesis", "id": "GO:0010172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010172", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "skeletal muscle satellite cell differentiation", "id": "GO:0014816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014816", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "regulation of striated muscle tissue development", "id": "GO:0016202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016202", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "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": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "embryonic retina morphogenesis in camera-type eye", "id": "GO:0060059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060059", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "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": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "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": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "embryonic morphogenesis", "id": "GO:0048598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048598", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "myoblast fusion", "id": "GO:0007520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007520", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "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": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "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": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "striated muscle cell differentiation", "id": "GO:0051146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051146", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "cellular response to vitamin D", "id": "GO:0071305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071305", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "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": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "negative regulation of biomineral tissue development", "id": "GO:0070168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070168", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" } ], "molecular_function": [ { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "Q32MD9", "url": "https://www.uniprot.org/uniprotkb/Q32MD9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q32MD9-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Asn179", "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": "HSTGNYIILPSGNLQVLNVSSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "Q32MD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q32MD9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q32MD9-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Asn286", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G38473TJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LYSHLATASIDPADSGNYSCVVGNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 286, "start_aa": "Asn", "end_pos": 286, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn286", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 286, "start_aa": "Asn", "end_pos": 286, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn286", "evidence": [ { "id": "Q32MD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q32MD9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q32MD9-1", "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": "Q32MD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q32MD9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q32MD9-1", "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": "Q32MD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q32MD9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q32MD9-1", "start_pos": "426", "end_pos": "426", "site_lbl": "Asn426", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 426, "start_aa": "Asn", "end_pos": 426, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn426", "evidence": [ { "id": "Q32MD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q32MD9#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAT->IAT).", "chr_id": "9", "chr_pos": "35375252", "evidence": [ { "id": "rs3389038368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389038368" } ] } ] }, { "uniprot_canonical_ac": "Q32MD9-1", "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": "Q32MD9-1", "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": "Q32MD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q32MD9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q32MD9-1", "start_pos": "869", "end_pos": "869", "site_lbl": "Asn869", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 869, "start_aa": "Asn", "end_pos": 869, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn869", "evidence": [ { "id": "Q32MD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q32MD9#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDS->DDS).", "chr_id": "9", "chr_pos": "35389952", "evidence": [ { "id": "rs3389030559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389030559" } ] } ] }, { "uniprot_canonical_ac": "Q32MD9-1", "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": "Q32MD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q32MD9#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NNS->TNS).", "chr_id": "9", "chr_pos": "35364179", "evidence": [ { "id": "rs3400098953", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400098953" } ] } ] }, { "uniprot_canonical_ac": "Q32MD9-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Ser181", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVS->NVY).", "chr_id": "9", "chr_pos": "35366667", "evidence": [ { "id": "rs3389001235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389001235" } ] } ] } ], "record_id": "Q32MD9-1" }, { "uniprot_canonical_ac": "Q61091-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 685, "chemical_mass": 73045.0, "gene_names": "Fzd8;Fz8;Fzd8", "protein_name": "Frizzled-8", "disease": [], "cellular_component": [ { "name": "neuronal dense core vesicle", "id": "GO:0098992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098992", "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "pmid": "" }, { "name": "Wnt-Frizzled-LRP5/6 complex", "id": "GO:1990851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990851", "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "pmid": "" } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "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": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "pmid": "" }, { "name": "non-canonical Wnt signaling pathway", "id": "GO:0035567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035567", "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "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": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "pmid": "" }, { "name": "Wnt-protein binding", "id": "GO:0017147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017147", "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "pmid": "" }, { "name": "Wnt receptor activity", "id": "GO:0042813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042813", "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61091-1", "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": "Q61091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61091#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61091-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Asn473", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 473, "start_aa": "Asn", "end_pos": 473, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn473", "evidence": [ { "id": "Q61091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61091#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61091-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Asn49", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "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=6AHY&bu=0&command=select+.A:49;+center+selection;+zoom+selection" }, "start_pos": 49, "start_aa": "Asn", "end_pos": 49, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn49", "evidence": [ { "id": "Q61091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61091#ptm_processing" }, { "id": "6AHY", "database": "PDB", "url": "https://www.rcsb.org/structure/6AHY" }, { "id": "6AHY", "database": "PDB", "url": "https://www.rcsb.org/structure/6AHY" }, { "id": "6AHY|A|49", "database": "", "url": "" }, { "id": "6AHY|C|49", "database": "", "url": "" }, { "id": "6AHY|E|49", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q61091-1", "start_pos": "685", "end_pos": "685", "site_lbl": "Val685", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Reduces interaction with GOPC.", "evidence": [ { "database": "UniProtKB", "id": "Q61091", "url": "https://www.uniprot.org/uniprotkb/Q61091" }, { "database": "PubMed", "id": "11520064", "url": "https://glygen.org/publication/PubMed/11520064" } ] } ] } ], "record_id": "Q61091-1" }, { "uniprot_canonical_ac": "Q02111-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 707, "chemical_mass": 81573.0, "gene_names": "Prkcq;A130035A12Rik;PKC-0;PKC-theta;PKCtheta;Pkcq;Prkcq", "protein_name": "Protein kinase C theta type", "disease": [ { "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: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: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": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "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": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "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": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "positive regulation of T-helper 2 cell activation", "id": "GO:2000570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000570", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "membrane protein ectodomain proteolysis", "id": "GO:0006509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006509", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "regulation of G2/M transition of mitotic cell cycle", "id": "GO:0010389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010389", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "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": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "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": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "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": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "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": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "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": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "negative regulation of T cell apoptotic process", "id": "GO:0070233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070233", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "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": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "regulation of platelet aggregation", "id": "GO:0090330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090330", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "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": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" } ], "molecular_function": [ { "name": "diacylglycerol-dependent, calcium-independent serine/threonine kinase activity", "id": "GO:0004699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004699", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "diacylglycerol-dependent serine/threonine kinase activity", "id": "GO:0004697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004697", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "immunological synapse", "id": "GO:0001772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001772", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" }, { "name": "aggresome", "id": "GO:0016235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016235", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q02111-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Thr335", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 335, "start_aa": "Thr", "end_pos": 335, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr335", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q02111-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Thr219", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ] } ] }, { "uniprot_canonical_ac": "Q02111-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Ser303", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q02111", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q02111" }, { "database": "iPTMnet", "id": "Q02111", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02111" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "Q02111-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Ser307", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q02111", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q02111" }, { "database": "iPTMnet", "id": "Q02111", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02111" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "25381390", "url": "https://glygen.org/publication/PubMed/25381390" } ] } ] }, { "uniprot_canonical_ac": "Q02111-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Ser323", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q02111", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q02111" }, { "database": "iPTMnet", "id": "Q02111", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02111" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "Q02111-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Ser348", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ] } ] }, { "uniprot_canonical_ac": "Q02111-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Ser365", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q02111", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q02111" }, { "database": "iPTMnet", "id": "Q02111", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02111" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "Q02111-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Thr369", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q02111", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q02111" }, { "database": "iPTMnet", "id": "Q02111", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02111" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "Q02111-1", "start_pos": "536", "end_pos": "536", "site_lbl": "Thr536", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q02111", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q02111" }, { "database": "iPTMnet", "id": "Q02111", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02111" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "Q02111-1", "start_pos": "538", "end_pos": "538", "site_lbl": "Thr538", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" }, { "database": "PRO", "id": "Q02111", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q02111" }, { "database": "iPTMnet", "id": "Q02111", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02111" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "18086904", "url": "https://glygen.org/publication/PubMed/18086904" }, { "database": "PubMed", "id": "18263766", "url": "https://glygen.org/publication/PubMed/18263766" }, { "database": "PubMed", "id": "21364651", "url": "https://glygen.org/publication/PubMed/21364651" } ] } ] }, { "uniprot_canonical_ac": "Q02111-1", "start_pos": "676", "end_pos": "676", "site_lbl": "Ser676", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" }, { "database": "PRO", "id": "Q02111", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q02111" }, { "database": "iPTMnet", "id": "Q02111", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02111" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "Q02111-1", "start_pos": "685", "end_pos": "685", "site_lbl": "Ser685", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ] } ] }, { "uniprot_canonical_ac": "Q02111-1", "start_pos": "695", "end_pos": "695", "site_lbl": "Ser695", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" }, { "database": "iPTMnet", "id": "Q02111", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02111" }, { "database": "PubMed", "id": "14725789", "url": "https://glygen.org/publication/PubMed/14725789" } ] } ] }, { "uniprot_canonical_ac": "Q02111-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Tyr90", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02111", "url": "https://www.uniprot.org/uniprotkb/Q02111" } ] } ] } ], "record_id": "Q02111-1" }, { "uniprot_canonical_ac": "O88572-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1613, "chemical_mass": 180255.0, "gene_names": "Lrp6;C030016K15Rik;Cd;Gw;Lrp6;ska26;ska;skax26", "protein_name": "Low-density lipoprotein receptor-related protein 6", "disease": [ { "disease_id": "DOID:0050591", "name": "tooth agenesis", "description": "A tooth disease characterized by failure to develop one or more missing teeth.", "url": "https://disease-ontology.org/term/DOID:0050591", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ], "weight": 0.0 }, { "disease_id": "DOID:0080074", "name": "neural tube defect", "description": "A physical disorder characterized by incomplete closure of the neural tube.", "url": "https://disease-ontology.org/term/DOID:0080074", "evidence": [ { "id": "0080074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080074" } ], "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 } ], "biological_process": [ { "name": "mammary gland duct morphogenesis", "id": "GO:0060603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060603", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "embryonic retina morphogenesis in camera-type eye", "id": "GO:0060059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060059", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "retina morphogenesis in camera-type eye", "id": "GO:0060042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060042", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "forebrain radial glial cell differentiation", "id": "GO:0021861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021861", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "trachea cartilage morphogenesis", "id": "GO:0060535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060535", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "neural crest formation", "id": "GO:0014029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014029", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "establishment of blood-brain barrier", "id": "GO:0060856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060856", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "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": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "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": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "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": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "cellular response to cholesterol", "id": "GO:0071397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071397", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "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": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "positive regulation of bone resorption", "id": "GO:0045780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045780", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "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": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "neural crest cell differentiation", "id": "GO:0014033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014033", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "cerebellum morphogenesis", "id": "GO:0021587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021587", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "bone remodeling", "id": "GO:0046849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046849", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "cerebral cortex cell migration", "id": "GO:0021795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021795", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "gastrulation with mouth forming second", "id": "GO:0001702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001702", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "cell migration involved in gastrulation", "id": "GO:0042074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042074", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "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": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "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": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "formation of radial glial scaffolds", "id": "GO:0021943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021943", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "response to folic acid", "id": "GO:0051593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051593", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "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": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "limb morphogenesis", "id": "GO:0035108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035108", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "generation of neurons", "id": "GO:0048699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048699", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "mesodermal cell migration", "id": "GO:0008078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008078", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "midbrain-hindbrain boundary development", "id": "GO:0030917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030917", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "axis elongation", "id": "GO:0003401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003401", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "negative regulation of non-canonical Wnt signaling pathway", "id": "GO:2000051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000051", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "pericardium morphogenesis", "id": "GO:0003344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003344", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "embryonic camera-type eye morphogenesis", "id": "GO:0048596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048596", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "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": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "dorsal/ventral axis specification", "id": "GO:0009950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009950", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "positive regulation of ossification", "id": "GO:0045778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045778", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "forebrain generation of neurons", "id": "GO:0021872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021872", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "post-anal tail morphogenesis", "id": "GO:0036342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036342", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "primitive streak formation", "id": "GO:0090009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090009", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "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": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "thalamus development", "id": "GO:0021794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021794", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "establishment of blood-retinal barrier", "id": "GO:1990963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990963", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "mammary placode formation", "id": "GO:0060596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060596", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "external genitalia morphogenesis", "id": "GO:0035261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035261", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "convergent extension", "id": "GO:0060026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060026", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "axis elongation involved in somitogenesis", "id": "GO:0090245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090245", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "regulation of cell development", "id": "GO:0060284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060284", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "Norrin signaling pathway", "id": "GO:0110135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110135", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "frizzled binding", "id": "GO:0005109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005109", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "apolipoprotein binding", "id": "GO:0034185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034185", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "toxin transmembrane transporter activity", "id": "GO:0019534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019534", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "Wnt-protein binding", "id": "GO:0017147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017147", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "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": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "Wnt receptor activity", "id": "GO:0042813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042813", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "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": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "kinase inhibitor activity", "id": "GO:0019210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019210", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" } ], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "Wnt signalosome", "id": "GO:1990909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990909", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "Wnt-Frizzled-LRP5/6 complex", "id": "GO:1990851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990851", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88572-1", "start_pos": "1572", "end_pos": "1572", "site_lbl": "Thr1572", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1572, "start_aa": "Thr", "end_pos": 1572, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1572", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O88572-1", "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": "O88572", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O88572#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O88572-1", "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": "O88572", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O88572#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O88572-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Asn433", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 433, "start_aa": "Asn", "end_pos": 433, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn433", "evidence": [ { "id": "O88572", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O88572#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O88572-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Asn486", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 486, "start_aa": "Asn", "end_pos": 486, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn486", "evidence": [ { "id": "O88572", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O88572#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O88572-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Asn692", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "O88572", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O88572#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O88572-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Asn81", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "O88572", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O88572#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O88572-1", "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": "O88572", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O88572#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O88572-1", "start_pos": "865", "end_pos": "865", "site_lbl": "Asn865", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 865, "start_aa": "Asn", "end_pos": 865, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn865", "evidence": [ { "id": "O88572", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O88572#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O88572-1", "start_pos": "926", "end_pos": "926", "site_lbl": "Asn926", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 926, "start_aa": "Asn", "end_pos": 926, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn926", "evidence": [ { "id": "O88572", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O88572#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O88572-1", "start_pos": "1420", "end_pos": "1420", "site_lbl": "Ser1420", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ] } ] }, { "uniprot_canonical_ac": "O88572-1", "start_pos": "1430", "end_pos": "1430", "site_lbl": "Ser1430", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" } ] } ] }, { "uniprot_canonical_ac": "O88572-1", "start_pos": "1479", "end_pos": "1479", "site_lbl": "Thr1479", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" }, { "database": "iPTMnet", "id": "O88572", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88572" }, { "database": "PubMed", "id": "22615780", "url": "https://glygen.org/publication/PubMed/22615780" } ] } ] }, { "uniprot_canonical_ac": "O88572-1", "start_pos": "1490", "end_pos": "1490", "site_lbl": "Ser1490", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" }, { "database": "iPTMnet", "id": "O88572", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88572" }, { "database": "PubMed", "id": "22491013", "url": "https://glygen.org/publication/PubMed/22491013" }, { "database": "PubMed", "id": "22615780", "url": "https://glygen.org/publication/PubMed/22615780" }, { "database": "PubMed", "id": "26015543", "url": "https://glygen.org/publication/PubMed/26015543" }, { "database": "PubMed", "id": "30258857", "url": "https://glygen.org/publication/PubMed/30258857" } ] } ] }, { "uniprot_canonical_ac": "O88572-1", "start_pos": "1493", "end_pos": "1493", "site_lbl": "Thr1493", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88572", "url": "https://www.uniprot.org/uniprotkb/O88572" }, { "database": "iPTMnet", "id": "O88572", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88572" }, { "database": "PubMed", "id": "22615780", "url": "https://glygen.org/publication/PubMed/22615780" } ] } ] }, { "uniprot_canonical_ac": "O88572-1", "start_pos": "1579", "end_pos": "1579", "site_lbl": "Ser1579", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "O88572", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88572" }, { "database": "PubMed", "id": "22491013", "url": "https://glygen.org/publication/PubMed/22491013" } ] } ] }, { "uniprot_canonical_ac": "O88572-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Ala43", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAT->NPT).", "chr_id": "6", "chr_pos": "134518937", "evidence": [ { "id": "rs3388867583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388867583" } ] } ] }, { "uniprot_canonical_ac": "O88572-1", "start_pos": "587", "end_pos": "587", "site_lbl": "Ile587", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IGS->NGS).", "chr_id": "6", "chr_pos": "134463420", "evidence": [ { "id": "rs3397570213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397570213" } ] } ] } ], "record_id": "O88572-1" }, { "uniprot_canonical_ac": "Q60787-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60787", "url": "https://www.uniprot.org/uniprotkb/Q60787" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 533, "chemical_mass": 60238.0, "gene_names": "Lcp2;Lcp2;SLP-76;SLP76;m1Khoe;twm", "protein_name": "Lymphocyte cytosolic protein 2", "disease": [ { "disease_id": "DOID:0061052", "name": "immunodeficiency 81", "description": "A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33.", "url": "https://disease-ontology.org/term/DOID:0061052", "evidence": [ { "id": "0061052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061052" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q60787", "url": "https://www.uniprot.org/uniprotkb/Q60787" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q60787", "url": "https://www.uniprot.org/uniprotkb/Q60787" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q60787", "url": "https://www.uniprot.org/uniprotkb/Q60787" } ], "pmid": "" }, { "name": "plasma membrane raft", "id": "GO:0044853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044853", "evidence": [ { "database": "UniProtKB", "id": "Q60787", "url": "https://www.uniprot.org/uniprotkb/Q60787" } ], "pmid": "" }, { "name": "TCR signalosome", "id": "GO:0036398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036398", "evidence": [ { "database": "UniProtKB", "id": "Q60787", "url": "https://www.uniprot.org/uniprotkb/Q60787" } ], "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": "Q60787", "url": "https://www.uniprot.org/uniprotkb/Q60787" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q60787", "url": "https://www.uniprot.org/uniprotkb/Q60787" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "Q60787", "url": "https://www.uniprot.org/uniprotkb/Q60787" } ], "pmid": "" }, { "name": "mast cell activation", "id": "GO:0045576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045576", "evidence": [ { "database": "UniProtKB", "id": "Q60787", "url": "https://www.uniprot.org/uniprotkb/Q60787" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "Q60787", "url": "https://www.uniprot.org/uniprotkb/Q60787" } ], "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": "Q60787", "url": "https://www.uniprot.org/uniprotkb/Q60787" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60787-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Tyr112", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q60787", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60787" }, { "database": "PubMed", "id": "18663126", "url": "https://glygen.org/publication/PubMed/18663126" } ] } ] }, { "uniprot_canonical_ac": "Q60787-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Tyr128", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q60787", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q60787" }, { "database": "iPTMnet", "id": "Q60787", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60787" }, { "database": "PubMed", "id": "27609517", "url": "https://glygen.org/publication/PubMed/27609517" }, { "database": "PubMed", "id": "18663126", "url": "https://glygen.org/publication/PubMed/18663126" }, { "database": "PubMed", "id": "28107427", "url": "https://glygen.org/publication/PubMed/28107427" }, { "database": "PubMed", "id": "28188290", "url": "https://glygen.org/publication/PubMed/28188290" }, { "database": "PubMed", "id": "31249969", "url": "https://glygen.org/publication/PubMed/31249969" } ] } ] }, { "uniprot_canonical_ac": "Q60787-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Tyr145", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q60787", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60787" }, { "database": "PubMed", "id": "18663126", "url": "https://glygen.org/publication/PubMed/18663126" }, { "database": "PubMed", "id": "28188290", "url": "https://glygen.org/publication/PubMed/28188290" } ] } ] }, { "uniprot_canonical_ac": "Q60787-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Ser207", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60787", "url": "https://www.uniprot.org/uniprotkb/Q60787" } ] } ] }, { "uniprot_canonical_ac": "Q60787-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Ser210", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60787", "url": "https://www.uniprot.org/uniprotkb/Q60787" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q60787", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60787" } ] } ] }, { "uniprot_canonical_ac": "Q60787-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Tyr23", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60787", "url": "https://www.uniprot.org/uniprotkb/Q60787" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q60787", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60787" } ] } ] }, { "uniprot_canonical_ac": "Q60787-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Ser376", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60787", "url": "https://www.uniprot.org/uniprotkb/Q60787" }, { "database": "iPTMnet", "id": "Q60787", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60787" }, { "database": "PubMed", "id": "28107427", "url": "https://glygen.org/publication/PubMed/28107427" } ] } ] }, { "uniprot_canonical_ac": "Q60787-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Ser410", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60787", "url": "https://www.uniprot.org/uniprotkb/Q60787" } ] } ] } ], "record_id": "Q60787-1" }, { "uniprot_canonical_ac": "Q61033-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 693, "chemical_mass": 75168.0, "gene_names": "Tmpo;5630400D24Rik;LAP2;Lap2;TP;Tmpo", "protein_name": "Lamina-associated polypeptide 2, isoforms alpha/zeta", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" } ], "pmid": "" } ], "cellular_component": [ { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" } ], "pmid": "" }, { "name": "nuclear inner membrane", "id": "GO:0005637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005637", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" } ], "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": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61033-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Thr163", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 163, "start_aa": "Thr", "end_pos": 163, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr163", "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": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" }, { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Asn24", "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": "SELVANNVTLPAGEQR", "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" } ] }, { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SELVANNVTLPAGEQR", "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": "Q61033-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Thr153", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" }, { "database": "iPTMnet", "id": "Q61029", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61029" }, { "database": "iPTMnet", "id": "Q61033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61033" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Ser155", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" }, { "database": "iPTMnet", "id": "Q61029", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61029" }, { "database": "iPTMnet", "id": "Q61033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61033" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "158", "end_pos": "158", "site_lbl": "Ser158", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" }, { "database": "iPTMnet", "id": "Q61029", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61029" }, { "database": "iPTMnet", "id": "Q61033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61033" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Thr159", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" }, { "database": "PubMed", "id": "10413518", "url": "https://glygen.org/publication/PubMed/10413518" }, { "database": "iPTMnet", "id": "Q61029", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61029" }, { "database": "iPTMnet", "id": "Q61033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61033" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Ser165", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" }, { "database": "iPTMnet", "id": "Q61029", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61029" }, { "database": "iPTMnet", "id": "Q61033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61033" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Ser167", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" }, { "database": "iPTMnet", "id": "Q61029", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61029" }, { "database": "iPTMnet", "id": "Q61033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61033" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Ser176", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" }, { "database": "PubMed", "id": "10413518", "url": "https://glygen.org/publication/PubMed/10413518" }, { "database": "iPTMnet", "id": "Q61029", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61029" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Ser179", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" }, { "database": "iPTMnet", "id": "Q61029", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61029" }, { "database": "PubMed", "id": "10413518", "url": "https://glygen.org/publication/PubMed/10413518" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Ser183", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Ser221", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "291", "end_pos": "291", "site_lbl": "Ser291", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Ser310", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Ser349", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Ser352", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Ser361", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61029", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61029" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Ser368", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "420", "end_pos": "420", "site_lbl": "Ser420", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61033" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Ser422", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" }, { "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": "Q61033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61033" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "464", "end_pos": "464", "site_lbl": "Ser464", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" }, { "database": "iPTMnet", "id": "Q61029", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61029" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Ser59", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" }, { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Ser66", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" }, { "database": "iPTMnet", "id": "Q61029", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61029" }, { "database": "iPTMnet", "id": "Q61033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61033" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Ser67", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" }, { "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": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" }, { "database": "iPTMnet", "id": "Q61029", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61029" }, { "database": "iPTMnet", "id": "Q61033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61033" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Thr74", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" }, { "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": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "10413518", "url": "https://glygen.org/publication/PubMed/10413518" }, { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" }, { "database": "iPTMnet", "id": "Q61029", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61029" }, { "database": "iPTMnet", "id": "Q61033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61033" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Ser79", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" }, { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" } ] } ] }, { "uniprot_canonical_ac": "Q61033-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Ser82", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61029", "url": "https://www.uniprot.org/uniprotkb/Q61029" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "UniProtKB", "id": "Q61033", "url": "https://www.uniprot.org/uniprotkb/Q61033" }, { "database": "iPTMnet", "id": "Q61029", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61029" }, { "database": "iPTMnet", "id": "Q61033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61033" } ] } ] } ], "record_id": "Q61033-1" }, { "uniprot_canonical_ac": "Q6DVA0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 511, "chemical_mass": 57507.0, "gene_names": "Lemd2;Lem2;Lemd2;NET25", "protein_name": "LEM domain-containing protein 2", "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:0110243", "name": "cataract 46 juvenile-onset", "description": "A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21.", "url": "https://disease-ontology.org/term/DOID:0110243", "evidence": [ { "id": "0110243", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110243" } ], "weight": 0.0 }, { "disease_id": "DOID:11726", "name": "Emery-Dreifuss muscular dystrophy", "description": "A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.", "url": "https://disease-ontology.org/term/DOID:11726", "evidence": [ { "id": "11726", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11726" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" } ], "pmid": "" }, { "name": "nuclear inner membrane", "id": "GO:0005637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005637", "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" } ], "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": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" } ], "pmid": "" }, { "name": "nuclear envelope organization", "id": "GO:0006998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006998", "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" } ], "pmid": "" }, { "name": "heart formation", "id": "GO:0060914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060914", "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" } ], "pmid": "" }, { "name": "protein localization to chromatin", "id": "GO:0071168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071168", "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6DVA0-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Asn319", "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": "LKSKCIPVLEAQEYIANVTSSPSSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 319, "start_aa": "Asn", "end_pos": 319, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn319", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q6DVA0-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Asn479", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G14882IL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VWDRAVEFLASNESR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 479, "start_aa": "Asn", "end_pos": 479, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn479", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q6DVA0-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Ser505", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" } ] } ] }, { "uniprot_canonical_ac": "Q6DVA0-1", "start_pos": "507", "end_pos": "507", "site_lbl": "Ser507", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" }, { "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": "Q6DVA0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6DVA0" } ] } ] }, { "uniprot_canonical_ac": "Q6DVA0-1", "start_pos": "509", "end_pos": "509", "site_lbl": "Ser509", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q6DVA0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6DVA0" } ] } ] }, { "uniprot_canonical_ac": "Q6DVA0-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Leu13", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Reduced Lemd2 protein levels. Disorganization of heterochromatin associated with the nuclear envelope in cardiomyocytes. Increased DNA double-strand breaks in the heart. Dilation of the atrial and ventricular chambers, severe systolic dysfunction and cardiac fibrosis leading to premature death. No defects in skeletal muscle observed.", "evidence": [ { "database": "UniProtKB", "id": "Q6DVA0", "url": "https://www.uniprot.org/uniprotkb/Q6DVA0" }, { "database": "PubMed", "id": "36377660", "url": "https://glygen.org/publication/PubMed/36377660" } ] } ] } ], "record_id": "Q6DVA0-1" }, { "uniprot_canonical_ac": "Q8BSS9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1257, "chemical_mass": 143234.0, "gene_names": "Ppfia2;5330438O12;B230207K17Rik;E130120L08Rik;Ppfia2;mKIAA4112", "protein_name": "Liprin-alpha-2", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" }, { "name": "postsynaptic specialization", "id": "GO:0099572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099572", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" }, { "name": "presynaptic cytosol", "id": "GO:0099523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099523", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" } ], "biological_process": [ { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" }, { "name": "regulation of dendritic spine development", "id": "GO:0060998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060998", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" }, { "name": "regulation of dendritic spine morphogenesis", "id": "GO:0061001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061001", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle exocytosis", "id": "GO:2000300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000300", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" }, { "name": "dense core granule cytoskeletal transport", "id": "GO:0099519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099519", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "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": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" }, { "name": "structural constituent of postsynaptic density", "id": "GO:0098919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098919", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" }, { "name": "structural constituent of presynapse", "id": "GO:0099181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099181", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BSS9-1", "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": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q8BSS9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BSS9" } ] } ] }, { "uniprot_canonical_ac": "Q8BSS9-1", "start_pos": "545", "end_pos": "545", "site_lbl": "Ser545", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 545, "start_aa": "Ser", "end_pos": 545, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser545", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BSS9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BSS9" } ] } ] }, { "uniprot_canonical_ac": "Q8BSS9-1", "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": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BSS9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BSS9" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8BSS9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BSS9" } ] } ] }, { "uniprot_canonical_ac": "Q8BSS9-1", "start_pos": "551", "end_pos": "551", "site_lbl": "Thr551", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 551, "start_aa": "Thr", "end_pos": 551, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr551", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8BSS9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BSS9" } ] } ] }, { "uniprot_canonical_ac": "Q8BSS9-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Ser552", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 552, "start_aa": "Ser", "end_pos": 552, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser552", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BSS9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BSS9" }, { "id": "35822049", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35822049" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8BSS9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BSS9" } ] } ] }, { "uniprot_canonical_ac": "Q8BSS9-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Ser558", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 558, "start_aa": "Ser", "end_pos": 558, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser558", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8BSS9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BSS9" } ] } ] }, { "uniprot_canonical_ac": "Q8BSS9-1", "start_pos": "601", "end_pos": "601", "site_lbl": "Asn601", "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": "SLGDHEWNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 601, "start_aa": "Asn", "end_pos": 601, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn601", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8BSS9-1", "start_pos": "778", "end_pos": "778", "site_lbl": "Thr778", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 778, "start_aa": "Thr", "end_pos": 778, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr778", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BSS9-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Ser236", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BSS9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BSS9" } ] } ] }, { "uniprot_canonical_ac": "Q8BSS9-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Thr237", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BSS9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BSS9" } ] } ] }, { "uniprot_canonical_ac": "Q8BSS9-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Ser239", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BSS9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BSS9" } ] } ] }, { "uniprot_canonical_ac": "Q8BSS9-1", "start_pos": "687", "end_pos": "687", "site_lbl": "Ser687", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BSS9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BSS9" } ] } ] }, { "uniprot_canonical_ac": "Q8BSS9-1", "start_pos": "689", "end_pos": "689", "site_lbl": "Ser689", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BSS9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BSS9" } ] } ] }, { "uniprot_canonical_ac": "Q8BSS9-1", "start_pos": "817", "end_pos": "817", "site_lbl": "Ser817", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BSS9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BSS9" } ] } ] }, { "uniprot_canonical_ac": "Q8BSS9-1", "start_pos": "820", "end_pos": "820", "site_lbl": "Ser820", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BSS9", "url": "https://www.uniprot.org/uniprotkb/Q8BSS9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BSS9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BSS9" } ] } ] } ], "record_id": "Q8BSS9-1" }, { "uniprot_canonical_ac": "Q9QXW9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 531, "chemical_mass": 57873.0, "gene_names": "Slc7a8;LAT2;Lat2;Slc7a8", "protein_name": "Large neutral amino acids transporter small subunit 2", "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 } ], "molecular_function": [ { "name": "L-alanine transmembrane transporter activity", "id": "GO:0015180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015180", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "glycine transmembrane transporter activity", "id": "GO:0015187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015187", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "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": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "toxin transmembrane transporter activity", "id": "GO:0019534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019534", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "amino acid transmembrane transporter activity", "id": "GO:0015171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015171", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "neutral L-amino acid transmembrane transporter activity", "id": "GO:0015175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015175", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "antiporter activity", "id": "GO:0015297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "amine transmembrane transporter activity", "id": "GO:0005275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005275", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "thyroid hormone transmembrane transporter activity", "id": "GO:0015349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015349", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "L-leucine transmembrane transporter activity", "id": "GO:0015190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015190", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" } ], "biological_process": [ { "name": "glycine transport", "id": "GO:0015816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015816", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "L-leucine transport", "id": "GO:0015820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015820", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "proline transmembrane transport", "id": "GO:0035524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035524", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "L-leucine import across plasma membrane", "id": "GO:1903801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903801", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "neutral amino acid transport", "id": "GO:0015804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015804", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "tryptophan transport", "id": "GO:0015827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015827", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "amino acid transmembrane transport", "id": "GO:0003333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003333", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "thyroid hormone transport", "id": "GO:0070327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070327", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "L-amino acid transport", "id": "GO:0015807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015807", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "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": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "valine transport", "id": "GO:0015829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015829", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "L-alanine import across plasma membrane", "id": "GO:1904273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904273", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "microvillus membrane", "id": "GO:0031528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031528", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" }, { "name": "transmembrane transporter complex", "id": "GO:1902495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902495", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QXW9-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ser18", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXW9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXW9" } ] } ] }, { "uniprot_canonical_ac": "Q9QXW9-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ser21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXW9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXW9" } ] } ] }, { "uniprot_canonical_ac": "Q9QXW9-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Ser27", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXW9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXW9" } ] } ] }, { "uniprot_canonical_ac": "Q9QXW9-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Ser28", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXW9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXW9" } ] } ] }, { "uniprot_canonical_ac": "Q9QXW9-1", "start_pos": "527", "end_pos": "527", "site_lbl": "Ser527", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" } ] } ] }, { "uniprot_canonical_ac": "Q9QXW9-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Tyr130", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Increases T2 import. Increases T3 and enables T4 import. Does not affect L-leucine and L-phenylalanine uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" }, { "database": "PubMed", "id": "28108384", "url": "https://glygen.org/publication/PubMed/28108384" } ] } ] }, { "uniprot_canonical_ac": "Q9QXW9-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Asn133", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Increases T2 import. Does not affect T3 import. Does not affect L-leucine and L-phenylalanine uptake. Increases the export of both L-leucine and L-phenylalanine.", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" }, { "database": "PubMed", "id": "28108384", "url": "https://glygen.org/publication/PubMed/28108384" } ] } ] }, { "uniprot_canonical_ac": "Q9QXW9-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Phe242", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "W", "comment": "Increases T2 import. Does not affect T3 import. Does not affect L-leucine and L-phenylalanine uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q9QXW9", "url": "https://www.uniprot.org/uniprotkb/Q9QXW9" }, { "database": "PubMed", "id": "28108384", "url": "https://glygen.org/publication/PubMed/28108384" } ] } ] } ], "record_id": "Q9QXW9-1" }, { "uniprot_canonical_ac": "P08249-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 338, "chemical_mass": 35611.0, "gene_names": "Mdh2;MDH;Mdh-2;Mdh2;Mor-1;Mor1", "protein_name": "Malate dehydrogenase, mitochondrial", "disease": [ { "disease_id": "DOID:0080433", "name": "developmental and epileptic encephalopathy 51", "description": "A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11.", "url": "https://disease-ontology.org/term/DOID:0080433", "evidence": [ { "id": "0080433", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080433" } ], "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: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 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "pmid": "" } ], "biological_process": [ { "name": "tricarboxylic acid cycle", "id": "GO:0006099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006099", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "pmid": "" }, { "name": "aerobic respiration", "id": "GO:0009060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009060", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "pmid": "" }, { "name": "malate metabolic process", "id": "GO:0006108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006108", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "pmid": "" }, { "name": "malate-aspartate shuttle", "id": "GO:0043490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043490", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "pmid": "" }, { "name": "glyceraldehyde-3-phosphate biosynthetic process", "id": "GO:0046166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046166", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "pmid": "" }, { "name": "L-malate dehydrogenase (NAD+) activity", "id": "GO:0030060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030060", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "pmid": "" }, { "name": "malate dehydrogenase activity", "id": "GO:0016615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016615", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "pmid": "" }, { "name": "L-malate dehydrogenase (NADP+) activity", "id": "GO:0046554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046554", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P08249-1", "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": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P08249", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P08249" } ] } ] }, { "uniprot_canonical_ac": "P08249-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Ser33", "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": 33, "start_aa": "Ser", "end_pos": 33, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser33", "evidence": [ { "id": "P08249", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P08249#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P08249-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Ser246", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P08249", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08249" } ] } ] }, { "uniprot_canonical_ac": "P08249-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Thr309", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P08249", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08249" } ] } ] }, { "uniprot_canonical_ac": "P08249-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Ser326", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P08249", "url": "https://www.uniprot.org/uniprotkb/P08249" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P08249", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08249" } ] } ] } ], "record_id": "P08249-1" }, { "uniprot_canonical_ac": "Q99LQ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 341, "chemical_mass": 38333.0, "gene_names": "Mbip;4933408E06Rik;Mbip", "protein_name": "MAP3K12-binding inhibitory protein 1", "disease": [], "biological_process": [ { "name": "regulation of tubulin deacetylation", "id": "GO:0090043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090043", "evidence": [ { "database": "UniProtKB", "id": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "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": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "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": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "pmid": "" }, { "name": "regulation of cell division", "id": "GO:0051302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051302", "evidence": [ { "database": "UniProtKB", "id": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "pmid": "" }, { "name": "ATAC complex", "id": "GO:0140672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140672", "evidence": [ { "database": "UniProtKB", "id": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "pmid": "" }, { "name": "protein kinase inhibitor activity", "id": "GO:0004860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004860", "evidence": [ { "database": "UniProtKB", "id": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99LQ1-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Ser91", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99LQ1", "url": "https://www.uniprot.org/uniprotkb/Q99LQ1" } ] } ] } ], "record_id": "Q99LQ1-1" }, { "uniprot_canonical_ac": "O54992-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 473, "chemical_mass": 54152.0, "gene_names": "Mapkapk5;MK5;Mapkapk5;PRAK", "protein_name": "MAP kinase-activated protein kinase 5", "disease": [], "biological_process": [ { "name": "stress-induced premature senescence", "id": "GO:0090400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090400", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "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": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "negative regulation of TOR signaling", "id": "GO:0032007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032007", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "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": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium-dependent protein serine/threonine kinase activity", "id": "GO:0009931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009931", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "mitogen-activated protein kinase binding", "id": "GO:0051019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051019", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "p53 binding", "id": "GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "calcium/calmodulin-dependent protein kinase activity", "id": "GO:0004683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004683", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" } ], "cellular_component": [ { "name": "septin cytoskeleton", "id": "GO:0032156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032156", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O54992-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Ser43", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 43, "start_aa": "Ser", "end_pos": 43, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser43", "evidence": [ { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "O54992", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O54992" } ] } ] }, { "uniprot_canonical_ac": "O54992-1", "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": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "O54992", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O54992" } ] } ] }, { "uniprot_canonical_ac": "O54992-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Ser115", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" }, { "database": "iPTMnet", "id": "O54992", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54992" }, { "database": "PubMed", "id": "20734105", "url": "https://glygen.org/publication/PubMed/20734105" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Impairs shuttling to the cytoplasm.", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" }, { "database": "PubMed", "id": "20734105", "url": "https://glygen.org/publication/PubMed/20734105" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Mimicks phosphorylation state, leading to localization to the cytoplasm.", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" }, { "database": "PubMed", "id": "20734105", "url": "https://glygen.org/publication/PubMed/20734105" } ] } ] }, { "uniprot_canonical_ac": "O54992-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Thr182", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" }, { "database": "iPTMnet", "id": "O54992", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O54992" }, { "database": "PubMed", "id": "15577943", "url": "https://glygen.org/publication/PubMed/15577943" }, { "database": "PubMed", "id": "15538386", "url": "https://glygen.org/publication/PubMed/15538386" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Impairs protein kinase activity and shuttling to the cytoplasm.", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" }, { "database": "PubMed", "id": "17254968", "url": "https://glygen.org/publication/PubMed/17254968" }, { "database": "PubMed", "id": "15577943", "url": "https://glygen.org/publication/PubMed/15577943" }, { "database": "PubMed", "id": "20640477", "url": "https://glygen.org/publication/PubMed/20640477" }, { "database": "PubMed", "id": "15538386", "url": "https://glygen.org/publication/PubMed/15538386" } ] } ] }, { "uniprot_canonical_ac": "O54992-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ser212", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ] } ] }, { "uniprot_canonical_ac": "O54992-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Ser354", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" } ] } ] }, { "uniprot_canonical_ac": "O54992-1", "start_pos": "337", "end_pos": "337", "site_lbl": "Leu337", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Constitutive active mutant. In a knockin model, mouse display increased amounts of head dips and open arm time on the maze, compared to littermate controls. In addition, they also explore further into the open arm on the elevated plus maze and are less active in the closed arm compared to littermate controls. Male knockin mice display no differences in anxiety, but their locomotor activity increases compared to non-transgenic littermates.", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" }, { "database": "PubMed", "id": "17997833", "url": "https://glygen.org/publication/PubMed/17997833" } ] } ] }, { "uniprot_canonical_ac": "O54992-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Lys51", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "No p38-alpha/MAPK14-, p38-beta/MAPK11-, ERK3/MAPK6-, ERK4/MAPK4-induced activation.", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" }, { "database": "PubMed", "id": "21336308", "url": "https://glygen.org/publication/PubMed/21336308" }, { "database": "PubMed", "id": "15538386", "url": "https://glygen.org/publication/PubMed/15538386" }, { "database": "PubMed", "id": "9480836", "url": "https://glygen.org/publication/PubMed/9480836" }, { "database": "PubMed", "id": "17254968", "url": "https://glygen.org/publication/PubMed/17254968" } ] }, { "sequence_org": "K", "sequence_mut": "M", "comment": "Kinase defective mutant, abolishes activity.", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" }, { "database": "PubMed", "id": "17254968", "url": "https://glygen.org/publication/PubMed/17254968" }, { "database": "PubMed", "id": "9480836", "url": "https://glygen.org/publication/PubMed/9480836" }, { "database": "PubMed", "id": "21336308", "url": "https://glygen.org/publication/PubMed/21336308" }, { "database": "PubMed", "id": "15538386", "url": "https://glygen.org/publication/PubMed/15538386" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Kinase defective mutant, abolishes activity.", "evidence": [ { "database": "UniProtKB", "id": "O54992", "url": "https://www.uniprot.org/uniprotkb/O54992" }, { "database": "PubMed", "id": "17254968", "url": "https://glygen.org/publication/PubMed/17254968" }, { "database": "PubMed", "id": "9480836", "url": "https://glygen.org/publication/PubMed/9480836" }, { "database": "PubMed", "id": "21336308", "url": "https://glygen.org/publication/PubMed/21336308" }, { "database": "PubMed", "id": "15538386", "url": "https://glygen.org/publication/PubMed/15538386" } ] } ] } ], "record_id": "O54992-1" }, { "uniprot_canonical_ac": "P50481-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 400, "chemical_mass": 44010.0, "gene_names": "Lhx3;Lhx3;Lim-3;Lim3;P-LIM;Plim;mLIM3;mLim-3", "protein_name": "LIM/homeobox protein Lhx3", "disease": [ { "disease_id": "DOID:0061021", "name": "combined pituitary hormone deficiency 3", "description": "A combined pituitary hormone deficiency that has_material_basis_in homozygous mutation in the LHX3 gene on chromosome 9q34.", "url": "https://disease-ontology.org/term/DOID:0061021", "evidence": [ { "id": "0061021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061021" } ], "weight": 0.0 }, { "disease_id": "DOID:9406", "name": "hypopituitarism", "description": "A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.", "url": "https://disease-ontology.org/term/DOID:9406", "evidence": [ { "id": "9406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9406" } ], "weight": 0.0 } ], "biological_process": [ { "name": "spinal cord motor neuron cell fate specification", "id": "GO:0021520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021520", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "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": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "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": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "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": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "pituitary gland development", "id": "GO:0021983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021983", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "spinal cord association neuron differentiation", "id": "GO:0021527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021527", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "ventral spinal cord interneuron specification", "id": "GO:0021521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021521", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "medial motor column neuron differentiation", "id": "GO:0021526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021526", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "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": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "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": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "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": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "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": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P50481-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Tyr230", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ] } ] }, { "uniprot_canonical_ac": "P50481-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Ser237", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ] } ] }, { "uniprot_canonical_ac": "P50481-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Ser241", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ] } ] }, { "uniprot_canonical_ac": "P50481-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Ser74", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P50481", "url": "https://www.uniprot.org/uniprotkb/P50481" } ] } ] } ], "record_id": "P50481-1" }, { "uniprot_canonical_ac": "Q8BUV6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BUV6", "url": "https://www.uniprot.org/uniprotkb/Q8BUV6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 361, "chemical_mass": 39907.0, "gene_names": "Lsm11;2210404M20Rik;Lsm11", "protein_name": "U7 snRNA-associated Sm-like protein LSm11", "disease": [ { "disease_id": "DOID:0050629", "name": "Aicardi-Goutieres syndrome", "description": "A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.", "url": "https://disease-ontology.org/term/DOID:0050629", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "histone pre-mRNA 3'end processing complex", "id": "GO:0071204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071204", "evidence": [ { "database": "UniProtKB", "id": "Q8BUV6", "url": "https://www.uniprot.org/uniprotkb/Q8BUV6" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BUV6", "url": "https://www.uniprot.org/uniprotkb/Q8BUV6" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BUV6", "url": "https://www.uniprot.org/uniprotkb/Q8BUV6" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q8BUV6", "url": "https://www.uniprot.org/uniprotkb/Q8BUV6" } ], "pmid": "" }, { "name": "telomerase holoenzyme complex", "id": "GO:0005697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005697", "evidence": [ { "database": "UniProtKB", "id": "Q8BUV6", "url": "https://www.uniprot.org/uniprotkb/Q8BUV6" } ], "pmid": "" }, { "name": "U7 snRNP", "id": "GO:0005683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005683", "evidence": [ { "database": "UniProtKB", "id": "Q8BUV6", "url": "https://www.uniprot.org/uniprotkb/Q8BUV6" } ], "pmid": "" } ], "biological_process": [ { "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": "Q8BUV6", "url": "https://www.uniprot.org/uniprotkb/Q8BUV6" } ], "pmid": "" }, { "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": "Q8BUV6", "url": "https://www.uniprot.org/uniprotkb/Q8BUV6" } ], "pmid": "" }, { "name": "regulation of chromatin organization", "id": "GO:1902275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902275", "evidence": [ { "database": "UniProtKB", "id": "Q8BUV6", "url": "https://www.uniprot.org/uniprotkb/Q8BUV6" } ], "pmid": "" } ], "molecular_function": [ { "name": "U7 snRNA binding", "id": "GO:0071209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071209", "evidence": [ { "database": "UniProtKB", "id": "Q8BUV6", "url": "https://www.uniprot.org/uniprotkb/Q8BUV6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BUV6-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Thr105", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 105, "start_aa": "Thr", "end_pos": 105, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr105", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BUV6-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Ser155", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BUV6", "url": "https://www.uniprot.org/uniprotkb/Q8BUV6" } ] } ] }, { "uniprot_canonical_ac": "Q8BUV6-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Ser15", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BUV6", "url": "https://www.uniprot.org/uniprotkb/Q8BUV6" } ] } ] }, { "uniprot_canonical_ac": "Q8BUV6-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ser21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BUV6", "url": "https://www.uniprot.org/uniprotkb/Q8BUV6" } ] } ] }, { "uniprot_canonical_ac": "Q8BUV6-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Ser281", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BUV6", "url": "https://www.uniprot.org/uniprotkb/Q8BUV6" } ] } ] } ], "record_id": "Q8BUV6-1" }, { "uniprot_canonical_ac": "Q8VCF0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 503, "chemical_mass": 53399.0, "gene_names": "Mavs;D430028G21Rik;IPS-1;Ips1;Mavs;Visa;cardif", "protein_name": "Mitochondrial antiviral-signaling protein", "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": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "cellular response to exogenous dsRNA", "id": "GO:0071360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071360", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "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": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "positive regulation of response to cytokine stimulus", "id": "GO:0060760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060760", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "protein localization to mitochondrion", "id": "GO:0070585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070585", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "regulation of peroxisome organization", "id": "GO:1900063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900063", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "NLRP3 inflammasome complex assembly", "id": "GO:0044546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044546", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "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": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "protein tetramerization", "id": "GO:0051262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051262", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "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": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "negative regulation of viral genome replication", "id": "GO:0045071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045071", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "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": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "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": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "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": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "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": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "activation of innate immune response", "id": "GO:0002218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002218", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "cellular response to interferon-beta", "id": "GO:0035458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035458", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "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": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "positive regulation of chemokine (C-C motif) ligand 5 production", "id": "GO:0071651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071651", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "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": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "mRNA transcription", "id": "GO:0009299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009299", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "RIG-I signaling pathway", "id": "GO:0039529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039529", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "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": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "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": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "positive regulation of IP-10 production", "id": "GO:0071660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071660", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "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": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "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": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "antiviral innate immune response", "id": "GO:0140374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140374", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "CARD domain binding", "id": "GO:0050700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050700", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "protein serine/threonine kinase binding", "id": "GO:0120283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120283", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Ser104", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 104, "start_aa": "Ser", "end_pos": 104, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser104", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q8VCF0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VCF0" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "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": "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" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Ser118", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 118, "start_aa": "Ser", "end_pos": 118, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser118", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q8VCF0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VCF0" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "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": "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" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "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": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q8VCF0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VCF0" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "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": "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": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Thr215", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 215, "start_aa": "Thr", "end_pos": 215, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr215", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q8VCF0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VCF0" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "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": "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": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Ser220", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 220, "start_aa": "Ser", "end_pos": 220, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser220", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q8VCF0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VCF0" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "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": "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" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Thr222", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 222, "start_aa": "Thr", "end_pos": 222, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr222", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q8VCF0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VCF0" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "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": "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" } ] }, { "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": 222, "start_aa": "Thr", "end_pos": 222, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr222", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Ser244", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 244, "start_aa": "Ser", "end_pos": 244, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser244", "evidence": [ { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ser247", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 247, "start_aa": "Ser", "end_pos": 247, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser247", "evidence": [ { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "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": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q8VCF0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VCF0" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "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": "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": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "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": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Thr277", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 277, "start_aa": "Thr", "end_pos": 277, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr277", "evidence": [ { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "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": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Thr280", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 280, "start_aa": "Thr", "end_pos": 280, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr280", "evidence": [ { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Ser282", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 282, "start_aa": "Ser", "end_pos": 282, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser282", "evidence": [ { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Thr284", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 284, "start_aa": "Thr", "end_pos": 284, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr284", "evidence": [ { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" }, { "id": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "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": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q8VCF0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VCF0" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "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": "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": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" }, { "id": "31616917", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31616917" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "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": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "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": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "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": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q8VCF0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VCF0" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "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": "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": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "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": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q8VCF0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VCF0" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "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": "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": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "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": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q8VCF0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VCF0" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "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": "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" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "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": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q8VCF0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VCF0" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "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": "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": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Thr373", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 373, "start_aa": "Thr", "end_pos": 373, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr373", "evidence": [ { "id": "29187734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29187734" }, { "id": "Q8VCF0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VCF0" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "28528544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28528544" }, { "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": "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": "Q8VCF0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VCF0" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Ser152", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" }, { "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": "Q8VCF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Ser157", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Ser172", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VCF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Ser186", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Ser251", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Ser256", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Ser384", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" }, { "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": "Q8VCF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Ser418", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCF0", "url": "https://www.uniprot.org/uniprotkb/Q8VCF0" } ] } ] }, { "uniprot_canonical_ac": "Q8VCF0-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Thr54", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q8VCF0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VCF0" }, { "database": "PubMed", "id": "28934360", "url": "https://glygen.org/publication/PubMed/28934360" } ] } ] } ], "record_id": "Q8VCF0-1" }, { "uniprot_canonical_ac": "Q922Q8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q922Q8", "url": "https://www.uniprot.org/uniprotkb/Q922Q8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 307, "chemical_mass": 34877.0, "gene_names": "Lrrc59;Lrrc59", "protein_name": "Leucine-rich repeat-containing protein 59", "disease": [], "cellular_component": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q922Q8", "url": "https://www.uniprot.org/uniprotkb/Q922Q8" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q922Q8", "url": "https://www.uniprot.org/uniprotkb/Q922Q8" } ], "pmid": "" }, { "name": "mitochondrial nucleoid", "id": "GO:0042645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042645", "evidence": [ { "database": "UniProtKB", "id": "Q922Q8", "url": "https://www.uniprot.org/uniprotkb/Q922Q8" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q922Q8", "url": "https://www.uniprot.org/uniprotkb/Q922Q8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q922Q8-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Ser23", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922Q8", "url": "https://www.uniprot.org/uniprotkb/Q922Q8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q922Q8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q922Q8" } ] } ] }, { "uniprot_canonical_ac": "Q922Q8-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Ser25", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922Q8", "url": "https://www.uniprot.org/uniprotkb/Q922Q8" } ] } ] } ], "record_id": "Q922Q8-1" }, { "uniprot_canonical_ac": "Q99MV5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1187, "chemical_mass": 132792.0, "gene_names": "Mov10l1;CHAMP;Champ;Csm;Mov10l1", "protein_name": "RNA helicase Mov10l1", "disease": [ { "disease_id": "DOID:0070572", "name": "spermatogenic failure 73", "description": "A spermatogenic failure characterized by nonobstructive azoospermia due to meiotic arrest that has_material_basis_in homozygous or compound heterozygous mutation in the MOV10L1 gene on chromosome 22q13.33.", "url": "https://disease-ontology.org/term/DOID:0070572", "evidence": [ { "id": "0070572", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070572" } ], "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 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" }, { "name": "piRNA binding", "id": "GO:0034584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034584", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" }, { "name": "RNA helicase activity", "id": "GO:0003724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003724", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" }, { "name": "helicase activity", "id": "GO:0004386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004386", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" }, { "name": "pi-body", "id": "GO:0071546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071546", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" }, { "name": "P granule", "id": "GO:0043186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043186", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" }, { "name": "male meiotic nuclear division", "id": "GO:0007140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007140", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "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": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" }, { "name": "piRNA processing", "id": "GO:0034587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034587", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" }, { "name": "male meiosis I", "id": "GO:0007141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007141", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "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": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99MV5-1", "start_pos": "778", "end_pos": "778", "site_lbl": "Lys778", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of RNA helicase activity. Homozygous knockin male mice are sterile and display meiotic arrest at the zygotene-like stage of prophase I. LINE1 retrotransposons are derepressed and piRNA biogenesis is abolished.", "evidence": [ { "database": "UniProtKB", "id": "Q99MV5", "url": "https://www.uniprot.org/uniprotkb/Q99MV5" }, { "database": "PubMed", "id": "25762440", "url": "https://glygen.org/publication/PubMed/25762440" } ] } ] } ], "record_id": "Q99MV5-1" }, { "uniprot_canonical_ac": "Q9D6I9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D6I9", "url": "https://www.uniprot.org/uniprotkb/Q9D6I9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 239, "chemical_mass": 25830.0, "gene_names": "Lurap1;1520402A15Rik;Lrap35a;Lrp35a;Lurap1", "protein_name": "Leucine rich adaptor protein 1", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9D6I9", "url": "https://www.uniprot.org/uniprotkb/Q9D6I9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9D6I9", "url": "https://www.uniprot.org/uniprotkb/Q9D6I9" } ], "pmid": "" }, { "name": "actomyosin", "id": "GO:0042641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042641", "evidence": [ { "database": "UniProtKB", "id": "Q9D6I9", "url": "https://www.uniprot.org/uniprotkb/Q9D6I9" } ], "pmid": "" } ], "biological_process": [ { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9D6I9", "url": "https://www.uniprot.org/uniprotkb/Q9D6I9" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "Q9D6I9", "url": "https://www.uniprot.org/uniprotkb/Q9D6I9" } ], "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": "Q9D6I9", "url": "https://www.uniprot.org/uniprotkb/Q9D6I9" } ], "pmid": "" }, { "name": "actomyosin structure organization", "id": "GO:0031032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031032", "evidence": [ { "database": "UniProtKB", "id": "Q9D6I9", "url": "https://www.uniprot.org/uniprotkb/Q9D6I9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D6I9-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Ser118", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D6I9", "url": "https://www.uniprot.org/uniprotkb/Q9D6I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D6I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D6I9" } ] } ] }, { "uniprot_canonical_ac": "Q9D6I9-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Ser126", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D6I9", "url": "https://www.uniprot.org/uniprotkb/Q9D6I9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9D6I9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9D6I9" } ] } ] }, { "uniprot_canonical_ac": "Q9D6I9-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Ser129", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D6I9", "url": "https://www.uniprot.org/uniprotkb/Q9D6I9" } ] } ] } ], "record_id": "Q9D6I9-1" }, { "uniprot_canonical_ac": "Q9Z2Z6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Z6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Z6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 301, "chemical_mass": 33027.0, "gene_names": "Slc25a20;1110007P09Rik;CAC;Cact;Cac;Slc25a20;mCAC", "protein_name": "Mitochondrial carnitine/acylcarnitine carrier protein", "disease": [ { "disease_id": "DOID:0111585", "name": "carnitine-acylcarnitine translocase deficiency", "description": "A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31.", "url": "https://disease-ontology.org/term/DOID:0111585", "evidence": [ { "id": "0111585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111585" } ], "weight": 0.0 }, { "disease_id": "DOID:3146", "name": "lipid metabolism disorder", "description": "An inherited metabolic disorder that involves the creation and degradation of lipids.", "url": "https://disease-ontology.org/term/DOID:3146", "evidence": [ { "id": "3146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3146" } ], "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": "Q9Z2Z6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Z6" } ], "pmid": "" }, { "name": "mitochondrial transport", "id": "GO:0006839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006839", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Z6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Z6" } ], "pmid": "" }, { "name": "carnitine shuttle", "id": "GO:0006853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006853", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Z6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Z6" } ], "pmid": "" }, { "name": "carnitine transmembrane transport", "id": "GO:1902603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902603", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Z6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Z6" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Z6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Z6" } ], "pmid": "" }, { "name": "mitochondrial envelope", "id": "GO:0005740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005740", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Z6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Z6" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Z6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Z6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Z6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Z6" } ], "pmid": "" } ], "molecular_function": [ { "name": "carnitine:O-acyl-L-carnitine antiporter activity", "id": "GO:0005476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005476", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Z6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Z6" } ], "pmid": "" }, { "name": "O-acyl-L-carnitine transmembrane transporter activity", "id": "GO:0015227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015227", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2Z6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2Z6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9Z2Z6-1" }, { "uniprot_canonical_ac": "P33033-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 323, "chemical_mass": 35806.0, "gene_names": "Mc3r;MC3-R;Mc3r", "protein_name": "Melanocortin receptor 3", "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": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "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": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "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": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "pmid": "" }, { "name": "regulation of feeding behavior", "id": "GO:0060259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060259", "evidence": [ { "database": "UniProtKB", "id": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "pmid": "" }, { "name": "locomotor rhythm", "id": "GO:0045475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045475", "evidence": [ { "database": "UniProtKB", "id": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "pmid": "" }, { "name": "sodium ion homeostasis", "id": "GO:0055078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055078", "evidence": [ { "database": "UniProtKB", "id": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "pmid": "" }, { "name": "homoiothermy", "id": "GO:0042309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042309", "evidence": [ { "database": "UniProtKB", "id": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "pmid": "" }, { "name": "peptide hormone binding", "id": "GO:0017046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017046", "evidence": [ { "database": "UniProtKB", "id": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "pmid": "" }, { "name": "melanocortin receptor activity", "id": "GO:0004977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004977", "evidence": [ { "database": "UniProtKB", "id": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "pmid": "" }, { "name": "corticotropin receptor activity", "id": "GO:0004978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004978", "evidence": [ { "database": "UniProtKB", "id": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "pmid": "" }, { "name": "neuropeptide binding", "id": "GO:0042923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042923", "evidence": [ { "database": "UniProtKB", "id": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "pmid": "" }, { "name": "melanocyte-stimulating hormone receptor activity", "id": "GO:0004980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004980", "evidence": [ { "database": "UniProtKB", "id": "P33033", "url": "https://www.uniprot.org/uniprotkb/P33033" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P33033-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Asn16", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 16, "start_aa": "Asn", "end_pos": 16, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn16", "evidence": [ { "id": "P33033", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P33033#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P33033-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Asn28", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 28, "start_aa": "Asn", "end_pos": 28, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn28", "evidence": [ { "id": "P33033", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P33033#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P33033-1", "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": "P33033", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P33033#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P33033-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ser18", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLS->NLA).", "chr_id": "2", "chr_pos": "172090831", "evidence": [ { "id": "rs3388611653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611653" } ] } ] } ], "record_id": "P33033-1" }, { "uniprot_canonical_ac": "Q3UMW7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 384, "chemical_mass": 43293.0, "gene_names": "Mapkapk3;3PK;MAPKAP-K3;MAPKAP3;MK-3;MK3;MapkKapk3;Mapkapk3", "protein_name": "MAP kinase-activated protein kinase 3", "disease": [ { "disease_id": "DOID:0060865", "name": "patterned macular dystrophy 3", "description": "A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21.", "url": "https://disease-ontology.org/term/DOID:0060865", "evidence": [ { "id": "0060865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060865" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "calcium-dependent protein serine/threonine kinase activity", "id": "GO:0009931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009931", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ], "pmid": "" }, { "name": "mitogen-activated protein kinase binding", "id": "GO:0051019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051019", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ], "pmid": "" }, { "name": "calcium/calmodulin-dependent protein kinase activity", "id": "GO:0004683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004683", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ], "pmid": "" } ], "biological_process": [ { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ], "pmid": "" }, { "name": "toll-like receptor signaling pathway", "id": "GO:0002224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002224", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ], "pmid": "" }, { "name": "macropinocytosis", "id": "GO:0044351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044351", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UMW7-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Thr203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" }, { "database": "iPTMnet", "id": "Q3UMW7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UMW7" }, { "database": "PubMed", "id": "20570725", "url": "https://glygen.org/publication/PubMed/20570725" }, { "database": "PubMed", "id": "17030606", "url": "https://glygen.org/publication/PubMed/17030606" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Prevents degradation of isoform 3.", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" }, { "database": "PubMed", "id": "20570725", "url": "https://glygen.org/publication/PubMed/20570725" } ] } ] }, { "uniprot_canonical_ac": "Q3UMW7-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Ser253", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ] } ] }, { "uniprot_canonical_ac": "Q3UMW7-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ser309", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ] } ] }, { "uniprot_canonical_ac": "Q3UMW7-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Thr315", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UMW7", "url": "https://www.uniprot.org/uniprotkb/Q3UMW7" } ] } ] } ], "record_id": "Q3UMW7-1" }, { "uniprot_canonical_ac": "Q8CIV2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CIV2", "url": "https://www.uniprot.org/uniprotkb/Q8CIV2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 574, "chemical_mass": 63561.0, "gene_names": "Tmem259;AC087114.7gm2;ORF61;R32184_3;Tmem259;mFLJ00277", "protein_name": "Membralin", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8CIV2", "url": "https://www.uniprot.org/uniprotkb/Q8CIV2" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8CIV2", "url": "https://www.uniprot.org/uniprotkb/Q8CIV2" } ], "pmid": "" } ], "biological_process": [ { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q8CIV2", "url": "https://www.uniprot.org/uniprotkb/Q8CIV2" } ], "pmid": "" }, { "name": "positive regulation of ERAD pathway", "id": "GO:1904294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904294", "evidence": [ { "database": "UniProtKB", "id": "Q8CIV2", "url": "https://www.uniprot.org/uniprotkb/Q8CIV2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CIV2-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Asn117", "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": "VEVRHNSSR", "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": "Q8CIV2-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Asn180", "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": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2506", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2506" } ] }, { "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": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2506", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2506" } ] }, { "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": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2506", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2506" } ] }, { "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": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2506", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2506" } ] }, { "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": 180, "start_aa": "Asn", "end_pos": 180, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn180", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2506", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2506" } ] }, { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VFKPQSGADALNDSQDFPFPETPAK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "Q8CIV2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CIV2#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "Q8CIV2-1", "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": "Q8CIV2-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Thr500", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 500, "start_aa": "Thr", "end_pos": 500, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr500", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q8CIV2-1" }, { "uniprot_canonical_ac": "Q9WVQ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1275, "chemical_mass": 140919.0, "gene_names": "Magi2;AIP-1;Acvri1;Acvrinp1;Acvrip1;Aip1;Arip1;Magi-2;Magi2;S-SCAM;mKIAA0705", "protein_name": "Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2", "disease": [ { "disease_id": "DOID:0080271", "name": "nephrotic syndrome type 15", "description": "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21.", "url": "https://disease-ontology.org/term/DOID:0080271", "evidence": [ { "id": "0080271", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080271" } ], "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": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "extrinsic component of postsynaptic membrane", "id": "GO:0098890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098890", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": "GO:0001917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "slit diaphragm", "id": "GO:0036057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036057", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" } ], "molecular_function": [ { "name": "type II activin receptor binding", "id": "GO:0070699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070699", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "kinesin binding", "id": "GO:0019894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019894", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "signaling receptor complex adaptor activity", "id": "GO:0030159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030159", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "phosphatase binding", "id": "GO:0019902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019902", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "beta-1 adrenergic receptor binding", "id": "GO:0031697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031697", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "activin receptor binding", "id": "GO:0070697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070697", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "structural constituent of postsynaptic density", "id": "GO:0098919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098919", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "structural constituent of postsynaptic specialization", "id": "GO:0098879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098879", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "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": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "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": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "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": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "clathrin-dependent endocytosis", "id": "GO:0072583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072583", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "negative regulation of activin receptor signaling pathway", "id": "GO:0032926", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032926", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "positive regulation of receptor internalization", "id": "GO:0002092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002092", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "receptor clustering", "id": "GO:0043113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043113", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "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": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "regulation of synaptic membrane adhesion", "id": "GO:0099179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099179", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "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": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "podocyte development", "id": "GO:0072015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072015", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "neuroligin clustering involved in postsynaptic membrane assembly", "id": "GO:0097118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097118", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "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": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "nerve growth factor signaling pathway", "id": "GO:0038180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038180", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" }, { "name": "postsynapse organization", "id": "GO:0099173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099173", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WVQ1-1", "start_pos": "1193", "end_pos": "1193", "site_lbl": "Ser1193", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1193, "start_aa": "Ser", "end_pos": 1193, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1193", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9WVQ1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9WVQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9WVQ1-1", "start_pos": "1194", "end_pos": "1194", "site_lbl": "Thr1194", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1194, "start_aa": "Thr", "end_pos": 1194, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1194", "evidence": [ { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9WVQ1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9WVQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9WVQ1-1", "start_pos": "1261", "end_pos": "1261", "site_lbl": "Thr1261", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1261, "start_aa": "Thr", "end_pos": 1261, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1261", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9WVQ1-1", "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": "Q9WVQ1-1", "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": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q9WVQ1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9WVQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9WVQ1-1", "start_pos": "1013", "end_pos": "1013", "site_lbl": "Ser1013", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WVQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9WVQ1-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Tyr361", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" }, { "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": "Q9WVQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9WVQ1-1", "start_pos": "685", "end_pos": "685", "site_lbl": "Ser685", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9WVQ1-1", "start_pos": "826", "end_pos": "826", "site_lbl": "Tyr826", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "Q9WVQ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WVQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9WVQ1-1", "start_pos": "883", "end_pos": "883", "site_lbl": "Ser883", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9WVQ1-1", "start_pos": "884", "end_pos": "884", "site_lbl": "Ser884", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" } ] } ] }, { "uniprot_canonical_ac": "Q9WVQ1-1", "start_pos": "706", "end_pos": "706", "site_lbl": "Ser706", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "5", "chr_pos": "20739375", "evidence": [ { "id": "rs3388728338", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388728338" } ] } ] }, { "uniprot_canonical_ac": "Q9WVQ1-1", "start_pos": "1152", "end_pos": "1152", "site_lbl": "Ser1152", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect interaction with USH1G.", "evidence": [ { "database": "UniProtKB", "id": "Q9WVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9WVQ1" }, { "database": "PubMed", "id": "24608321", "url": "https://glygen.org/publication/PubMed/24608321" } ] } ] } ], "record_id": "Q9WVQ1-1" }, { "uniprot_canonical_ac": "Q8CEE6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1383, "chemical_mass": 151250.0, "gene_names": "Pask;Kiaa0135;Pask;mKIAA0135", "protein_name": "PAS domain-containing serine/threonine-protein kinase", "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": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ], "pmid": "" }, { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ], "pmid": "" } ], "biological_process": [ { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ], "pmid": "" }, { "name": "regulation of respiratory gaseous exchange", "id": "GO:0043576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043576", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ], "pmid": "" }, { "name": "regulation of glucagon secretion", "id": "GO:0070092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070092", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ], "pmid": "" }, { "name": "negative regulation of glycogen biosynthetic process", "id": "GO:0045719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045719", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CEE6-1", "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": "Q8CEE6-1", "start_pos": "1000", "end_pos": "1000", "site_lbl": "Ser1000", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ] } ] }, { "uniprot_canonical_ac": "Q8CEE6-1", "start_pos": "1221", "end_pos": "1221", "site_lbl": "Thr1221", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ] } ] }, { "uniprot_canonical_ac": "Q8CEE6-1", "start_pos": "1225", "end_pos": "1225", "site_lbl": "Thr1225", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" } ] } ] }, { "uniprot_canonical_ac": "Q8CEE6-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Ser19", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CEE6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CEE6" } ] } ] }, { "uniprot_canonical_ac": "Q8CEE6-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Thr31", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CEE6", "url": "https://www.uniprot.org/uniprotkb/Q8CEE6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8CEE6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CEE6" } ] } ] }, { "uniprot_canonical_ac": "Q8CEE6-1", "start_pos": "519", "end_pos": "519", "site_lbl": "Asp519", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "1", "chr_pos": "93249844", "evidence": [ { "id": "rs3388489395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388489395" } ] } ] }, { "uniprot_canonical_ac": "Q8CEE6-1", "start_pos": "869", "end_pos": "869", "site_lbl": "Asp869", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "1", "chr_pos": "93248794", "evidence": [ { "id": "rs234797486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234797486" } ] } ] } ], "record_id": "Q8CEE6-1" }, { "uniprot_canonical_ac": "Q9EPC1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 372, "chemical_mass": 42330.0, "gene_names": "Parva;2010012A22Rik;5430400F08Rik;Actp;CH-ILKBP;MNCb-0301;Parva;Parvin", "protein_name": "Alpha-parvin", "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": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "protein kinase inhibitor activity", "id": "GO:0004860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004860", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "substrate adhesion-dependent cell spreading", "id": "GO:0034446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034446", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "actin filament network formation", "id": "GO:0051639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051639", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "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": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "heterotypic cell-cell adhesion", "id": "GO:0034113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034113", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "smooth muscle cell chemotaxis", "id": "GO:0071670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071670", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity regulating cell shape", "id": "GO:0071963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071963", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" }, { "name": "actin-mediated cell contraction", "id": "GO:0070252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070252", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EPC1-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Asn165", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G29299MO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "INETLKLPPR", "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": "Q9EPC1-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Ser14", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q9EPC1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EPC1" } ] } ] }, { "uniprot_canonical_ac": "Q9EPC1-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Ser19", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q9EPC1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EPC1" } ] } ] }, { "uniprot_canonical_ac": "Q9EPC1-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Ser28", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ] } ] }, { "uniprot_canonical_ac": "Q9EPC1-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Ser62", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" } ] } ] }, { "uniprot_canonical_ac": "Q9EPC1-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Ser8", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPC1", "url": "https://www.uniprot.org/uniprotkb/Q9EPC1" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q9EPC1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EPC1" } ] } ] } ], "record_id": "Q9EPC1-1" }, { "uniprot_canonical_ac": "O08908-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 722, "chemical_mass": 81266.0, "gene_names": "Pik3r2;Pik3r2;p85beta", "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit beta", "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: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: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: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 protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" }, { "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": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "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": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" }, { "name": "intracellular glucose homeostasis", "id": "GO:0001678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001678", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" }, { "name": "regulation of stress fiber assembly", "id": "GO:0051492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051492", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "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": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "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": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" }, { "name": "regulation of actin filament polymerization", "id": "GO:0030833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030833", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphotyrosine residue binding", "id": "GO:0001784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001784", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" }, { "name": "receptor tyrosine kinase binding", "id": "GO:0030971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030971", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "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": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "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": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "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": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O08908-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Tyr458", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "O08908", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O08908" } ] } ] }, { "uniprot_canonical_ac": "O08908-1", "start_pos": "599", "end_pos": "599", "site_lbl": "Tyr599", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ] } ] }, { "uniprot_canonical_ac": "O08908-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Tyr649", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O08908", "url": "https://www.uniprot.org/uniprotkb/O08908" } ] } ] } ], "record_id": "O08908-1" }, { "uniprot_canonical_ac": "O88643-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 545, "chemical_mass": 60737.0, "gene_names": "Pak1;Paka", "protein_name": "Serine/threonine-protein kinase PAK 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: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: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: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: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: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: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 } ], "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": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "regulation of axonogenesis", "id": "GO:0050770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050770", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "negative regulation of cell proliferation involved in contact inhibition", "id": "GO:0060244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060244", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "protein localization to cytoplasmic stress granule", "id": "GO:1903608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903608", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "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": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "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": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "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": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "dendritic spine development", "id": "GO:0060996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060996", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "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": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "transmission of nerve impulse", "id": "GO:0019226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019226", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "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": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "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": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "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": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "positive regulation of microtubule polymerization", "id": "GO:0031116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031116", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "positive regulation of fibroblast migration", "id": "GO:0010763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010763", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "receptor clustering", "id": "GO:0043113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043113", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "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": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "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": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "hepatocyte growth factor receptor signaling pathway", "id": "GO:0048012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048012", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "regulation of MAPK cascade", "id": "GO:0043408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "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": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "positive regulation of microtubule nucleation", "id": "GO:0090063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090063", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "amygdala development", "id": "GO:0021764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021764", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid secretion, neurotransmission", "id": "GO:0061534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061534", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "glutamate secretion, neurotransmission", "id": "GO:0061535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061535", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "observational learning", "id": "GO:0098597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098597", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "regulation of trans-synaptic signaling by endocannabinoid, modulating synaptic transmission", "id": "GO:0150036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150036", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "gamma-tubulin binding", "id": "GO:0043015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043015", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88643-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Asn111", "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": "LLQTSNITK", "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" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Thr212", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 212, "start_aa": "Thr", "end_pos": 212, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr212", "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": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" }, { "database": "PubMed", "id": "12176334", "url": "https://glygen.org/publication/PubMed/12176334" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88643", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Asn227", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G97993TU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DVATSPISPTENNTTPPDALTR", "relation": "attached", "comment": "reported site N226 is on non-canonical isoform G5E884-1 which maps to canonical isoform site O88643-1:227", "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": "O88643-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Ser115", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Tyr131", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Tyr142", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Ser144", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ser149", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Tyr153", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Ser174", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Thr185", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Ser199", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Tyr201", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Ser204", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Thr219", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ser21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Ser220", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88643", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Ser223", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88643", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Thr225", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88643", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Thr229", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88643", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Thr230", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O88643", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Tyr285", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Thr423", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "O88643-1", "kinase_gene_name": "Pak1", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" }, { "database": "iPTMnet", "id": "O88643", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88643" }, { "database": "PubMed", "id": "22669945", "url": "https://glygen.org/publication/PubMed/22669945" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" }, { "database": "iPTMnet", "id": "O88643", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O88643" }, { "database": "PubMed", "id": "22669945", "url": "https://glygen.org/publication/PubMed/22669945" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "E", "comment": "When expressed in hippocampal neurons, increases the density of both spines and dendritic protrusions.", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" }, { "database": "PubMed", "id": "15800193", "url": "https://glygen.org/publication/PubMed/15800193" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Ser57", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Thr84", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "299", "end_pos": "299", "site_lbl": "Lys299", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "When expressed in hippocampal neurons, decreases the number of dendritic spines. Strong decrease in the number of dendritic spines; when associated with L-83 and L-86.", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" }, { "database": "PubMed", "id": "15800193", "url": "https://glygen.org/publication/PubMed/15800193" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "83", "end_pos": "83", "site_lbl": "His83", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "When expressed in hippocampal neurons, strongly decreases the number of dendritic spines; when associated with L-86 and R-299.", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" }, { "database": "PubMed", "id": "15800193", "url": "https://glygen.org/publication/PubMed/15800193" } ] } ] }, { "uniprot_canonical_ac": "O88643-1", "start_pos": "86", "end_pos": "86", "site_lbl": "His86", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "When expressed in hippocampal neurons, strongly decreases the number of dendritic spines; when associated with L-83 and R-299.", "evidence": [ { "database": "UniProtKB", "id": "O88643", "url": "https://www.uniprot.org/uniprotkb/O88643" }, { "database": "PubMed", "id": "15800193", "url": "https://glygen.org/publication/PubMed/15800193" } ] } ] } ], "record_id": "O88643-1" }, { "uniprot_canonical_ac": "Q80YV4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80YV4", "url": "https://www.uniprot.org/uniprotkb/Q80YV4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 820, "chemical_mass": 91522.0, "gene_names": "Pank4;D030031I12Rik;Gm42363;Pank4", "protein_name": "4'-phosphopantetheine phosphatase", "disease": [ { "disease_id": "DOID:3981", "name": "pantothenate kinase-associated neurodegeneration", "description": "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.", "url": "https://disease-ontology.org/term/DOID:3981", "evidence": [ { "id": "3981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3981" } ], "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 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q80YV4", "url": "https://www.uniprot.org/uniprotkb/Q80YV4" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q80YV4", "url": "https://www.uniprot.org/uniprotkb/Q80YV4" } ], "pmid": "" }, { "name": "phosphatase activity", "id": "GO:0016791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016791", "evidence": [ { "database": "UniProtKB", "id": "Q80YV4", "url": "https://www.uniprot.org/uniprotkb/Q80YV4" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q80YV4", "url": "https://www.uniprot.org/uniprotkb/Q80YV4" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q80YV4", "url": "https://www.uniprot.org/uniprotkb/Q80YV4" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q80YV4", "url": "https://www.uniprot.org/uniprotkb/Q80YV4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q80YV4", "url": "https://www.uniprot.org/uniprotkb/Q80YV4" } ], "pmid": "" } ], "biological_process": [ { "name": "coenzyme A biosynthetic process", "id": "GO:0015937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015937", "evidence": [ { "database": "UniProtKB", "id": "Q80YV4", "url": "https://www.uniprot.org/uniprotkb/Q80YV4" } ], "pmid": "" }, { "name": "coenzyme A catabolic process", "id": "GO:0015938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015938", "evidence": [ { "database": "UniProtKB", "id": "Q80YV4", "url": "https://www.uniprot.org/uniprotkb/Q80YV4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80YV4-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Ser393", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YV4", "url": "https://www.uniprot.org/uniprotkb/Q80YV4" } ] } ] }, { "uniprot_canonical_ac": "Q80YV4-1", "start_pos": "404", "end_pos": "404", "site_lbl": "Ser404", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YV4", "url": "https://www.uniprot.org/uniprotkb/Q80YV4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YV4" } ] } ] }, { "uniprot_canonical_ac": "Q80YV4-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Thr406", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YV4", "url": "https://www.uniprot.org/uniprotkb/Q80YV4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80YV4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80YV4" } ] } ] } ], "record_id": "Q80YV4-1" }, { "uniprot_canonical_ac": "Q8C015-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 719, "chemical_mass": 80948.0, "gene_names": "Pak5;2900083L08Rik;PAK-5;PAK-7;Pak5;Pak7", "protein_name": "Serine/threonine-protein kinase PAK 5", "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 } ], "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": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "pmid": "" } ], "biological_process": [ { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "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": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "pmid": "" }, { "name": "regulation of MAPK cascade", "id": "GO:0043408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C015-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Thr107", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 107, "start_aa": "Thr", "end_pos": 107, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr107", "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": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" }, { "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": "Q8C015", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C015" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "2", "chr_pos": "135958767", "evidence": [ { "id": "rs5525751493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525751493" } ] } ] }, { "uniprot_canonical_ac": "Q8C015-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Ser270", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 270, "start_aa": "Ser", "end_pos": 270, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser270", "evidence": [ { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" }, { "id": "Q8C015", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8C015" } ] } ] }, { "uniprot_canonical_ac": "Q8C015-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Asn91", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G95843QZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ETSINGLLEDFDNISVTR", "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": "Q8C015-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Ser104", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C015", "url": "https://www.uniprot.org/uniprotkb/Q8C015" }, { "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": "Q8C015", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C015" } ] } ] } ], "record_id": "Q8C015-1" }, { "uniprot_canonical_ac": "E9PVD3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 3291, "chemical_mass": 346384.0, "gene_names": "Dchs1;3110041P15Rik;C130033F22Rik;CDH25;Dchs1;FIB1;Gm165;PCDH16", "protein_name": "Protocadherin-16", "disease": [ { "disease_id": "DOID:0080585", "name": "Van Maldergem syndrome 1", "description": "A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0080585", "evidence": [ { "id": "0080585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080585" } ], "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 }, { "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": "nephron development", "id": "GO:0072006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072006", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "ossification involved in bone maturation", "id": "GO:0043931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043931", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "condensed mesenchymal cell proliferation", "id": "GO:0072137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072137", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "mitral valve formation", "id": "GO:0003192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003192", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "hippo signaling", "id": "GO:0035329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035329", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "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": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "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": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "mitral valve morphogenesis", "id": "GO:0003183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003183", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "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": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "mitral valve development", "id": "GO:0003174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003174", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "septin cytoskeleton organization", "id": "GO:0032185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032185", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "cell migration involved in endocardial cushion formation", "id": "GO:0003273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003273", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "post-anal tail morphogenesis", "id": "GO:0036342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036342", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "establishment of planar polarity", "id": "GO:0001736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001736", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" } ], "cellular_component": [ { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "catenin complex", "id": "GO:0016342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016342", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9PVD3-1", "start_pos": "1514", "end_pos": "1514", "site_lbl": "Asn1514", "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": "ETTPALLLLVEATDRPANASR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1514, "start_aa": "Asn", "end_pos": 1514, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1514", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "E9PVD3-1", "start_pos": "1989", "end_pos": "1989", "site_lbl": "Asn1989", "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": 1989, "start_aa": "Asn", "end_pos": 1989, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1989", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2648", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2648" } ] }, { "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": 1989, "start_aa": "Asn", "end_pos": 1989, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1989", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2648", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2648" } ] }, { "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": 1989, "start_aa": "Asn", "end_pos": 1989, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1989", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2648", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2648" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DAGANASILYR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1989, "start_aa": "Asn", "end_pos": 1989, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1989", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "E9PVD3-1", "start_pos": "2354", "end_pos": "2354", "site_lbl": "Asn2354", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 2354, "start_aa": "Asn", "end_pos": 2354, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2354", "evidence": [ { "id": "E9PVD3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PVD3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "E9PVD3-1", "start_pos": "2421", "end_pos": "2421", "site_lbl": "Asn2421", "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": "VDPNNGTLFTTVGAMALGHEGPGVVDVVLEAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2421, "start_aa": "Asn", "end_pos": 2421, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2421", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "E9PVD3-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Asn250", "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": "RAQALLDVTLLDINDHAPAFNQSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 250, "start_aa": "Asn", "end_pos": 250, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn250", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "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 (NQS->SQS).", "chr_id": "7", "chr_pos": "105421670", "evidence": [ { "id": "rs3388914166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388914166" } ] } ] }, { "uniprot_canonical_ac": "E9PVD3-1", "start_pos": "2754", "end_pos": "2754", "site_lbl": "Asn2754", "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": 2754, "start_aa": "Asn", "end_pos": 2754, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2754", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2648", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2648" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EAFSLNSSTGELR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2754, "start_aa": "Asn", "end_pos": 2754, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2754", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "E9PVD3-1", "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": "E9PVD3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E9PVD3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "E9PVD3-1", "start_pos": "693", "end_pos": "693", "site_lbl": "Thr693", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 693, "start_aa": "Thr", "end_pos": 693, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr693", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9PVD3-1", "start_pos": "780", "end_pos": "780", "site_lbl": "Thr780", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 780, "start_aa": "Thr", "end_pos": 780, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr780", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9PVD3-1", "start_pos": "940", "end_pos": "940", "site_lbl": "Thr940", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 940, "start_aa": "Thr", "end_pos": 940, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr940", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9PVD3-1", "start_pos": "3048", "end_pos": "3048", "site_lbl": "Ser3048", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9PVD3", "url": "https://www.uniprot.org/uniprotkb/E9PVD3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "E9PVD3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9PVD3" } ] } ] }, { "uniprot_canonical_ac": "E9PVD3-1", "start_pos": "2367", "end_pos": "2367", "site_lbl": "Pro2367", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "7", "chr_pos": "105406132", "evidence": [ { "id": "rs3388935023", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388935023" } ] } ] }, { "uniprot_canonical_ac": "E9PVD3-1", "start_pos": "2521", "end_pos": "2521", "site_lbl": "Gly2521", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRG->NRS).", "chr_id": "7", "chr_pos": "105404980", "evidence": [ { "id": "rs3388937067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388937067" } ] } ] }, { "uniprot_canonical_ac": "E9PVD3-1", "start_pos": "2872", "end_pos": "2872", "site_lbl": "Ser2872", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SGT->NGT).", "chr_id": "7", "chr_pos": "105403926", "evidence": [ { "id": "rs3388924342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924342" } ] } ] }, { "uniprot_canonical_ac": "E9PVD3-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Pro724", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "7", "chr_pos": "105415013", "evidence": [ { "id": "rs3388908514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908514" } ] } ] } ], "record_id": "E9PVD3-1" }, { "uniprot_canonical_ac": "O55134-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O55134", "url": "https://www.uniprot.org/uniprotkb/O55134" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1180, "chemical_mass": 128673.0, "gene_names": "Pcdh12;Pcdh12;Pcdh14;VE-cad-2", "protein_name": "Protocadherin-12", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O55134", "url": "https://www.uniprot.org/uniprotkb/O55134" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O55134", "url": "https://www.uniprot.org/uniprotkb/O55134" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "O55134", "url": "https://www.uniprot.org/uniprotkb/O55134" } ], "pmid": "" } ], "biological_process": [ { "name": "glycogen metabolic process", "id": "GO:0005977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005977", "evidence": [ { "database": "UniProtKB", "id": "O55134", "url": "https://www.uniprot.org/uniprotkb/O55134" } ], "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": "O55134", "url": "https://www.uniprot.org/uniprotkb/O55134" } ], "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": "O55134", "url": "https://www.uniprot.org/uniprotkb/O55134" } ], "pmid": "" }, { "name": "labyrinthine layer development", "id": "GO:0060711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060711", "evidence": [ { "database": "UniProtKB", "id": "O55134", "url": "https://www.uniprot.org/uniprotkb/O55134" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O55134", "url": "https://www.uniprot.org/uniprotkb/O55134" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "O55134", "url": "https://www.uniprot.org/uniprotkb/O55134" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O55134-1", "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": "O55134", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O55134#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->KLT).", "chr_id": "18", "chr_pos": "38416329", "evidence": [ { "id": "rs3412869595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412869595" } ] } ] }, { "uniprot_canonical_ac": "O55134-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Asn415", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "O55134", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O55134#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O55134-1", "start_pos": "582", "end_pos": "582", "site_lbl": "Asn582", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 582, "start_aa": "Asn", "end_pos": 582, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn582", "evidence": [ { "id": "O55134", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O55134#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O55134-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Asn659", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 659, "start_aa": "Asn", "end_pos": 659, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn659", "evidence": [ { "id": "O55134", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O55134#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O55134-1", "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": "O55134", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O55134#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O55134-1", "start_pos": "1064", "end_pos": "1064", "site_lbl": "Ser1064", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O55134", "url": "https://www.uniprot.org/uniprotkb/O55134" } ] } ] }, { "uniprot_canonical_ac": "O55134-1", "start_pos": "859", "end_pos": "859", "site_lbl": "Ser859", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O55134", "url": "https://www.uniprot.org/uniprotkb/O55134" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "O55134", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O55134" } ] } ] } ], "record_id": "O55134-1" }, { "uniprot_canonical_ac": "Q60967-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60967", "url": "https://www.uniprot.org/uniprotkb/Q60967" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 624, "chemical_mass": 70794.0, "gene_names": "Papss1;Asapk;Atpsk1;Papss1;Papss;SK1", "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q60967", "url": "https://www.uniprot.org/uniprotkb/Q60967" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q60967", "url": "https://www.uniprot.org/uniprotkb/Q60967" } ], "pmid": "" }, { "name": "nucleotidyltransferase activity", "id": "GO:0016779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016779", "evidence": [ { "database": "UniProtKB", "id": "Q60967", "url": "https://www.uniprot.org/uniprotkb/Q60967" } ], "pmid": "" }, { "name": "adenylylsulfate kinase activity", "id": "GO:0004020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004020", "evidence": [ { "database": "UniProtKB", "id": "Q60967", "url": "https://www.uniprot.org/uniprotkb/Q60967" } ], "pmid": "" }, { "name": "sulfate adenylyltransferase (ATP) activity", "id": "GO:0004781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004781", "evidence": [ { "database": "UniProtKB", "id": "Q60967", "url": "https://www.uniprot.org/uniprotkb/Q60967" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q60967", "url": "https://www.uniprot.org/uniprotkb/Q60967" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q60967", "url": "https://www.uniprot.org/uniprotkb/Q60967" } ], "pmid": "" }, { "name": "sulfate adenylyltransferase complex (ATP)", "id": "GO:0009336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009336", "evidence": [ { "database": "UniProtKB", "id": "Q60967", "url": "https://www.uniprot.org/uniprotkb/Q60967" } ], "pmid": "" } ], "biological_process": [ { "name": "sulfate assimilation", "id": "GO:0000103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000103", "evidence": [ { "database": "UniProtKB", "id": "Q60967", "url": "https://www.uniprot.org/uniprotkb/Q60967" } ], "pmid": "" }, { "name": "3'-phosphoadenosine 5'-phosphosulfate biosynthetic process", "id": "GO:0050428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050428", "evidence": [ { "database": "UniProtKB", "id": "Q60967", "url": "https://www.uniprot.org/uniprotkb/Q60967" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60967-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Glu107", "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": "3", "chr_pos": "131288287", "evidence": [ { "id": "rs3388659502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388659502" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Phe120", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "3", "chr_pos": "131288324", "evidence": [ { "id": "rs3388662219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388662219" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Thr136", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "3", "chr_pos": "131288373", "evidence": [ { "id": "rs3388666243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388666243" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Phe157", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "3", "chr_pos": "131288906", "evidence": [ { "id": "rs3388665068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388665068" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Arg178", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "3", "chr_pos": "131288968", "evidence": [ { "id": "rs3388659540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388659540" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Pro195", "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": "3", "chr_pos": "131290842", "evidence": [ { "id": "rs3388663228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388663228" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Pro240", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "3", "chr_pos": "131305675", "evidence": [ { "id": "rs3412928495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412928495" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Arg24", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "3", "chr_pos": "131285082", "evidence": [ { "id": "rs3388657671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388657671" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Leu270", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "3", "chr_pos": "131307760", "evidence": [ { "id": "rs3388662601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388662601" } ] }, { "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "3", "chr_pos": "131307761", "evidence": [ { "id": "rs3388659483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388659483" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Thr276", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "3", "chr_pos": "131307779", "evidence": [ { "id": "rs3388662228", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388662228" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Glu315", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "3", "chr_pos": "131311653", "evidence": [ { "id": "rs3388653618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388653618" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Glu318", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "3", "chr_pos": "131311663", "evidence": [ { "id": "rs3388653674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388653674" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Trp356", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "3", "chr_pos": "131311776", "evidence": [ { "id": "rs3388651563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388651563" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Gln372", "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": "3", "chr_pos": "131313102", "evidence": [ { "id": "rs3388668451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388668451" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Gly379", "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": "3", "chr_pos": "131313123", "evidence": [ { "id": "rs3388651629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388651629" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Thr399", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "3", "chr_pos": "131313182", "evidence": [ { "id": "rs3388646327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388646327" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Asp409", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "3", "chr_pos": "131313212", "evidence": [ { "id": "rs3388665130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388665130" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Gly455", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "3", "chr_pos": "131324908", "evidence": [ { "id": "rs3410235946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410235946" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "472", "end_pos": "472", "site_lbl": "His472", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "3", "chr_pos": "131324960", "evidence": [ { "id": "rs3393771301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393771301" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Ala473", "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": "3", "chr_pos": "131324962", "evidence": [ { "id": "rs3388659555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388659555" } ] } ] }, { "uniprot_canonical_ac": "Q60967-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Leu72", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "3", "chr_pos": "131288180", "evidence": [ { "id": "rs3388653653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388653653" } ] } ] } ], "record_id": "Q60967-1" }, { "uniprot_canonical_ac": "Q61183-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 739, "chemical_mass": 82309.0, "gene_names": "Papola;PapIII;Papola;Pap;Plap", "protein_name": "Poly(A) polymerase alpha", "disease": [], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ], "pmid": "" }, { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ], "pmid": "" }, { "name": "poly(A) RNA polymerase activity", "id": "GO:1990817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990817", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ], "pmid": "" }, { "name": "nucleotidyltransferase activity", "id": "GO:0016779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016779", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ], "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": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ], "pmid": "" }, { "name": "cytosolic mRNA polyadenylation", "id": "GO:0180011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0180011", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ], "pmid": "" }, { "name": "co-transcriptional mRNA 3'-end processing, cleavage and polyadenylation pathway", "id": "GO:0180010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0180010", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ], "pmid": "" }, { "name": "RNA 3'-end processing", "id": "GO:0031123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031123", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61183-1", "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": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q61183", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61183" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ] } ] }, { "uniprot_canonical_ac": "Q61183-1", "start_pos": "519", "end_pos": "519", "site_lbl": "Asn519", "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": "LTALNDSSLDLSMDSDNSMSVPSPTSAMK", "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" } ] } ] }, { "uniprot_canonical_ac": "Q61183-1", "start_pos": "539", "end_pos": "539", "site_lbl": "Thr539", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 539, "start_aa": "Thr", "end_pos": 539, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr539", "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": "12", "chr_pos": "105793296", "evidence": [ { "id": "rs3389227844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389227844" } ] } ] }, { "uniprot_canonical_ac": "Q61183-1", "start_pos": "564", "end_pos": "564", "site_lbl": "Thr564", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 564, "start_aa": "Thr", "end_pos": 564, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr564", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q61183-1", "start_pos": "611", "end_pos": "611", "site_lbl": "Thr611", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q61183-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Thr6", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 6, "start_aa": "Thr", "end_pos": 6, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr6", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q61183", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61183" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q61183", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61183" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q61183-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Thr7", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 7, "start_aa": "Thr", "end_pos": 7, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr7", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q61183", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61183" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q61183", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q61183" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q61183-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Ser80", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 80, "start_aa": "Ser", "end_pos": 80, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser80", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q61183", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61183" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q61183-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Ser82", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 82, "start_aa": "Ser", "end_pos": 82, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser82", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q61183", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q61183" }, { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "Q61183-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q61183", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61183" } ] } ] }, { "uniprot_canonical_ac": "Q61183-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Ser537", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" }, { "database": "iPTMnet", "id": "Q61183", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61183" }, { "database": "PubMed", "id": "18084034", "url": "https://glygen.org/publication/PubMed/18084034" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Eliminates MAPK-mediated phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" }, { "database": "PubMed", "id": "18084034", "url": "https://glygen.org/publication/PubMed/18084034" } ] } ] }, { "uniprot_canonical_ac": "Q61183-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Ser558", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ] } ] }, { "uniprot_canonical_ac": "Q61183-1", "start_pos": "732", "end_pos": "732", "site_lbl": "Ser732", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61183", "url": "https://www.uniprot.org/uniprotkb/Q61183" } ] } ] } ], "record_id": "Q61183-1" }, { "uniprot_canonical_ac": "Q8CAS9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 866, "chemical_mass": 96659.0, "gene_names": "Parp9;ARTD9;Bagl;Bal;PARP-9;Parp9", "protein_name": "Protein mono-ADP-ribosyltransferase PARP9", "disease": [], "molecular_function": [ { "name": "STAT family protein binding", "id": "GO:0097677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097677", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "enzyme inhibitor activity", "id": "GO:0004857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004857", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "ubiquitin-like protein ligase binding", "id": "GO:0044389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044389", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "nucleotidyltransferase activity", "id": "GO:0016779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016779", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "NAD+ poly-ADP-ribosyltransferase activity", "id": "GO:0003950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003950", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "ADP-D-ribose binding", "id": "GO:0072570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072570", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "NAD+-protein-C-terminal glycine ADP-ribosyltransferase activity", "id": "GO:0140802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140802", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "glycosyltransferase activity", "id": "GO:0016757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016757", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "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": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "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": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "negative regulation of catalytic activity", "id": "GO:0043086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043086", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "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": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "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": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "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": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "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": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "regulation of response to type II interferon", "id": "GO:0060330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060330", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "positive regulation of type II interferon-mediated signaling pathway", "id": "GO:0060335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060335", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" }, { "name": "site of DNA damage", "id": "GO:0090734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090734", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CAS9-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Ser123", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 123, "start_aa": "Ser", "end_pos": 123, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser123", "evidence": [ { "id": "37453647", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37453647" }, { "id": "Q8CAS9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8CAS9" }, { "id": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "16", "chr_pos": "35774096", "evidence": [ { "id": "rs3389408839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389408839" } ] } ] }, { "uniprot_canonical_ac": "Q8CAS9-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Ser42", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CAS9", "url": "https://www.uniprot.org/uniprotkb/Q8CAS9" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q8CAS9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8CAS9" } ] } ] } ], "record_id": "Q8CAS9-1" }, { "uniprot_canonical_ac": "P61021-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 215, "chemical_mass": 23707.0, "gene_names": "Rab5b;C030027M18Rik;Rab5b", "protein_name": "Ras-related protein Rab-5B", "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: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: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 } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "GTP-dependent protein binding", "id": "GO:0030742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030742", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "GDP binding", "id": "GO:0019003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" } ], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "regulation of endocytosis", "id": "GO:0030100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030100", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "endosome organization", "id": "GO:0007032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007032", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "antigen processing and presentation", "id": "GO:0019882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019882", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" }, { "name": "plasma membrane to endosome transport", "id": "GO:0048227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048227", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P61021-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Ser84", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P61021", "url": "https://www.uniprot.org/uniprotkb/P61021" } ] } ] } ], "record_id": "P61021-1" }, { "uniprot_canonical_ac": "Q8BZA9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 269, "chemical_mass": 29191.0, "gene_names": "Tigar;9630033F20Rik;Tigar", "protein_name": "Fructose-2,6-bisphosphatase TIGAR", "disease": [], "biological_process": [ { "name": "negative regulation of mitophagy", "id": "GO:1901525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901525", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "regulation of pentose-phosphate shunt", "id": "GO:0043456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043456", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "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": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "negative regulation of glycolytic process", "id": "GO:0045820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045820", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "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": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "negative regulation of kinase activity", "id": "GO:0033673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033673", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "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": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "cellular response to cobalt ion", "id": "GO:0071279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071279", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "fructose 2,6-bisphosphate metabolic process", "id": "GO:0006003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006003", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "intestinal epithelial cell development", "id": "GO:0060576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060576", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "regulation of response to DNA damage checkpoint signaling", "id": "GO:1902153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902153", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "positive regulation of hexokinase activity", "id": "GO:1903301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903301", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "negative regulation of glucose catabolic process to lactate via pyruvate", "id": "GO:1904024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904024", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "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": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" } ], "molecular_function": [ { "name": "fructose-2,6-bisphosphate 2-phosphatase activity", "id": "GO:0004331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004331", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BZA9", "url": "https://www.uniprot.org/uniprotkb/Q8BZA9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BZA9-1" }, { "uniprot_canonical_ac": "P58681-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1050, "chemical_mass": 121837.0, "gene_names": "Tlr7;Tlr7", "protein_name": "Toll-like receptor 7", "disease": [ { "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:0081013", "name": "severe COVID-19", "description": "A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, 60 breaths/min in children < 2 months old, 50 in children 211 months old, and 40 in children 15 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs.", "url": "https://disease-ontology.org/term/DOID:0081013", "evidence": [ { "id": "0081013", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081013" } ], "weight": 0.0 }, { "disease_id": "DOID:0112063", "name": "X-Linked immunodeficiency 74", "description": "A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2.", "url": "https://disease-ontology.org/term/DOID:0112063", "evidence": [ { "id": "0112063", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112063" } ], "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: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: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 }, { "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: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: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: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 } ], "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": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "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": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "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": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "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": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "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": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "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": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "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": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "toll-like receptor signaling pathway", "id": "GO:0002224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002224", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "toll-like receptor 7 signaling pathway", "id": "GO:0034154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034154", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "response to cGMP", "id": "GO:0070305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070305", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "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": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "toll-like receptor 8 signaling pathway", "id": "GO:0034158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034158", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "early phagosome", "id": "GO:0032009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032009", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" } ], "molecular_function": [ { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "single-stranded RNA binding", "id": "GO:0003727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003727", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "siRNA binding", "id": "GO:0035197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035197", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P58681-1", "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": "P58681", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58681#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P58681-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Asn190", "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": "NPCNVSYSIEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 190, "start_aa": "Asn", "end_pos": 190, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn190", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 190, "start_aa": "Asn", "end_pos": 190, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn190", "evidence": [ { "id": "P58681", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58681#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P58681-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Asn215", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 215, "start_aa": "Asn", "end_pos": 215, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn215", "evidence": [ { "id": "P58681", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58681#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P58681-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Asn387", "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": "NSSLSVLHK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 387, "start_aa": "Asn", "end_pos": 387, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn387", "evidence": [ { "id": "P58681", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58681#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P58681-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Asn524", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "P58681", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58681#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P58681-1", "start_pos": "535", "end_pos": "535", "site_lbl": "Asn535", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 535, "start_aa": "Asn", "end_pos": 535, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn535", "evidence": [ { "id": "P58681", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58681#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P58681-1", "start_pos": "591", "end_pos": "591", "site_lbl": "Asn591", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 591, "start_aa": "Asn", "end_pos": 591, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn591", "evidence": [ { "id": "P58681", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58681#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P58681-1", "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": "P58681", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58681#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P58681-1", "start_pos": "680", "end_pos": "680", "site_lbl": "Asn680", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 680, "start_aa": "Asn", "end_pos": 680, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn680", "evidence": [ { "id": "P58681", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58681#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P58681-1", "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": "P58681", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58681#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P58681-1", "start_pos": "721", "end_pos": "721", "site_lbl": "Asn721", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 721, "start_aa": "Asn", "end_pos": 721, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn721", "evidence": [ { "id": "P58681", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58681#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P58681-1", "start_pos": "800", "end_pos": "800", "site_lbl": "Asn800", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "P58681", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P58681#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P58681-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Tyr264", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "In kika; mice develop autoimmunity with splenomegaly, multiple autoantibodies, and increased total and activated B cells, germinal centers, plasma cells and memory CD4+ T cells.", "evidence": [ { "database": "UniProtKB", "id": "P58681", "url": "https://www.uniprot.org/uniprotkb/P58681" }, { "database": "PubMed", "id": "35477763", "url": "https://glygen.org/publication/PubMed/35477763" } ] } ] } ], "record_id": "P58681-1" }, { "uniprot_canonical_ac": "Q9WUZ5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WUZ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUZ5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 187, "chemical_mass": 21698.0, "gene_names": "Tnni1;2700018B22Rik;Tnni1;ssTnI", "protein_name": "Troponin I, slow skeletal 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: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: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 } ], "biological_process": [ { "name": "skeletal muscle contraction", "id": "GO:0003009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003009", "evidence": [ { "database": "UniProtKB", "id": "Q9WUZ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUZ5" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "Q9WUZ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUZ5" } ], "pmid": "" }, { "name": "transition between fast and slow fiber", "id": "GO:0014883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014883", "evidence": [ { "database": "UniProtKB", "id": "Q9WUZ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUZ5" } ], "pmid": "" }, { "name": "ventricular cardiac muscle tissue morphogenesis", "id": "GO:0055010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055010", "evidence": [ { "database": "UniProtKB", "id": "Q9WUZ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUZ5" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9WUZ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUZ5" } ], "pmid": "" } ], "cellular_component": [ { "name": "troponin complex", "id": "GO:0005861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005861", "evidence": [ { "database": "UniProtKB", "id": "Q9WUZ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUZ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WUZ5-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ser58", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WUZ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUZ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9WUZ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WUZ5" } ] } ] } ], "record_id": "Q9WUZ5-1" }, { "uniprot_canonical_ac": "P50752-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 301, "chemical_mass": 35825.0, "gene_names": "Tnnt2;Tnnt2;Tnt;cTnT", "protein_name": "Troponin T, 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: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 }, { "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: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:0110308", "name": "hypertrophic cardiomyopathy 2", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2).", "url": "https://disease-ontology.org/term/DOID:0110308", "evidence": [ { "id": "0110308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110308" } ], "weight": 0.0 }, { "disease_id": "DOID:0110426", "name": "dilated cardiomyopathy 1D", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0110426", "evidence": [ { "id": "0110426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110426" } ], "weight": 0.0 }, { "disease_id": "DOID:0111427", "name": "familial restrictive cardiomyopathy 3", "description": "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNT2 gene on chromosome 1q32.1.", "url": "https://disease-ontology.org/term/DOID:0111427", "evidence": [ { "id": "0111427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111427" } ], "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: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: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 }, { "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 } ], "molecular_function": [ { "name": "troponin C binding", "id": "GO:0030172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030172", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "tropomyosin binding", "id": "GO:0005523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005523", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "troponin I binding", "id": "GO:0031013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031013", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" } ], "cellular_component": [ { "name": "cardiac Troponin complex", "id": "GO:1990584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990584", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "striated muscle thin filament", "id": "GO:0005865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005865", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "myofibril", "id": "GO:0030016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030016", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "cardiac myofibril", "id": "GO:0097512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097512", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "troponin complex", "id": "GO:0005861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005861", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" } ], "biological_process": [ { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "muscle filament sliding", "id": "GO:0030049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030049", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "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": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "actin crosslink formation", "id": "GO:0051764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051764", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "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": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "atrial cardiac muscle tissue morphogenesis", "id": "GO:0055009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055009", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "ventricular cardiac muscle tissue morphogenesis", "id": "GO:0055010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055010", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "regulation of muscle filament sliding speed", "id": "GO:0032972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032972", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" }, { "name": "regulation of muscle contraction", "id": "GO:0006937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006937", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P50752-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Thr207", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" }, { "database": "iPTMnet", "id": "P50752", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P50752" }, { "database": "PubMed", "id": "12832403", "url": "https://glygen.org/publication/PubMed/12832403" } ] } ] }, { "uniprot_canonical_ac": "P50752-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Ser211", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" }, { "database": "iPTMnet", "id": "P50752", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P50752" }, { "database": "PubMed", "id": "12832403", "url": "https://glygen.org/publication/PubMed/12832403" } ] } ] }, { "uniprot_canonical_ac": "P50752-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Thr216", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" }, { "database": "iPTMnet", "id": "P50752", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P50752" }, { "database": "PubMed", "id": "12832403", "url": "https://glygen.org/publication/PubMed/12832403" } ] } ] }, { "uniprot_canonical_ac": "P50752-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Thr297", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" }, { "database": "iPTMnet", "id": "P50752", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P50752" }, { "database": "PubMed", "id": "12832403", "url": "https://glygen.org/publication/PubMed/12832403" } ] } ] }, { "uniprot_canonical_ac": "P50752-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P50752", "url": "https://www.uniprot.org/uniprotkb/P50752" } ] } ] } ], "record_id": "P50752-1" }, { "uniprot_canonical_ac": "Q3U145-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U145", "url": "https://www.uniprot.org/uniprotkb/Q3U145" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 381, "chemical_mass": 39815.0, "gene_names": "Tmem64;9630015D15Rik;Tmem64", "protein_name": "Transmembrane protein 64", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q3U145", "url": "https://www.uniprot.org/uniprotkb/Q3U145" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q3U145", "url": "https://www.uniprot.org/uniprotkb/Q3U145" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "Q3U145", "url": "https://www.uniprot.org/uniprotkb/Q3U145" } ], "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": "Q3U145", "url": "https://www.uniprot.org/uniprotkb/Q3U145" } ], "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": "Q3U145", "url": "https://www.uniprot.org/uniprotkb/Q3U145" } ], "pmid": "" }, { "name": "positive regulation of bone resorption", "id": "GO:0045780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045780", "evidence": [ { "database": "UniProtKB", "id": "Q3U145", "url": "https://www.uniprot.org/uniprotkb/Q3U145" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "Q3U145", "url": "https://www.uniprot.org/uniprotkb/Q3U145" } ], "pmid": "" }, { "name": "regulation of ATP-dependent activity", "id": "GO:0043462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043462", "evidence": [ { "database": "UniProtKB", "id": "Q3U145", "url": "https://www.uniprot.org/uniprotkb/Q3U145" } ], "pmid": "" }, { "name": "positive regulation of osteoclast differentiation", "id": "GO:0045672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045672", "evidence": [ { "database": "UniProtKB", "id": "Q3U145", "url": "https://www.uniprot.org/uniprotkb/Q3U145" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3U145-1" }, { "uniprot_canonical_ac": "Q8C3S2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C3S2", "url": "https://www.uniprot.org/uniprotkb/Q8C3S2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1079, "chemical_mass": 118732.0, "gene_names": "Tango6;E330010G16;Kiaa1746;Tango6;Tmco7", "protein_name": "Transport and Golgi organization protein 6 homolog", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8C3S2", "url": "https://www.uniprot.org/uniprotkb/Q8C3S2" } ], "pmid": "" } ], "biological_process": [ { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "Q8C3S2", "url": "https://www.uniprot.org/uniprotkb/Q8C3S2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C3S2-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Ser561", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C3S2", "url": "https://www.uniprot.org/uniprotkb/Q8C3S2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8C3S2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C3S2" } ] } ] } ], "record_id": "Q8C3S2-1" }, { "uniprot_canonical_ac": "Q923U0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 474, "chemical_mass": 52695.0, "gene_names": "Tom1l1;2310045L10Rik;Srcasm;Tom1l1", "protein_name": "TOM1-like protein 1", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "pmid": "" }, { "name": "Golgi stack", "id": "GO:0005795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005795", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "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": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "pmid": "" }, { "name": "activation of protein kinase activity", "id": "GO:0032147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032147", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "pmid": "" }, { "name": "negative regulation of mitotic nuclear division", "id": "GO:0045839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045839", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "pmid": "" }, { "name": "positive regulation of protein autophosphorylation", "id": "GO:0031954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031954", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "pmid": "" } ], "molecular_function": [ { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "pmid": "" }, { "name": "protein kinase activator activity", "id": "GO:0030295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030295", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "pmid": "" }, { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "pmid": "" }, { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "pmid": "" }, { "name": "ubiquitin binding", "id": "GO:0043130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043130", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q923U0-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Asn298", "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": "NRTEATR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 298, "start_aa": "Asn", "end_pos": 298, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn298", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q923U0-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Thr300", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 300, "start_aa": "Thr", "end_pos": 300, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr300", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q923U0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q923U0" } ] } ] }, { "uniprot_canonical_ac": "Q923U0-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ser170", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q923U0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q923U0" } ] } ] }, { "uniprot_canonical_ac": "Q923U0-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Ser313", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ] } ] }, { "uniprot_canonical_ac": "Q923U0-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Ser320", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" } ] } ] }, { "uniprot_canonical_ac": "Q923U0-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Tyr457", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" }, { "database": "PubMed", "id": "11711534", "url": "https://glygen.org/publication/PubMed/11711534" }, { "database": "iPTMnet", "id": "Q923U0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q923U0" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes phosphorylation by FYN and interaction with FYN.", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" }, { "database": "PubMed", "id": "11711534", "url": "https://glygen.org/publication/PubMed/11711534" } ] } ] }, { "uniprot_canonical_ac": "Q923U0-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Pro227", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTP->NTS).", "chr_id": "11", "chr_pos": "90561948", "evidence": [ { "id": "rs3402614627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402614627" } ] } ] }, { "uniprot_canonical_ac": "Q923U0-1", "start_pos": "299", "end_pos": "299", "site_lbl": "Arg299", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRT->NPT).", "chr_id": "11", "chr_pos": "90548990", "evidence": [ { "id": "rs27090835", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27090835" } ] } ] }, { "uniprot_canonical_ac": "Q923U0-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Ser344", "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": "90547276", "evidence": [ { "id": "rs251109919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251109919" } ] } ] }, { "uniprot_canonical_ac": "Q923U0-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Tyr392", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Specifically abolishes interaction with GRB2; mild decrease in phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "Q923U0", "url": "https://www.uniprot.org/uniprotkb/Q923U0" }, { "database": "PubMed", "id": "11711534", "url": "https://glygen.org/publication/PubMed/11711534" } ] } ] } ], "record_id": "Q923U0-1" }, { "uniprot_canonical_ac": "Q9CPV0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CPV0", "url": "https://www.uniprot.org/uniprotkb/Q9CPV0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 140, "chemical_mass": 15593.0, "gene_names": "Tmem107;1110004B13Rik;2810049P21Rik;Tmem107", "protein_name": "Transmembrane protein 107", "disease": [ { "disease_id": "DOID:0080253", "name": "Meckel syndrome 13", "description": "A Meckel syndrome that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality and that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0080253", "evidence": [ { "id": "0080253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080253" } ], "weight": 0.0 }, { "disease_id": "DOID:0080254", "name": "orofaciodigital syndrome XVI", "description": "An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0080254", "evidence": [ { "id": "0080254", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080254" } ], "weight": 0.0 } ], "biological_process": [ { "name": "craniofacial suture morphogenesis", "id": "GO:0097094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097094", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV0", "url": "https://www.uniprot.org/uniprotkb/Q9CPV0" } ], "pmid": "" }, { "name": "detection of nodal flow", "id": "GO:0003127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003127", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV0", "url": "https://www.uniprot.org/uniprotkb/Q9CPV0" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV0", "url": "https://www.uniprot.org/uniprotkb/Q9CPV0" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV0", "url": "https://www.uniprot.org/uniprotkb/Q9CPV0" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV0", "url": "https://www.uniprot.org/uniprotkb/Q9CPV0" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV0", "url": "https://www.uniprot.org/uniprotkb/Q9CPV0" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV0", "url": "https://www.uniprot.org/uniprotkb/Q9CPV0" } ], "pmid": "" }, { "name": "neural tube patterning", "id": "GO:0021532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021532", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV0", "url": "https://www.uniprot.org/uniprotkb/Q9CPV0" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV0", "url": "https://www.uniprot.org/uniprotkb/Q9CPV0" } ], "pmid": "" }, { "name": "protein localization to ciliary transition zone", "id": "GO:1904491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904491", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV0", "url": "https://www.uniprot.org/uniprotkb/Q9CPV0" } ], "pmid": "" }, { "name": "cilium organization", "id": "GO:0044782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044782", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV0", "url": "https://www.uniprot.org/uniprotkb/Q9CPV0" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV0", "url": "https://www.uniprot.org/uniprotkb/Q9CPV0" } ], "pmid": "" }, { "name": "MKS complex", "id": "GO:0036038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036038", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV0", "url": "https://www.uniprot.org/uniprotkb/Q9CPV0" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q9CPV0", "url": "https://www.uniprot.org/uniprotkb/Q9CPV0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CPV0-1", "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": "Q9CPV0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9CPV0#ptm_processing" } ] } ] } ], "record_id": "Q9CPV0-1" }, { "uniprot_canonical_ac": "Q8BHE4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 574, "chemical_mass": 59642.0, "gene_names": "Tmem108;B130017P16Rik;Tmem108", "protein_name": "Transmembrane protein 108", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" }, { "name": "somatodendritic compartment", "id": "GO:0036477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036477", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" } ], "biological_process": [ { "name": "retrograde axonal transport", "id": "GO:0008090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008090", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" }, { "name": "cellular response to brain-derived neurotrophic factor stimulus", "id": "GO:1990416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990416", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" }, { "name": "modulation of excitatory postsynaptic potential", "id": "GO:0098815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098815", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" }, { "name": "positive regulation of neurotrophin TRK receptor signaling pathway", "id": "GO:0051388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051388", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" }, { "name": "dendrite extension", "id": "GO:0097484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097484", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "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": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" }, { "name": "dentate gyrus development", "id": "GO:0021542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021542", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" }, { "name": "postsynaptic density organization", "id": "GO:0097106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097106", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE4", "url": "https://www.uniprot.org/uniprotkb/Q8BHE4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BHE4-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Asn201", "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": "NQSSAHLGPKR", "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": "Q8BHE4-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Asn223", "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": "GNFTGSAEPDPSALTPR", "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" } ] } ] }, { "uniprot_canonical_ac": "Q8BHE4-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Thr359", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 359, "start_aa": "Thr", "end_pos": 359, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr359", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BHE4-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Asn445", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G40834TG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LVPAGTWKPGTVANISHVAEGDKPQHR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 445, "start_aa": "Asn", "end_pos": 445, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn445", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "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": "Q8BHE4-1" }, { "uniprot_canonical_ac": "P40142-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 623, "chemical_mass": 67630.0, "gene_names": "Tkt;Tkt;p68", "protein_name": "Transketolase", "disease": [], "biological_process": [ { "name": "pentose-phosphate shunt, non-oxidative branch", "id": "GO:0009052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009052", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "regulation of growth", "id": "GO:0040008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040008", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "pentose-phosphate shunt", "id": "GO:0006098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006098", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "glyceraldehyde-3-phosphate biosynthetic process", "id": "GO:0046166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046166", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "D-xylulose 5-phosphate biosynthetic process", "id": "GO:1901159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901159", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "thiamine pyrophosphate binding", "id": "GO:0030976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030976", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "monosaccharide binding", "id": "GO:0048029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048029", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "transketolase activity", "id": "GO:0004802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004802", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P40142-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Asn344", "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": "NSTFSELFK", "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": "P40142-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Ser104", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ] } ] }, { "uniprot_canonical_ac": "P40142-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Tyr275", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" }, { "database": "PubMed", "id": "18034455", "url": "https://glygen.org/publication/PubMed/18034455" }, { "database": "iPTMnet", "id": "P40142", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P40142" } ] } ] }, { "uniprot_canonical_ac": "P40142-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Thr287", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P40142", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P40142" } ] } ] }, { "uniprot_canonical_ac": "P40142-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Ser295", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ] } ] }, { "uniprot_canonical_ac": "P40142-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Ser345", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P40142", "url": "https://www.uniprot.org/uniprotkb/P40142" } ] } ] } ], "record_id": "P40142-1" }, { "uniprot_canonical_ac": "P19123-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 161, "chemical_mass": 18421.0, "gene_names": "Tnnc1;TnC;Tncc;Tnnc1;cTnC;cTnI;tncc", "protein_name": "Troponin C, slow skeletal and cardiac muscles", "disease": [ { "disease_id": "DOID:0110319", "name": "hypertrophic cardiomyopathy 13", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21.", "url": "https://disease-ontology.org/term/DOID:0110319", "evidence": [ { "id": "0110319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110319" } ], "weight": 0.0 }, { "disease_id": "DOID:0110434", "name": "dilated cardiomyopathy 1Z", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p.", "url": "https://disease-ontology.org/term/DOID:0110434", "evidence": [ { "id": "0110434", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110434" } ], "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": "cardiac muscle cell contraction", "id": "GO:0086003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086003", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" }, { "name": "skeletal muscle contraction", "id": "GO:0003009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003009", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" }, { "name": "muscle filament sliding", "id": "GO:0030049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030049", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" }, { "name": "transition between fast and slow fiber", "id": "GO:0014883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014883", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" }, { "name": "regulation of muscle contraction", "id": "GO:0006937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006937", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "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": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" }, { "name": "diaphragm contraction", "id": "GO:0002086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002086", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" }, { "name": "response to metal ion", "id": "GO:0010038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010038", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" }, { "name": "ventricular cardiac muscle tissue morphogenesis", "id": "GO:0055010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055010", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" }, { "name": "regulation of muscle filament sliding speed", "id": "GO:0032972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032972", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" } ], "molecular_function": [ { "name": "troponin T binding", "id": "GO:0031014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031014", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" }, { "name": "troponin I binding", "id": "GO:0031013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031013", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" } ], "cellular_component": [ { "name": "cardiac Troponin complex", "id": "GO:1990584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990584", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" }, { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" }, { "name": "contractile muscle fiber", "id": "GO:0043292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043292", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" }, { "name": "troponin complex", "id": "GO:0005861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005861", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P19123-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Ser98", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19123", "url": "https://www.uniprot.org/uniprotkb/P19123" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P19123", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P19123" } ] } ] } ], "record_id": "P19123-1" }, { "uniprot_canonical_ac": "Q80W04-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80W04", "url": "https://www.uniprot.org/uniprotkb/Q80W04" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 706, "chemical_mass": 77054.0, "gene_names": "Tmcc2;1110063G11Rik;Kiaa0481;Tmcc2", "protein_name": "Transmembrane and coiled-coil domains protein 2", "disease": [ { "disease_id": "DOID:0050667", "name": "alcohol-related neurodevelopmental disorder", "description": "A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure.", "url": "https://disease-ontology.org/term/DOID:0050667", "evidence": [ { "id": "0050667", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050667" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q80W04", "url": "https://www.uniprot.org/uniprotkb/Q80W04" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q80W04", "url": "https://www.uniprot.org/uniprotkb/Q80W04" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q80W04", "url": "https://www.uniprot.org/uniprotkb/Q80W04" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q80W04", "url": "https://www.uniprot.org/uniprotkb/Q80W04" } ], "pmid": "" } ], "biological_process": [ { "name": "amyloid precursor protein metabolic process", "id": "GO:0042982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042982", "evidence": [ { "database": "UniProtKB", "id": "Q80W04", "url": "https://www.uniprot.org/uniprotkb/Q80W04" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80W04-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Thr48", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 48, "start_aa": "Thr", "end_pos": 48, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr48", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80W04-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Ser435", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80W04", "url": "https://www.uniprot.org/uniprotkb/Q80W04" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80W04", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80W04" } ] } ] }, { "uniprot_canonical_ac": "Q80W04-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Ser461", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80W04", "url": "https://www.uniprot.org/uniprotkb/Q80W04" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80W04", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80W04" } ] } ] }, { "uniprot_canonical_ac": "Q80W04-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Ser467", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80W04", "url": "https://www.uniprot.org/uniprotkb/Q80W04" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80W04", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80W04" } ] } ] }, { "uniprot_canonical_ac": "Q80W04-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Ser500", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80W04", "url": "https://www.uniprot.org/uniprotkb/Q80W04" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80W04", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80W04" } ] } ] }, { "uniprot_canonical_ac": "Q80W04-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80W04", "url": "https://www.uniprot.org/uniprotkb/Q80W04" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80W04", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80W04" } ] } ] } ], "record_id": "Q80W04-1" }, { "uniprot_canonical_ac": "Q8BFY9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BFY9", "url": "https://www.uniprot.org/uniprotkb/Q8BFY9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 898, "chemical_mass": 102357.0, "gene_names": "Tnpo1;D13Ertd688e;IPO2;Kpnb2;MIP1;MIP;TRN;Tnpo1", "protein_name": "Transportin-1", "disease": [ { "disease_id": "DOID:0081262", "name": "intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies", "description": "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0081262", "evidence": [ { "id": "0081262", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081262" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BFY9", "url": "https://www.uniprot.org/uniprotkb/Q8BFY9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BFY9", "url": "https://www.uniprot.org/uniprotkb/Q8BFY9" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8BFY9", "url": "https://www.uniprot.org/uniprotkb/Q8BFY9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BFY9", "url": "https://www.uniprot.org/uniprotkb/Q8BFY9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BFY9", "url": "https://www.uniprot.org/uniprotkb/Q8BFY9" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q8BFY9", "url": "https://www.uniprot.org/uniprotkb/Q8BFY9" } ], "pmid": "" } ], "molecular_function": [ { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q8BFY9", "url": "https://www.uniprot.org/uniprotkb/Q8BFY9" } ], "pmid": "" }, { "name": "nuclear localization sequence binding", "id": "GO:0008139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008139", "evidence": [ { "database": "UniProtKB", "id": "Q8BFY9", "url": "https://www.uniprot.org/uniprotkb/Q8BFY9" } ], "pmid": "" }, { "name": "nuclear import signal receptor activity", "id": "GO:0061608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061608", "evidence": [ { "database": "UniProtKB", "id": "Q8BFY9", "url": "https://www.uniprot.org/uniprotkb/Q8BFY9" } ], "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": "Q8BFY9", "url": "https://www.uniprot.org/uniprotkb/Q8BFY9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BFY9-1" }, { "uniprot_canonical_ac": "Q8BU11-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 619, "chemical_mass": 65961.0, "gene_names": "Tox4;5730589K01Rik;A630040M18;LCP1;Tox4", "protein_name": "TOX high mobility group box family member 4", "disease": [], "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": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ], "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": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ], "pmid": "" }, { "name": "RNA polymerase II promoter clearance", "id": "GO:0001111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001111", "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ], "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": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ], "pmid": "" }, { "name": "PTW/PP1 phosphatase complex", "id": "GO:0072357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072357", "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BU11-1", "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": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8BU11", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BU11" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "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": "Q8BU11", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BU11" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q8BU11-1", "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": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8BU11", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BU11" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "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": "Q8BU11", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BU11" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q8BU11-1", "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": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8BU11", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BU11" } ] } ] }, { "uniprot_canonical_ac": "Q8BU11-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Thr176", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BU11", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BU11" } ] } ] }, { "uniprot_canonical_ac": "Q8BU11-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Ser178", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" }, { "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": "Q8BU11", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BU11" } ] } ] }, { "uniprot_canonical_ac": "Q8BU11-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Ser182", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" }, { "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": "Q8BU11", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BU11" } ] } ] }, { "uniprot_canonical_ac": "Q8BU11-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Thr313", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ] } ] }, { "uniprot_canonical_ac": "Q8BU11-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Ser315", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ] } ] }, { "uniprot_canonical_ac": "Q8BU11-1", "start_pos": "531", "end_pos": "531", "site_lbl": "Ser531", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ] } ] }, { "uniprot_canonical_ac": "Q8BU11-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Ser548", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ] } ] }, { "uniprot_canonical_ac": "Q8BU11-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Ser550", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ] } ] }, { "uniprot_canonical_ac": "Q8BU11-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Ser558", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ] } ] }, { "uniprot_canonical_ac": "Q8BU11-1", "start_pos": "560", "end_pos": "560", "site_lbl": "Ser560", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ] } ] }, { "uniprot_canonical_ac": "Q8BU11-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Ser565", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BU11", "url": "https://www.uniprot.org/uniprotkb/Q8BU11" } ] } ] } ], "record_id": "Q8BU11-1" }, { "uniprot_canonical_ac": "Q9CQG9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 134, "chemical_mass": 14504.0, "gene_names": "Tmem100;1810057C19Rik;Tmem100", "protein_name": "Transmembrane protein 100", "disease": [], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "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": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "pmid": "" }, { "name": "regulation of sensory perception of pain", "id": "GO:0051930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051930", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "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": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "pmid": "" }, { "name": "cellular response to BMP stimulus", "id": "GO:0071773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071773", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "pmid": "" }, { "name": "positive regulation of vasculogenesis", "id": "GO:2001214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001214", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition involved in endocardial cushion formation", "id": "GO:0003198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003198", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "pmid": "" }, { "name": "endocardial cushion development", "id": "GO:0003197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003197", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "pmid": "" }, { "name": "regulation of calcium-mediated signaling", "id": "GO:0050848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050848", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "pmid": "" }, { "name": "arterial endothelial cell differentiation", "id": "GO:0060842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060842", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CQG9-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Ser121", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CQG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQG9" } ] } ] }, { "uniprot_canonical_ac": "Q9CQG9-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Ser15", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQG9", "url": "https://www.uniprot.org/uniprotkb/Q9CQG9" } ] } ] } ], "record_id": "Q9CQG9-1" }, { "uniprot_canonical_ac": "J3QMY9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "J3QMY9", "url": "https://www.uniprot.org/uniprotkb/J3QMY9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 579, "chemical_mass": 63797.0, "gene_names": "Top6bl;Gm960", "protein_name": "Type 2 DNA topoisomerase 6 subunit B-like", "disease": [ { "disease_id": "DOID:3590", "name": "gestational trophoblastic neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:3590", "evidence": [ { "id": "3590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3590" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity", "id": "GO:0003918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003918", "evidence": [ { "database": "UniProtKB", "id": "J3QMY9", "url": "https://www.uniprot.org/uniprotkb/J3QMY9" } ], "pmid": "" } ], "cellular_component": [ { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "J3QMY9", "url": "https://www.uniprot.org/uniprotkb/J3QMY9" } ], "pmid": "" } ], "biological_process": [ { "name": "meiotic DNA double-strand break formation", "id": "GO:0042138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042138", "evidence": [ { "database": "UniProtKB", "id": "J3QMY9", "url": "https://www.uniprot.org/uniprotkb/J3QMY9" } ], "pmid": "" }, { "name": "reciprocal meiotic recombination", "id": "GO:0007131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007131", "evidence": [ { "database": "UniProtKB", "id": "J3QMY9", "url": "https://www.uniprot.org/uniprotkb/J3QMY9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "J3QMY9-1", "start_pos": "562", "end_pos": "562", "site_lbl": "Trp562", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Abolished interaction with REC114; knocking mice are subfertile due to defects in programmed meiotic DNA double-strand break formation.", "evidence": [ { "database": "UniProtKB", "id": "J3QMY9", "url": "https://www.uniprot.org/uniprotkb/J3QMY9" }, { "database": "PubMed", "id": "36396648", "url": "https://glygen.org/publication/PubMed/36396648" } ] } ] } ], "record_id": "J3QMY9-1" }, { "uniprot_canonical_ac": "Q3TBL6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 204, "chemical_mass": 23243.0, "gene_names": "Tnfaip8l3;9930029P06Rik;Gm517;Tnfaip8l3", "protein_name": "Tumor necrosis factor alpha-induced protein 8-like protein 3", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" } ], "pmid": "" } ], "biological_process": [ { "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": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" } ], "pmid": "" }, { "name": "phospholipid transport", "id": "GO:0015914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015914", "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" } ], "pmid": "" }, { "name": "regulation of intracellular signal transduction", "id": "GO:1902531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902531", "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" } ], "pmid": "" }, { "name": "1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate metabolic process", "id": "GO:1902633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902633", "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" } ], "pmid": "" }, { "name": "phosphatidylinositol transfer activity", "id": "GO:0008526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008526", "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3TBL6-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Arg109", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Reduces binding to phosphoinositide; when associated with Gln-93.", "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" }, { "database": "PubMed", "id": "25242044", "url": "https://glygen.org/publication/PubMed/25242044" } ] } ] }, { "uniprot_canonical_ac": "Q3TBL6-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Lys33", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Reduces binding to phosphoinositide; when associated with Gln-34; Gln-38 and Gln-42.", "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" }, { "database": "PubMed", "id": "25242044", "url": "https://glygen.org/publication/PubMed/25242044" } ] } ] }, { "uniprot_canonical_ac": "Q3TBL6-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Lys34", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Reduces binding to phosphoinositide; when associated with Gln-33; Gln-38 and Gln-42.", "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" }, { "database": "PubMed", "id": "25242044", "url": "https://glygen.org/publication/PubMed/25242044" } ] } ] }, { "uniprot_canonical_ac": "Q3TBL6-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Lys38", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Reduces binding to phosphoinositide; when associated with Gln-33; Gln-34 and Gln-42.", "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" }, { "database": "PubMed", "id": "25242044", "url": "https://glygen.org/publication/PubMed/25242044" } ] } ] }, { "uniprot_canonical_ac": "Q3TBL6-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Lys42", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Reduces binding to phosphoinositide; when associated with Gln-33; Gln-34 and Gln-38.", "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" }, { "database": "PubMed", "id": "25242044", "url": "https://glygen.org/publication/PubMed/25242044" } ] } ] }, { "uniprot_canonical_ac": "Q3TBL6-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Leu60", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "Reduces binding to phosphoinositide.", "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" }, { "database": "PubMed", "id": "25242044", "url": "https://glygen.org/publication/PubMed/25242044" } ] } ] }, { "uniprot_canonical_ac": "Q3TBL6-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Arg93", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Reduces binding to phosphoinositide; when associated with Gln-109.", "evidence": [ { "database": "UniProtKB", "id": "Q3TBL6", "url": "https://www.uniprot.org/uniprotkb/Q3TBL6" }, { "database": "PubMed", "id": "25242044", "url": "https://glygen.org/publication/PubMed/25242044" } ] } ] } ], "record_id": "Q3TBL6-1" }, { "uniprot_canonical_ac": "Q8C4Q9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C4Q9", "url": "https://www.uniprot.org/uniprotkb/Q8C4Q9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 181, "chemical_mass": 19879.0, "gene_names": "Tmem154;9930117H01Rik;Tmem154", "protein_name": "Transmembrane protein 154", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8C4Q9", "url": "https://www.uniprot.org/uniprotkb/Q8C4Q9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C4Q9-1", "start_pos": "160", "end_pos": "160", "site_lbl": "Tyr160", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C4Q9", "url": "https://www.uniprot.org/uniprotkb/Q8C4Q9" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q8C4Q9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C4Q9" } ] } ] }, { "uniprot_canonical_ac": "Q8C4Q9-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Ser177", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C4Q9", "url": "https://www.uniprot.org/uniprotkb/Q8C4Q9" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q8C4Q9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8C4Q9" } ] } ] } ], "record_id": "Q8C4Q9-1" }, { "uniprot_canonical_ac": "Q9ERE8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ERE8", "url": "https://www.uniprot.org/uniprotkb/Q9ERE8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 362, "chemical_mass": 37786.0, "gene_names": "Tlnrd1;Mesdc1;Tlnrd1", "protein_name": "Talin rod domain-containing 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": "Q9ERE8", "url": "https://www.uniprot.org/uniprotkb/Q9ERE8" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9ERE8", "url": "https://www.uniprot.org/uniprotkb/Q9ERE8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9ERE8-1", "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" } ] } ] } ], "record_id": "Q9ERE8-1" }, { "uniprot_canonical_ac": "A2A8U2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 664, "chemical_mass": 72500.0, "gene_names": "Tmem201;D4Ertd429e;Net5;Samp1;Tmem201", "protein_name": "Transmembrane protein 201", "disease": [], "biological_process": [ { "name": "protein localization to nuclear envelope", "id": "GO:0090435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090435", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ], "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": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ], "pmid": "" }, { "name": "nuclear envelope organization", "id": "GO:0006998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006998", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ], "pmid": "" }, { "name": "fibroblast migration", "id": "GO:0010761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010761", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ], "pmid": "" }, { "name": "centrosome localization", "id": "GO:0051642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051642", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ], "pmid": "" }, { "name": "nuclear migration", "id": "GO:0007097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007097", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ], "pmid": "" }, { "name": "nuclear migration along microtubule", "id": "GO:0030473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030473", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ], "pmid": "" }, { "name": "nuclear inner membrane", "id": "GO:0005637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005637", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ], "pmid": "" }, { "name": "lamin binding", "id": "GO:0005521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005521", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2A8U2-1", "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": "A2A8U2-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Ser441", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ] } ] }, { "uniprot_canonical_ac": "A2A8U2-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Ser444", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ] } ] }, { "uniprot_canonical_ac": "A2A8U2-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Ser450", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ] } ] }, { "uniprot_canonical_ac": "A2A8U2-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Ser454", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ] } ] }, { "uniprot_canonical_ac": "A2A8U2-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Ser466", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ] } ] }, { "uniprot_canonical_ac": "A2A8U2-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Ser477", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ] } ] }, { "uniprot_canonical_ac": "A2A8U2-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Ser480", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ] } ] }, { "uniprot_canonical_ac": "A2A8U2-1", "start_pos": "529", "end_pos": "529", "site_lbl": "Ser529", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A8U2", "url": "https://www.uniprot.org/uniprotkb/A2A8U2" } ] } ] } ], "record_id": "A2A8U2-1" }, { "uniprot_canonical_ac": "A4Q9E8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 822, "chemical_mass": 94507.0, "gene_names": "Ttll6;4932418K24Rik;D11Moh43e;D11Moh44e;Ttll6;t8130b59", "protein_name": "Tubulin polyglutamylase TTLL6", "disease": [], "cellular_component": [ { "name": "sperm end piece", "id": "GO:0097229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097229", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "9+0 non-motile cilium", "id": "GO:0097731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097731", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" } ], "biological_process": [ { "name": "microtubule severing", "id": "GO:0051013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051013", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "protein polyglutamylation", "id": "GO:0018095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018095", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "regulation of cilium beat frequency involved in ciliary motility", "id": "GO:0060296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060296", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "microtubule bundle formation", "id": "GO:0001578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001578", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "positive regulation of cilium movement", "id": "GO:0003353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003353", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "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": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "protein-glutamic acid ligase activity", "id": "GO:0070739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070739", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "protein-glutamic acid ligase activity, initiating", "id": "GO:0106437", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106437", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" }, { "name": "protein-glutamic acid ligase activity, elongating", "id": "GO:0106438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106438", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A4Q9E8-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Lys125", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of alpha-tubulin alpha-elongation step of polyglutamylase activity.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" }, { "database": "PubMed", "id": "32747782", "url": "https://glygen.org/publication/PubMed/32747782" } ] } ] }, { "uniprot_canonical_ac": "A4Q9E8-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Lys174", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of alpha-tubulin alpha-elongation step of polyglutamylase activity.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" }, { "database": "PubMed", "id": "32747782", "url": "https://glygen.org/publication/PubMed/32747782" } ] } ] }, { "uniprot_canonical_ac": "A4Q9E8-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Cys179", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Strong increase in alpha-tubulin initiation step of polyglutamylase activity; when associated with R-180 and I-362. Strong increase in alpha-tubulin initiation step of polyglutamylase activity; when associated with R-180, I-182, I-362 and H-367.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" }, { "database": "PubMed", "id": "32747782", "url": "https://glygen.org/publication/PubMed/32747782" } ] }, { "sequence_org": "C", "sequence_mut": "V", "comment": "Decreased alpha-tubulin alpha-elongation step of polyglutamylase activity.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" }, { "database": "PubMed", "id": "32747782", "url": "https://glygen.org/publication/PubMed/32747782" } ] } ] }, { "uniprot_canonical_ac": "A4Q9E8-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Gln180", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Decreased alpha-tubulin alpha-elongation step of polyglutamylase activity.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" }, { "database": "PubMed", "id": "32747782", "url": "https://glygen.org/publication/PubMed/32747782" } ] }, { "sequence_org": "Q", "sequence_mut": "R", "comment": "Increased alpha-tubulin initiation step of polyglutamylase activity. Increased alpha-tubulin initiation step of polyglutamylase activity; when associated with I-362. Strong increase in alpha-tubulin initiation step of polyglutamylase activity; when associated with A-179 and I-362. Strong increase in alpha-tubulin initiation step of polyglutamylase activity; when associated with A-179, I-182, I-362 and H-367.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" }, { "database": "PubMed", "id": "32747782", "url": "https://glygen.org/publication/PubMed/32747782" } ] } ] }, { "uniprot_canonical_ac": "A4Q9E8-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Arg182", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Strong increase in alpha-tubulin initiation step of polyglutamylase activity; when associated with A-179, R-180, I-362 and H-367.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" }, { "database": "PubMed", "id": "32747782", "url": "https://glygen.org/publication/PubMed/32747782" } ] } ] }, { "uniprot_canonical_ac": "A4Q9E8-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Arg219", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of alpha-tubulin alpha-elongation polyglutamylase activity.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" }, { "database": "PubMed", "id": "32747782", "url": "https://glygen.org/publication/PubMed/32747782" } ] } ] }, { "uniprot_canonical_ac": "A4Q9E8-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Arg241", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of alpha-tubulin alpha-elongation step of polyglutamylase activity.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" }, { "database": "PubMed", "id": "32747782", "url": "https://glygen.org/publication/PubMed/32747782" } ] } ] }, { "uniprot_canonical_ac": "A4Q9E8-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Asn264", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Loss of alpha-tubulin alpha-elongation step of polyglutamylase activity.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" }, { "database": "PubMed", "id": "32747782", "url": "https://glygen.org/publication/PubMed/32747782" } ] } ] }, { "uniprot_canonical_ac": "A4Q9E8-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Lys283", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of alpha-tubulin alpha-elongation step of polyglutamylase activity.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" }, { "database": "PubMed", "id": "32747782", "url": "https://glygen.org/publication/PubMed/32747782" } ] } ] }, { "uniprot_canonical_ac": "A4Q9E8-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Asp346", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of alpha-tubulin alpha-elongation step of polyglutamylase activity.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" }, { "database": "PubMed", "id": "32747782", "url": "https://glygen.org/publication/PubMed/32747782" } ] } ] }, { "uniprot_canonical_ac": "A4Q9E8-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Glu359", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Loss of alpha-tubulin alpha-elongation step of polyglutamylase activity.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" }, { "database": "PubMed", "id": "32747782", "url": "https://glygen.org/publication/PubMed/32747782" } ] } ] }, { "uniprot_canonical_ac": "A4Q9E8-1", "start_pos": "362", "end_pos": "362", "site_lbl": "His362", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Decreased alpha-tubulin alpha-elongation step of polyglutamylase activity.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" }, { "database": "PubMed", "id": "32747782", "url": "https://glygen.org/publication/PubMed/32747782" } ] }, { "sequence_org": "H", "sequence_mut": "I", "comment": "Small increase in alpha-tubulin initiation step of polyglutamylase activity. Increased alpha-tubulin initiation step of polyglutamylase activity; when associated with R-180. Strong increase in alpha-tubulin initiation step of polyglutamylase activity; when associated with A-179 and R-180. Strong increase in alpha-tubulin initiation step of polyglutamylase activity; when associated with A-179, R-180, I-362 and H-367.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" }, { "database": "PubMed", "id": "32747782", "url": "https://glygen.org/publication/PubMed/32747782" } ] } ] }, { "uniprot_canonical_ac": "A4Q9E8-1", "start_pos": "367", "end_pos": "367", "site_lbl": "Ser367", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "H", "comment": "Strong increase in alpha-tubulin initiation step of polyglutamylase activity; when associated with A-179, R-180, I-182 and I-262.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" }, { "database": "PubMed", "id": "32747782", "url": "https://glygen.org/publication/PubMed/32747782" } ] } ] }, { "uniprot_canonical_ac": "A4Q9E8-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Lys377", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of alpha-tubulin alpha-elongation step of polyglutamylase activity.", "evidence": [ { "database": "UniProtKB", "id": "A4Q9E8", "url": "https://www.uniprot.org/uniprotkb/A4Q9E8" }, { "database": "PubMed", "id": "32747782", "url": "https://glygen.org/publication/PubMed/32747782" } ] } ] } ], "record_id": "A4Q9E8-1" }, { "uniprot_canonical_ac": "Q8R138-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 280, "chemical_mass": 29401.0, "gene_names": "Tmem119;Tmem119;obif", "protein_name": "Transmembrane protein 119", "disease": [], "biological_process": [ { "name": "positive regulation of bone development", "id": "GO:1903012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903012", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "positive regulation of osteoblast proliferation", "id": "GO:0033690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033690", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "biomineral tissue development", "id": "GO:0031214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031214", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "negative regulation of myotube differentiation", "id": "GO:0010832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010832", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "spermatid differentiation", "id": "GO:0048515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048515", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "negative regulation of bone resorption", "id": "GO:0045779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045779", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "endochondral ossification", "id": "GO:0001958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001958", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R138-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Ser36", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) (chondroitin sulfate) serine", "icn3d_view": {}, "start_pos": 36, "start_aa": "Ser", "end_pos": 36, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser36", "evidence": [ { "id": "Q8R138", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R138#ptm_processing" }, { "id": "26207632", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26207632" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of glycosylation. No effect on osteoblast mineralization. Loss of glycosylation; when associated with A-43; A-54; A-60 and A-67.", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" }, { "database": "PubMed", "id": "26207632", "url": "https://glygen.org/publication/PubMed/26207632" } ] } ] }, { "uniprot_canonical_ac": "Q8R138-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Thr54", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 54, "start_aa": "Thr", "end_pos": 54, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr54", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No loss of glycosylation. Loss of glycosylation; when associated with A-36; A-43; A-60 and A-67.", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" }, { "database": "PubMed", "id": "26207632", "url": "https://glygen.org/publication/PubMed/26207632" } ] } ] }, { "uniprot_canonical_ac": "Q8R138-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Thr60", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 60, "start_aa": "Thr", "end_pos": 60, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr60", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No loss of glycosylation. Loss of glycosylation; when associated with A-36; A-43; A-54 and A-67.", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" }, { "database": "PubMed", "id": "26207632", "url": "https://glygen.org/publication/PubMed/26207632" } ] } ] }, { "uniprot_canonical_ac": "Q8R138-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ser269", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" } ] } ] }, { "uniprot_canonical_ac": "Q8R138-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Ser43", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No loss of glycosylation. Loss of glycosylation; when associated with A-36; A-54; A-60 and A-67.", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" }, { "database": "PubMed", "id": "26207632", "url": "https://glygen.org/publication/PubMed/26207632" } ] } ] }, { "uniprot_canonical_ac": "Q8R138-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Thr67", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No loss of glycosylation. Loss of glycosylation; when associated with A-36; A-43; A-54 and A-60.", "evidence": [ { "database": "UniProtKB", "id": "Q8R138", "url": "https://www.uniprot.org/uniprotkb/Q8R138" }, { "database": "PubMed", "id": "26207632", "url": "https://glygen.org/publication/PubMed/26207632" } ] } ] } ], "record_id": "Q8R138-1" }, { "uniprot_canonical_ac": "Q8R3S2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 283, "chemical_mass": 31550.0, "gene_names": "Tspan33;1300010A20Rik;Pen;Tspan33", "protein_name": "Tetraspanin-33", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" }, { "name": "tetraspanin-enriched microdomain", "id": "GO:0097197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097197", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" }, { "name": "pore complex", "id": "GO:0046930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046930", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "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": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" }, { "name": "pore complex assembly", "id": "GO:0046931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046931", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "Q8R3S2", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R3S2-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Asn172", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 172, "start_aa": "Asn", "end_pos": 172, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn172", "evidence": [ { "id": "Q8R3S2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R3S2#ptm_processing" } ] } ] } ], "record_id": "Q8R3S2-1" }, { "uniprot_canonical_ac": "Q9Z1T2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 963, "chemical_mass": 106366.0, "gene_names": "Thbs4;TSP4;Thbs4;Tsp4", "protein_name": "Thrombospondin-4", "disease": [], "biological_process": [ { "name": "endothelial cell-cell adhesion", "id": "GO:0071603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071603", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "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": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "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": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "myoblast migration", "id": "GO:0051451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051451", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "behavioral response to pain", "id": "GO:0048266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048266", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "regulation of tissue remodeling", "id": "GO:0034103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034103", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "positive regulation of neutrophil chemotaxis", "id": "GO:0090023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090023", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "tissue remodeling", "id": "GO:0048771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" } ], "molecular_function": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "fibronectin binding", "id": "GO:0001968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001968", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "laminin-1 binding", "id": "GO:0043237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043237", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" }, { "name": "thrombospondin complex", "id": "GO:1990341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990341", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z1T2-1", "start_pos": "614", "end_pos": "614", "site_lbl": "Asn614", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 614, "start_aa": "Asn", "end_pos": 614, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn614", "evidence": [ { "id": "Q9Z1T2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T2-1", "start_pos": "650", "end_pos": "650", "site_lbl": "Asn650", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 650, "start_aa": "Asn", "end_pos": 650, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn650", "evidence": [ { "id": "Q9Z1T2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T2-1", "start_pos": "943", "end_pos": "943", "site_lbl": "Asn943", "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": "YRCNDTIPEDFQEFQTQSFDR", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 943, "start_aa": "Asn", "end_pos": 943, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn943", "evidence": [ { "id": "Q9Z1T2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9Z1T2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9Z1T2-1", "start_pos": "652", "end_pos": "652", "site_lbl": "Ser652", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NSS->NSF).", "chr_id": "13", "chr_pos": "92894567", "evidence": [ { "id": "rs3389312084", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389312084" } ] } ] } ], "record_id": "Q9Z1T2-1" }, { "uniprot_canonical_ac": "Q00899-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 414, "chemical_mass": 44717.0, "gene_names": "Yy1;NF-E1;Ucrbp;YY-1;Yy1", "protein_name": "Transcriptional repressor protein YY1", "disease": [ { "disease_id": "DOID:4769", "name": "pleuropulmonary blastoma", "description": "A pulmonary blastoma that derives_from the lung or pleural cavity.", "url": "https://disease-ontology.org/term/DOID:4769", "evidence": [ { "id": "4769", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4769" } ], "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: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": "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": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "regulation of DNA strand elongation", "id": "GO:0060382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060382", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "regulation of chromosome organization", "id": "GO:0033044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033044", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "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": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "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": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "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": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "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": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "regulation of DNA replication", "id": "GO:0006275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006275", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "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": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "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": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "response to prostaglandin F", "id": "GO:0034696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034696", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "response to UV-C", "id": "GO:0010225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010225", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "chromosome organization", "id": "GO:0051276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051276", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "regulation of DNA repair", "id": "GO:0006282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006282", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "regulatory T cell differentiation", "id": "GO:0045066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045066", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "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": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "negative regulation of miRNA transcription", "id": "GO:1902894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902894", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "RNA localization", "id": "GO:0006403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006403", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "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": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "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": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "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": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "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": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "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": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "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": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "four-way junction DNA binding", "id": "GO:0000400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000400", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "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": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "lncRNA binding", "id": "GO:0106222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106222", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "Ino80 complex", "id": "GO:0031011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031011", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "chromatin silencing complex", "id": "GO:0005677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005677", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" }, { "name": "PcG protein complex", "id": "GO:0031519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031519", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q00899-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Thr236", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 236, "start_aa": "Thr", "end_pos": 236, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr236", "evidence": [ { "id": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "Q00899", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q00899" } ] } ] }, { "uniprot_canonical_ac": "Q00899-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Ser120", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ] } ] }, { "uniprot_canonical_ac": "Q00899-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Ser184", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q00899", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q00899" }, { "database": "PubMed", "id": "31629407", "url": "https://glygen.org/publication/PubMed/31629407" } ] } ] }, { "uniprot_canonical_ac": "Q00899-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ser247", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q00899", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q00899" }, { "database": "PubMed", "id": "31629407", "url": "https://glygen.org/publication/PubMed/31629407" } ] } ] }, { "uniprot_canonical_ac": "Q00899-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Thr378", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q00899", "url": "https://www.uniprot.org/uniprotkb/Q00899" } ] } ] } ], "record_id": "Q00899-1" }, { "uniprot_canonical_ac": "Q6PCN3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1308, "chemical_mass": 141613.0, "gene_names": "Ttbk1;C330008L01Rik;Ttbk1", "protein_name": "Tau-tubulin 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": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "tau protein binding", "id": "GO:0048156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048156", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "tau-protein kinase activity", "id": "GO:0050321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050321", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "microtubule associated complex", "id": "GO:0005875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005875", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "positive regulation of astrocyte activation", "id": "GO:0061890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061890", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "positive regulation of microglial cell activation", "id": "GO:1903980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903980", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" }, { "name": "positive regulation of protein polymerization", "id": "GO:0032273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032273", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PCN3-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Thr635", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 635, "start_aa": "Thr", "end_pos": 635, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr635", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6PCN3-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Ser441", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PCN3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PCN3" } ] } ] }, { "uniprot_canonical_ac": "Q6PCN3-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Ser541", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6PCN3", "url": "https://www.uniprot.org/uniprotkb/Q6PCN3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6PCN3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6PCN3" } ] } ] } ], "record_id": "Q6PCN3-1" }, { "uniprot_canonical_ac": "Q8BGR6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGR6", "url": "https://www.uniprot.org/uniprotkb/Q8BGR6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 204, "chemical_mass": 22905.0, "gene_names": "Arl15;A430036I03;Arfrp2;Arl15;C230032K13Rik", "protein_name": "ADP-ribosylation factor-like protein 15", "disease": [], "biological_process": [ { "name": "cranial skeletal system development", "id": "GO:1904888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904888", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR6", "url": "https://www.uniprot.org/uniprotkb/Q8BGR6" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR6", "url": "https://www.uniprot.org/uniprotkb/Q8BGR6" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR6", "url": "https://www.uniprot.org/uniprotkb/Q8BGR6" } ], "pmid": "" }, { "name": "hormone metabolic process", "id": "GO:0042445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042445", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR6", "url": "https://www.uniprot.org/uniprotkb/Q8BGR6" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR6", "url": "https://www.uniprot.org/uniprotkb/Q8BGR6" } ], "pmid": "" }, { "name": "soft palate development", "id": "GO:0060023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060023", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR6", "url": "https://www.uniprot.org/uniprotkb/Q8BGR6" } ], "pmid": "" }, { "name": "hard palate development", "id": "GO:0060022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060022", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR6", "url": "https://www.uniprot.org/uniprotkb/Q8BGR6" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR6", "url": "https://www.uniprot.org/uniprotkb/Q8BGR6" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q8BGR6", "url": "https://www.uniprot.org/uniprotkb/Q8BGR6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BGR6-1" }, { "uniprot_canonical_ac": "A1IGU4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A1IGU4", "url": "https://www.uniprot.org/uniprotkb/A1IGU4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 676, "chemical_mass": 76524.0, "gene_names": "Arhgef37;4933429F08Rik;Arhgef37", "protein_name": "Rho guanine nucleotide exchange factor 37", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A1IGU4", "url": "https://www.uniprot.org/uniprotkb/A1IGU4" } ], "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": "A1IGU4", "url": "https://www.uniprot.org/uniprotkb/A1IGU4" } ], "pmid": "" } ], "biological_process": [ { "name": "clathrin-dependent endocytosis", "id": "GO:0072583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072583", "evidence": [ { "database": "UniProtKB", "id": "A1IGU4", "url": "https://www.uniprot.org/uniprotkb/A1IGU4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A1IGU4-1", "start_pos": "668", "end_pos": "668", "site_lbl": "Thr668", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 668, "start_aa": "Thr", "end_pos": 668, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr668", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "A1IGU4-1" }, { "uniprot_canonical_ac": "Q3U214-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1321, "chemical_mass": 144174.0, "gene_names": "Mast3;Kiaa0561;Mast3;mKIAA0561", "protein_name": "Microtubule-associated serine/threonine-protein kinase 3", "disease": [ { "disease_id": "DOID:0070394", "name": "developmental and epileptic encephalopathy 108", "description": "A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0070394", "evidence": [ { "id": "0070394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070394" } ], "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": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "1055", "end_pos": "1055", "site_lbl": "Asn1055", "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": "ISLRTTALENTSIK", "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": "Q3U214-1", "start_pos": "1210", "end_pos": "1210", "site_lbl": "Thr1210", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1210, "start_aa": "Thr", "end_pos": 1210, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1210", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "1311", "end_pos": "1311", "site_lbl": "Thr1311", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1311, "start_aa": "Thr", "end_pos": 1311, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1311", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "1314", "end_pos": "1314", "site_lbl": "Thr1314", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1314, "start_aa": "Thr", "end_pos": 1314, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1314", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Thr257", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 257, "start_aa": "Thr", "end_pos": 257, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr257", "evidence": [ { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "Q3U214", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Ser258", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 258, "start_aa": "Ser", "end_pos": 258, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser258", "evidence": [ { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "Q3U214", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "741", "end_pos": "741", "site_lbl": "Thr741", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 741, "start_aa": "Thr", "end_pos": 741, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr741", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "842", "end_pos": "842", "site_lbl": "Thr842", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 842, "start_aa": "Thr", "end_pos": 842, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr842", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "867", "end_pos": "867", "site_lbl": "Asn867", "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": "SNSTGARHSTPRPLDAGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 867, "start_aa": "Asn", "end_pos": 867, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn867", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "107", "end_pos": "107", "site_lbl": "Ser107", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U214", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "1237", "end_pos": "1237", "site_lbl": "Ser1237", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "iPTMnet", "id": "Q3U214", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "1289", "end_pos": "1289", "site_lbl": "Ser1289", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" }, { "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": "Q3U214", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Ser159", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U214", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Ser168", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Thr411", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Ser534", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "650", "end_pos": "650", "site_lbl": "Thr650", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "702", "end_pos": "702", "site_lbl": "Ser702", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U214", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "732", "end_pos": "732", "site_lbl": "Ser732", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U214", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "750", "end_pos": "750", "site_lbl": "Ser750", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U214", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "769", "end_pos": "769", "site_lbl": "Ser769", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "776", "end_pos": "776", "site_lbl": "Ser776", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "795", "end_pos": "795", "site_lbl": "Ser795", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "803", "end_pos": "803", "site_lbl": "Ser803", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "813", "end_pos": "813", "site_lbl": "Ser813", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "814", "end_pos": "814", "site_lbl": "Ser814", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ] } ] }, { "uniprot_canonical_ac": "Q3U214-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Ser88", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U214", "url": "https://www.uniprot.org/uniprotkb/Q3U214" } ] } ] } ], "record_id": "Q3U214-1" }, { "uniprot_canonical_ac": "Q8VCR7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VCR7", "url": "https://www.uniprot.org/uniprotkb/Q8VCR7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 210, "chemical_mass": 22451.0, "gene_names": "Abhd14b", "protein_name": "Putative protein-lysine deacylase ABHD14B", "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": "Q8VCR7", "url": "https://www.uniprot.org/uniprotkb/Q8VCR7" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q8VCR7", "url": "https://www.uniprot.org/uniprotkb/Q8VCR7" } ], "pmid": "" }, { "name": "acyltransferase activity", "id": "GO:0016746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016746", "evidence": [ { "database": "UniProtKB", "id": "Q8VCR7", "url": "https://www.uniprot.org/uniprotkb/Q8VCR7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8VCR7", "url": "https://www.uniprot.org/uniprotkb/Q8VCR7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8VCR7", "url": "https://www.uniprot.org/uniprotkb/Q8VCR7" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8VCR7", "url": "https://www.uniprot.org/uniprotkb/Q8VCR7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VCR7", "url": "https://www.uniprot.org/uniprotkb/Q8VCR7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8VCR7", "url": "https://www.uniprot.org/uniprotkb/Q8VCR7" } ], "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": "Q8VCR7", "url": "https://www.uniprot.org/uniprotkb/Q8VCR7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VCR7-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Ser91", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCR7", "url": "https://www.uniprot.org/uniprotkb/Q8VCR7" } ] } ] } ], "record_id": "Q8VCR7-1" }, { "uniprot_canonical_ac": "Q03141-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 753, "chemical_mass": 84390.0, "gene_names": "Mark3;1600015G02Rik;A430080F22Rik;C-TAK1;ETK-1;ETK1;Emk2;MPK10;Mark3;Mpk10", "protein_name": "MAP/microtubule affinity-regulating kinase 3", "disease": [ { "disease_id": "DOID:0070356", "name": "visual impairment and progressive phthisis bulbi", "description": "An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3.", "url": "https://disease-ontology.org/term/DOID:0070356", "evidence": [ { "id": "0070356", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070356" } ], "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 } ], "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": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ], "pmid": "" }, { "name": "tau-protein kinase activity", "id": "GO:0050321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050321", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ], "pmid": "" } ], "biological_process": [ { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ], "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": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ], "pmid": "" }, { "name": "regulation of G2/M transition of mitotic cell cycle", "id": "GO:0010389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010389", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ], "pmid": "" }, { "name": "negative regulation of hippo signaling", "id": "GO:0035331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035331", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q03141-1", "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": "Q03141", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "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": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q03141", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q03141" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "641", "end_pos": "641", "site_lbl": "Asn641", "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": "NGRYEGSSRNVSSEQK", "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": "Q03141-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Thr211", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Ser368", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q03141", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "374", "end_pos": "374", "site_lbl": "Ser374", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q03141", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Ser376", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Ser380", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q03141", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Ser383", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q03141", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "400", "end_pos": "400", "site_lbl": "Ser400", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q03141", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Ser419", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q03141", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Ser42", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Ser469", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Ser540", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q03141", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Ser543", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q03141", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "549", "end_pos": "549", "site_lbl": "Thr549", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q03141", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "564", "end_pos": "564", "site_lbl": "Thr564", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "583", "end_pos": "583", "site_lbl": "Ser583", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "598", "end_pos": "598", "site_lbl": "Ser598", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "601", "end_pos": "601", "site_lbl": "Ser601", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "643", "end_pos": "643", "site_lbl": "Ser643", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03141", "url": "https://www.uniprot.org/uniprotkb/Q03141" } ] } ] }, { "uniprot_canonical_ac": "Q03141-1", "start_pos": "611", "end_pos": "611", "site_lbl": "Lys611", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KLT->NLT).", "chr_id": "12", "chr_pos": "111614151", "evidence": [ { "id": "rs3389234589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389234589" } ] } ] } ], "record_id": "Q03141-1" }, { "uniprot_canonical_ac": "B2RX14-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1644, "chemical_mass": 184650.0, "gene_names": "Tut4;6030404K05Rik;9230115F04Rik;Kiaa0191;PPAPD3;Tent3a;Tut4;Zcchc11;mKIAA0191", "protein_name": "Terminal uridylyltransferase 4", "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: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 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "miRNA binding", "id": "GO:0035198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035198", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "uridylyltransferase activity", "id": "GO:0070569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070569", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "RNA uridylyltransferase activity", "id": "GO:0050265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050265", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "poly(A) RNA polymerase activity", "id": "GO:1990817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990817", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "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": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "oocyte maturation", "id": "GO:0001556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001556", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "miRNA metabolic process", "id": "GO:0010586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010586", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "pre-miRNA processing", "id": "GO:0031054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031054", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "RNA 3'-end processing", "id": "GO:0031123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031123", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "regulation of lipopolysaccharide-mediated signaling pathway", "id": "GO:0031664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031664", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "interleukin-6-mediated signaling pathway", "id": "GO:0070102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070102", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "miRNA catabolic process", "id": "GO:0010587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010587", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "polyuridylation-dependent mRNA catabolic process", "id": "GO:1990074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990074", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "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": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" }, { "name": "RNA metabolic process", "id": "GO:0016070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016070", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B2RX14-1", "start_pos": "1520", "end_pos": "1520", "site_lbl": "Thr1520", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1520, "start_aa": "Thr", "end_pos": 1520, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1520", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "B2RX14-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Asn31", "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": "IISNQTLKPR", "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": "B2RX14-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Ser102", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" } ] } ] }, { "uniprot_canonical_ac": "B2RX14-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Ser131", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "B2RX14", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RX14" } ] } ] }, { "uniprot_canonical_ac": "B2RX14-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Ser176", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "B2RX14", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B2RX14" } ] } ] }, { "uniprot_canonical_ac": "B2RX14-1", "start_pos": "1268", "end_pos": "1268", "site_lbl": "Ile1268", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFI->NFT).", "chr_id": "4", "chr_pos": "108400003", "evidence": [ { "id": "rs3388687211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687211" } ] } ] }, { "uniprot_canonical_ac": "B2RX14-1", "start_pos": "529", "end_pos": "529", "site_lbl": "Ile529", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IDS->NDS).", "chr_id": "4", "chr_pos": "108365114", "evidence": [ { "id": "rs3388698635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388698635" } ] } ] }, { "uniprot_canonical_ac": "B2RX14-1", "start_pos": "1026", "end_pos": "1026", "site_lbl": "Asp1026", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of nucleotidyltransferase activity and oocytes are unable to support early embryonic development; when associated with A-1028.", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" }, { "database": "PubMed", "id": "28792939", "url": "https://glygen.org/publication/PubMed/28792939" }, { "database": "PubMed", "id": "19701194", "url": "https://glygen.org/publication/PubMed/19701194" } ] } ] }, { "uniprot_canonical_ac": "B2RX14-1", "start_pos": "1028", "end_pos": "1028", "site_lbl": "Asp1028", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of nucleotidyltransferase activity and oocytes are unable to support early embryonic development; when associated with A-1026.", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" }, { "database": "PubMed", "id": "19701194", "url": "https://glygen.org/publication/PubMed/19701194" }, { "database": "PubMed", "id": "28792939", "url": "https://glygen.org/publication/PubMed/28792939" } ] } ] }, { "uniprot_canonical_ac": "B2RX14-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Cys326", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on basal uridylation activity, but loss of LIN28A-enhanced uridylation; when associated with A-329.", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" }, { "database": "PubMed", "id": "22898984", "url": "https://glygen.org/publication/PubMed/22898984" } ] } ] }, { "uniprot_canonical_ac": "B2RX14-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Cys329", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on basal uridylation activity, but loss of LIN28A-enhanced uridylation; when associated with A-326.", "evidence": [ { "database": "UniProtKB", "id": "B2RX14", "url": "https://www.uniprot.org/uniprotkb/B2RX14" }, { "database": "PubMed", "id": "22898984", "url": "https://glygen.org/publication/PubMed/22898984" } ] } ] } ], "record_id": "B2RX14-1" }, { "uniprot_canonical_ac": "Q60841-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 3461, "chemical_mass": 387495.0, "gene_names": "Reln;Reln;Rl;reeler;rl", "protein_name": "Reelin", "disease": [ { "disease_id": "DOID:0060751", "name": "familial temporal lobe epilepsy 7", "description": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22.", "url": "https://disease-ontology.org/term/DOID:0060751", "evidence": [ { "id": "0060751", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060751" } ], "weight": 0.0 }, { "disease_id": "DOID:0060902", "name": "Norman-Roberts syndrome", "description": "A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22.", "url": "https://disease-ontology.org/term/DOID:0060902", "evidence": [ { "id": "0060902", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060902" } ], "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:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ], "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: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: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: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: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: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": "postsynaptic density assembly", "id": "GO:0097107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097107", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "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": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "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": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "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": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "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": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "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": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "regulation of NMDA receptor activity", "id": "GO:2000310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000310", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "positive regulation of excitatory postsynaptic potential", "id": "GO:2000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000463", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "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": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "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": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "regulation of behavior", "id": "GO:0050795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050795", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "positive regulation of TOR signaling", "id": "GO:0032008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "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": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "positive regulation of synapse maturation", "id": "GO:0090129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090129", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "layer formation in cerebral cortex", "id": "GO:0021819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021819", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "cerebral cortex tangential migration", "id": "GO:0021800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021800", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "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": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "NMDA glutamate receptor clustering", "id": "GO:0097114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097114", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "protein localization to synapse", "id": "GO:0035418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035418", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "response to pain", "id": "GO:0048265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048265", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "receptor localization to synapse", "id": "GO:0097120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097120", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "reelin-mediated signaling pathway", "id": "GO:0038026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038026", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "synaptic vesicle exocytosis", "id": "GO:0016079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016079", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "regulation of synapse maturation", "id": "GO:0090128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090128", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "spinal cord patterning", "id": "GO:0021511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021511", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "positive regulation of lateral motor column neuron migration", "id": "GO:1902078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902078", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "dentate gyrus development", "id": "GO:0021542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021542", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "glial cell differentiation", "id": "GO:0010001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010001", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "regulation of neuron migration", "id": "GO:2001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001222", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "lateral motor column neuron migration", "id": "GO:0097477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097477", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "postsynaptic density protein 95 clustering", "id": "GO:0097119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097119", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "ventral spinal cord development", "id": "GO:0021517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021517", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "regulation of synaptic activity", "id": "GO:0060025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060025", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "reelin complex", "id": "GO:0110157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110157", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "lipoprotein particle receptor binding", "id": "GO:0070325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070325", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "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": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" }, { "name": "serine-type peptidase activity", "id": "GO:0008236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008236", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60841-1", "start_pos": "1267", "end_pos": "1267", "site_lbl": "Asn1267", "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": "NDSFCATTPSAMVFGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1267, "start_aa": "Asn", "end_pos": 1267, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1267", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 1267, "start_aa": "Asn", "end_pos": 1267, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1267", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NDS->KDS).", "chr_id": "5", "chr_pos": "22202998", "evidence": [ { "id": "rs3388745746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388745746" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Asn141", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 141, "start_aa": "Asn", "end_pos": 141, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn141", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "1447", "end_pos": "1447", "site_lbl": "Asn1447", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1447, "start_aa": "Asn", "end_pos": 1447, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1447", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "1600", "end_pos": "1600", "site_lbl": "Asn1600", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1600, "start_aa": "Asn", "end_pos": 1600, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1600", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "1750", "end_pos": "1750", "site_lbl": "Asn1750", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1750, "start_aa": "Asn", "end_pos": 1750, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1750", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "1921", "end_pos": "1921", "site_lbl": "Asn1921", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1921, "start_aa": "Asn", "end_pos": 1921, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1921", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "2145", "end_pos": "2145", "site_lbl": "Asn2145", "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=2E26&bu=0&command=select+.A:2145;+center+selection;+zoom+selection" }, "start_pos": 2145, "start_aa": "Asn", "end_pos": 2145, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2145", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" }, { "id": "17548821", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17548821" }, { "id": "2E26", "database": "PDB", "url": "https://www.rcsb.org/structure/2E26" }, { "id": "2E26", "database": "PDB", "url": "https://www.rcsb.org/structure/2E26" }, { "id": "3A7Q", "database": "PDB", "url": "https://www.rcsb.org/structure/3A7Q" }, { "id": "3A7Q", "database": "PDB", "url": "https://www.rcsb.org/structure/3A7Q" }, { "id": "2E26|A|2145", "database": "", "url": "" }, { "id": "3A7Q|A|2145", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "2269", "end_pos": "2269", "site_lbl": "Asn2269", "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=2E26&bu=0&command=select+.A:2269;+center+selection;+zoom+selection" }, "start_pos": 2269, "start_aa": "Asn", "end_pos": 2269, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2269", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" }, { "id": "17548821", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17548821" }, { "id": "2E26", "database": "PDB", "url": "https://www.rcsb.org/structure/2E26" }, { "id": "2E26", "database": "PDB", "url": "https://www.rcsb.org/structure/2E26" }, { "id": "2E26|A|2269", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "2317", "end_pos": "2317", "site_lbl": "Asn2317", "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=3A7Q&bu=0&command=select+.A:2317;+center+selection;+zoom+selection" }, "start_pos": 2317, "start_aa": "Asn", "end_pos": 2317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2317", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" }, { "id": "17548821", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17548821" }, { "id": "3A7Q", "database": "PDB", "url": "https://www.rcsb.org/structure/3A7Q" }, { "id": "3A7Q", "database": "PDB", "url": "https://www.rcsb.org/structure/3A7Q" }, { "id": "5B4X", "database": "PDB", "url": "https://www.rcsb.org/structure/5B4X" }, { "id": "5B4X", "database": "PDB", "url": "https://www.rcsb.org/structure/5B4X" }, { "id": "3A7Q|A|2317", "database": "", "url": "" }, { "id": "5B4X|A|2317", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "2569", "end_pos": "2569", "site_lbl": "Asn2569", "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=3A7Q&bu=0&command=select+.A:2569;+center+selection;+zoom+selection" }, "start_pos": 2569, "start_aa": "Asn", "end_pos": 2569, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2569", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" }, { "id": "17548821", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17548821" }, { "id": "3A7Q", "database": "PDB", "url": "https://www.rcsb.org/structure/3A7Q" }, { "id": "3A7Q", "database": "PDB", "url": "https://www.rcsb.org/structure/3A7Q" }, { "id": "5B4X", "database": "PDB", "url": "https://www.rcsb.org/structure/5B4X" }, { "id": "5B4X", "database": "PDB", "url": "https://www.rcsb.org/structure/5B4X" }, { "id": "3A7Q|A|2569", "database": "", "url": "" }, { "id": "5B4X|A|2569", "database": "", "url": "" }, { "id": "5B4X|C|2569", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Asn258", "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": "ELTTTCLNTTTASVLQFSIGSGSCR", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "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=6A48&bu=0&command=select+.A:258;+center+selection;+zoom+selection" }, "start_pos": 258, "start_aa": "Asn", "end_pos": 258, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn258", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" }, { "id": "6A48", "database": "PDB", "url": "https://www.rcsb.org/structure/6A48" }, { "id": "6A48", "database": "PDB", "url": "https://www.rcsb.org/structure/6A48" }, { "id": "6A48|A|258", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Asn290", "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": "NNTADWIQLEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 290, "start_aa": "Asn", "end_pos": 290, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn290", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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=6A48&bu=0&command=select+.A:290;+center+selection;+zoom+selection" }, "start_pos": 290, "start_aa": "Asn", "end_pos": 290, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn290", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" }, { "id": "6A48", "database": "PDB", "url": "https://www.rcsb.org/structure/6A48" }, { "id": "6A48", "database": "PDB", "url": "https://www.rcsb.org/structure/6A48" }, { "id": "6A48|A|290", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "2962", "end_pos": "2962", "site_lbl": "Asn2962", "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": 2962, "start_aa": "Asn", "end_pos": 2962, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2962", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2678", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2678" } ] }, { "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": 2962, "start_aa": "Asn", "end_pos": 2962, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2962", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2678", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2678" } ] }, { "glytoucan_ac": "G90659AW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IGSENNMTSCHR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 2962, "start_aa": "Asn", "end_pos": 2962, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2962", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 2962, "start_aa": "Asn", "end_pos": 2962, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn2962", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "3016", "end_pos": "3016", "site_lbl": "Asn3016", "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": 3016, "start_aa": "Asn", "end_pos": 3016, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3016", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2678", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2678" } ] }, { "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": 3016, "start_aa": "Asn", "end_pos": 3016, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3016", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2678", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2678" } ] }, { "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": 3016, "start_aa": "Asn", "end_pos": 3016, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3016", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2678", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2678" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HDYILLPEGALTNTTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3016, "start_aa": "Asn", "end_pos": 3016, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3016", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 3016, "start_aa": "Asn", "end_pos": 3016, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3016", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2678", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2678" } ] }, { "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": 3016, "start_aa": "Asn", "end_pos": 3016, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3016", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2678", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2678" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3016, "start_aa": "Asn", "end_pos": 3016, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3016", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Asn306", "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": "APSNVSTVIHILYLPEEAK", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=6A48&bu=0&command=select+.A:306;+center+selection;+zoom+selection" }, "start_pos": 306, "start_aa": "Asn", "end_pos": 306, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn306", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" }, { "id": "6A48", "database": "PDB", "url": "https://www.rcsb.org/structure/6A48" }, { "id": "6A48", "database": "PDB", "url": "https://www.rcsb.org/structure/6A48" }, { "id": "6A48|A|306", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "3073", "end_pos": "3073", "site_lbl": "Asn3073", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3073, "start_aa": "Asn", "end_pos": 3073, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3073", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "3185", "end_pos": "3185", "site_lbl": "Asn3185", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G22573RC", "type": "N-linked", "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=7LYU&bu=0&command=select+.A:3185;+center+selection;+zoom+selection" }, "start_pos": 3185, "start_aa": "Asn", "end_pos": 3185, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3185", "evidence": [ { "id": "7LYU", "database": "PDB", "url": "https://www.rcsb.org/structure/7LYU" }, { "id": "7LYU", "database": "PDB", "url": "https://www.rcsb.org/structure/7LYU" }, { "id": "7LYU|A|3185", "database": "", "url": "" } ] }, { "glytoucan_ac": "G42227JK", "type": "N-linked", "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=7LYU&bu=0&command=select+.B:3185;+center+selection;+zoom+selection" }, "start_pos": 3185, "start_aa": "Asn", "end_pos": 3185, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3185", "evidence": [ { "id": "7LYU", "database": "PDB", "url": "https://www.rcsb.org/structure/7LYU" }, { "id": "7LYU", "database": "PDB", "url": "https://www.rcsb.org/structure/7LYU" }, { "id": "7LYU|B|3185", "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": {}, "start_pos": 3185, "start_aa": "Asn", "end_pos": 3185, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3185", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "3412", "end_pos": "3412", "site_lbl": "Asn3412", "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": "HNGTGHDQWALDHVEVVLVSTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3412, "start_aa": "Asn", "end_pos": 3412, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3412", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "glytoucan_ac": "G09724ZC", "type": "N-linked", "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=7LYU&bu=0&command=select+.A:3412;+center+selection;+zoom+selection" }, "start_pos": 3412, "start_aa": "Asn", "end_pos": 3412, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3412", "evidence": [ { "id": "7LYU", "database": "PDB", "url": "https://www.rcsb.org/structure/7LYU" }, { "id": "7LYU", "database": "PDB", "url": "https://www.rcsb.org/structure/7LYU" }, { "id": "7LYU|A|3412", "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": {}, "start_pos": 3412, "start_aa": "Asn", "end_pos": 3412, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3412", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "3439", "end_pos": "3439", "site_lbl": "Asn3439", "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": "KQNYMMNFSR", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 3439, "start_aa": "Asn", "end_pos": 3439, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3439", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "629", "end_pos": "629", "site_lbl": "Asn629", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 629, "start_aa": "Asn", "end_pos": 629, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn629", "evidence": [ { "id": "Q60841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60841#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "2635", "end_pos": "2635", "site_lbl": "Ile2635", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IAT->NAT).", "chr_id": "5", "chr_pos": "22130406", "evidence": [ { "id": "rs3388731293", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388731293" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "2800", "end_pos": "2800", "site_lbl": "Lys2800", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KCS->NCS).", "chr_id": "5", "chr_pos": "22124105", "evidence": [ { "id": "rs3388745394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388745394" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "2884", "end_pos": "2884", "site_lbl": "Tyr2884", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YLT->NLT).", "chr_id": "5", "chr_pos": "22120001", "evidence": [ { "id": "rs3388749518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388749518" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "2101", "end_pos": "2101", "site_lbl": "Cys2101", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Fails to assemble into disulfide-bonded multimers, while still exhibiting non-covalently associated high molecular weight oligomeric states in solution; retains binding to LRP8 and VLDR receptors but fails to show signaling activity.", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" }, { "database": "PubMed", "id": "21844191", "url": "https://glygen.org/publication/PubMed/21844191" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "2360", "end_pos": "2360", "site_lbl": "Lys2360", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes ApoER2-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" }, { "database": "PubMed", "id": "17548821", "url": "https://glygen.org/publication/PubMed/17548821" } ] } ] }, { "uniprot_canonical_ac": "Q60841-1", "start_pos": "2467", "end_pos": "2467", "site_lbl": "Lys2467", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes ApoER2-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q60841", "url": "https://www.uniprot.org/uniprotkb/Q60841" }, { "database": "PubMed", "id": "17548821", "url": "https://glygen.org/publication/PubMed/17548821" } ] } ] } ], "record_id": "Q60841-1" }, { "uniprot_canonical_ac": "P10852-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 526, "chemical_mass": 58337.0, "gene_names": "Slc3a2;4F2HC;4F2;Cd98;Ly-10;Ly-m10;Ly10;Mdu1;Mgp-2hc;NACAE;Slc3a2", "protein_name": "Amino acid transporter heavy chain SLC3A2", "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: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:0080899", "name": "lung pleomorphic carcinoma", "description": "A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:0080899", "evidence": [ { "id": "0080899", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080899" } ], "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: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: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 } ], "molecular_function": [ { "name": "L-alanine transmembrane transporter activity", "id": "GO:0015180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015180", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "neutral L-amino acid transmembrane transporter activity", "id": "GO:0015175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015175", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "aromatic amino acid transmembrane transporter activity", "id": "GO:0015173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015173", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "L-leucine transmembrane transporter activity", "id": "GO:0015190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015190", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "exogenous protein binding", "id": "GO:0140272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140272", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" } ], "biological_process": [ { "name": "L-leucine transport", "id": "GO:0015820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015820", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "proline transport", "id": "GO:0015824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015824", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "L-leucine import across plasma membrane", "id": "GO:1903801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903801", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "neutral amino acid transport", "id": "GO:0015804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015804", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "tryptophan transport", "id": "GO:0015827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015827", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "response to exogenous dsRNA", "id": "GO:0043330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043330", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "thyroid hormone transport", "id": "GO:0070327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070327", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "tyrosine transport", "id": "GO:0015828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015828", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "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": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "phenylalanine transport", "id": "GO:0015823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015823", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "isoleucine transport", "id": "GO:0015818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015818", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "valine transport", "id": "GO:0015829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015829", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "L-alanine import across plasma membrane", "id": "GO:1904273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904273", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "methionine transport", "id": "GO:0015821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015821", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "L-histidine transport", "id": "GO:1902024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902024", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "transmembrane transporter complex", "id": "GO:1902495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902495", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "amino acid transport complex", "id": "GO:1990184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990184", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "apical pole of neuron", "id": "GO:0044225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044225", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" }, { "name": "anchoring junction", "id": "GO:0070161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070161", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P10852-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Asn166", "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": "NQKDEINETDLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 166, "start_aa": "Asn", "end_pos": 166, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn166", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 166, "start_aa": "Asn", "end_pos": 166, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn166", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2098", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2098" } ] }, { "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": 166, "start_aa": "Asn", "end_pos": 166, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn166", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2098", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2098" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 166, "start_aa": "Asn", "end_pos": 166, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn166", "evidence": [ { "id": "P10852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10852#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": "P10852-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Asn259", "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": "LMNAPLYLAEWQNITK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 259, "start_aa": "Asn", "end_pos": 259, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn259", "evidence": [ { "id": "P10852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10852#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": "P10852-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Asn263", "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": 263, "start_aa": "Asn", "end_pos": 263, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn263", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2098", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2098" } ] }, { "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": 263, "start_aa": "Asn", "end_pos": 263, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn263", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2098", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2098" } ] }, { "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": 263, "start_aa": "Asn", "end_pos": 263, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn263", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2098", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2098" } ] }, { "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": 263, "start_aa": "Asn", "end_pos": 263, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn263", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2098", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2098" } ] }, { "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": 263, "start_aa": "Asn", "end_pos": 263, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn263", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2098", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2098" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 263, "start_aa": "Asn", "end_pos": 263, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn263", "evidence": [ { "id": "P10852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "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": "P10852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Asn318", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 318, "start_aa": "Asn", "end_pos": 318, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn318", "evidence": [ { "id": "P10852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Asn385", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G04657PL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "APLMPWNESSIFHIPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 385, "start_aa": "Asn", "end_pos": 385, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn385", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 385, "start_aa": "Asn", "end_pos": 385, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn385", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2098", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2098" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 385, "start_aa": "Asn", "end_pos": 385, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn385", "evidence": [ { "id": "P10852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10852#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": "P10852-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Asn399", "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": "PVSLNMTVK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 399, "start_aa": "Asn", "end_pos": 399, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn399", "evidence": [ { "id": "P10852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10852#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": "P10852-1", "start_pos": "509", "end_pos": "509", "site_lbl": "Asn509", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 509, "start_aa": "Asn", "end_pos": 509, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn509", "evidence": [ { "id": "P10852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Ser300", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Ser302", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "420", "end_pos": "420", "site_lbl": "Ser420", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ser58", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" }, { "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": "P10852", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10852" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Thr5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Cys103", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8690805", "evidence": [ { "id": "rs3406993299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406993299" } ] }, { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8690804", "evidence": [ { "id": "rs3409030911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409030911" } ] } ], "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of interchain disulfide bond. No effect on guidance of SLC7A5 to the plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "P10852", "url": "https://www.uniprot.org/uniprotkb/P10852" }, { "database": "PubMed", "id": "9915839", "url": "https://glygen.org/publication/PubMed/9915839" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Arg129", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8690726", "evidence": [ { "id": "rs30312834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30312834" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Gly133", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686428", "evidence": [ { "id": "rs3389516744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389516744" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Asn174", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8690152", "evidence": [ { "id": "rs3389481486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389481486" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Thr176", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8690148", "evidence": [ { "id": "rs222186024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222186024" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Ile219", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8689217", "evidence": [ { "id": "rs3554274126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3554274126" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Pro23", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8691045", "evidence": [ { "id": "rs3407847477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407847477" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Lys246", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8687086", "evidence": [ { "id": "rs3389527908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389527908" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Tyr253", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686959", "evidence": [ { "id": "rs3389539453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389539453" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Asn284", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686727", "evidence": [ { "id": "rs39110315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs39110315" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Asp28", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8691029", "evidence": [ { "id": "rs30847429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30847429" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Ser290", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686708", "evidence": [ { "id": "rs3408842106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408842106" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Ser296", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686691", "evidence": [ { "id": "rs3389523203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389523203" } ] }, { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686691", "evidence": [ { "id": "rs3389523203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389523203" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "338", "end_pos": "338", "site_lbl": "Phe338", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686480", "evidence": [ { "id": "rs263341789", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs263341789" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Gly33", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8691015", "evidence": [ { "id": "rs3389481570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389481570" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Gly356", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686428", "evidence": [ { "id": "rs3389516744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389516744" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Ser361", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8686413", "evidence": [ { "id": "rs3408952938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408952938" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Ser388", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685605", "evidence": [ { "id": "rs3389520155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389520155" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Arg394", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685587", "evidence": [ { "id": "rs3389535878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389535878" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Thr401", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685566", "evidence": [ { "id": "rs1134550805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134550805" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "416", "end_pos": "416", "site_lbl": "Phe416", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685422", "evidence": [ { "id": "rs3409029710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409029710" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Arg417", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685418", "evidence": [ { "id": "rs3409319178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409319178" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Arg418", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685415", "evidence": [ { "id": "rs3389517316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389517316" } ] }, { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685415", "evidence": [ { "id": "rs3389517316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389517316" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Leu419", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685412", "evidence": [ { "id": "rs3408995831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408995831" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Asp421", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685405", "evidence": [ { "id": "rs3407847504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407847504" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Gly424", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685397", "evidence": [ { "id": "rs3508174773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3508174773" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Tyr446", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685332", "evidence": [ { "id": "rs13470235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13470235" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Val458", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685296", "evidence": [ { "id": "rs3389489776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389489776" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Glu47", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8690973", "evidence": [ { "id": "rs3554274064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3554274064" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Lys487", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685207", "evidence": [ { "id": "rs37896102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37896102" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Ser491", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685197", "evidence": [ { "id": "rs3389431255", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431255" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Asp493", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685190", "evidence": [ { "id": "rs3389539503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389539503" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Gln497", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685179", "evidence": [ { "id": "rs3389470393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389470393" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "499", "end_pos": "499", "site_lbl": "Arg499", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685172", "evidence": [ { "id": "rs3389533628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389533628" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Asp502", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8685163", "evidence": [ { "id": "rs261040689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261040689" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Val7", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8691092", "evidence": [ { "id": "rs3389470430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389470430" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Leu81", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8690870", "evidence": [ { "id": "rs3389533587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389533587" } ] } ] }, { "uniprot_canonical_ac": "P10852-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Ala91", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8690841", "evidence": [ { "id": "rs3389470436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389470436" } ] } ] } ], "record_id": "P10852-1" }, { "uniprot_canonical_ac": "O70423-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 765, "chemical_mass": 84534.0, "gene_names": "Aoc3;Aoc3;SSAO;VAP1;Vap1", "protein_name": "Amine oxidase [copper-containing] 3", "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: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: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: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: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: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: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 }, { "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": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "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": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "positive regulation of acute inflammatory response", "id": "GO:0002675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002675", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "amine metabolic process", "id": "GO:0009308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009308", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "response to immobilization stress", "id": "GO:0035902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035902", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "positive regulation of D-glucose transmembrane transport", "id": "GO:0010828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010828", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "positive regulation of leukocyte migration", "id": "GO:0002687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002687", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "primary methylamine oxidase activity", "id": "GO:0008131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008131", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" }, { "name": "quinone binding", "id": "GO:0048038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048038", "evidence": [ { "database": "UniProtKB", "id": "O70423", "url": "https://www.uniprot.org/uniprotkb/O70423" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O70423-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Asn137", "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": "PNVSELVVGPLPHPSYMR", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "O70423", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O70423#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O70423-1", "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": "O70423", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O70423#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O70423-1", "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": "O70423", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O70423#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O70423-1", "start_pos": "592", "end_pos": "592", "site_lbl": "Asn592", "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": "YLYLASNHSNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 592, "start_aa": "Asn", "end_pos": 592, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn592", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 592, "start_aa": "Asn", "end_pos": 592, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn592", "evidence": [ { "id": "O70423", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O70423#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O70423-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Asn659", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 659, "start_aa": "Asn", "end_pos": 659, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn659", "evidence": [ { "id": "O70423", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O70423#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NFT->DFT).", "chr_id": "11", "chr_pos": "101227263", "evidence": [ { "id": "rs27057387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27057387" } ] } ] }, { "uniprot_canonical_ac": "O70423-1", "start_pos": "666", "end_pos": "666", "site_lbl": "Asn666", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 666, "start_aa": "Asn", "end_pos": 666, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn666", "evidence": [ { "id": "O70423", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O70423#ptm_processing" } ] } ] } ], "record_id": "O70423-1" }, { "uniprot_canonical_ac": "P58749-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P58749", "url": "https://www.uniprot.org/uniprotkb/P58749" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 370, "chemical_mass": 41662.0, "gene_names": "Tm6sf1;C630016D09Rik;Tm6sf1", "protein_name": "Transmembrane 6 superfamily member 1", "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 } ], "cellular_component": [ { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P58749", "url": "https://www.uniprot.org/uniprotkb/P58749" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P58749-1" }, { "uniprot_canonical_ac": "Q8K442-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1620, "chemical_mass": 184180.0, "gene_names": "Abca8a;Abca8a", "protein_name": "ABC-type organic anion transporter ABCA8A", "disease": [], "biological_process": [ { "name": "sphingomyelin biosynthetic process", "id": "GO:0006686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006686", "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "pmid": "" }, { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "pmid": "" }, { "name": "cholesterol transport", "id": "GO:0030301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030301", "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "pmid": "" }, { "name": "regulation of cholesterol efflux", "id": "GO:0010874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010874", "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "pmid": "" }, { "name": "xenobiotic transport", "id": "GO:0042908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908", "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "pmid": "" }, { "name": "ABC-type xenobiotic transporter activity", "id": "GO:0008559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008559", "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8K442", "url": "https://www.uniprot.org/uniprotkb/Q8K442" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K442-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Asn112", "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": "ILASPNEENMTELISMR", "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" } ] } ] }, { "uniprot_canonical_ac": "Q8K442-1", "start_pos": "1307", "end_pos": "1307", "site_lbl": "Asn1307", "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": "NISFCVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1307, "start_aa": "Asn", "end_pos": 1307, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1307", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8K442-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Asn454", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 454, "start_aa": "Asn", "end_pos": 454, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn454", "evidence": [ { "id": "Q8K442", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K442#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8K442-1", "start_pos": "482", "end_pos": "482", "site_lbl": "Asn482", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 482, "start_aa": "Asn", "end_pos": 482, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn482", "evidence": [ { "id": "Q8K442", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K442#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8K442-1", "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" } ] } ] }, { "uniprot_canonical_ac": "Q8K442-1", "start_pos": "967", "end_pos": "967", "site_lbl": "Asn967", "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": "NYNFTLACNTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 967, "start_aa": "Asn", "end_pos": 967, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn967", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 967, "start_aa": "Asn", "end_pos": 967, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn967", "evidence": [ { "id": "Q8K442", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K442#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8K442-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Thr114", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NMT->NMR).", "chr_id": "11", "chr_pos": "109977417", "evidence": [ { "id": "rs3389216381", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389216381" } ] } ] } ], "record_id": "Q8K442-1" }, { "uniprot_canonical_ac": "Q99J72-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 440, "chemical_mass": 52213.0, "gene_names": "Apobec3;Apobec3;Apobec;Arp3;Cem15;Gm20117;Rfv3", "protein_name": "DNA dC->dU-editing enzyme APOBEC-3", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "cytidine deaminase activity", "id": "GO:0004126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004126", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" } ], "biological_process": [ { "name": "cytidine to uridine editing", "id": "GO:0016554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016554", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "DNA cytosine deamination", "id": "GO:0070383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070383", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "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": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "regulation of defense response to virus", "id": "GO:0050688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050688", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "regulation of viral life cycle", "id": "GO:1903900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903900", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "transposable element silencing", "id": "GO:0010526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010526", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "antiviral innate immune response", "id": "GO:0140374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140374", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99J72-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Glu301", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Decrease in cytidine deaminase and antiviral activity; when associated with A-84.", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" }, { "database": "PubMed", "id": "17020885", "url": "https://glygen.org/publication/PubMed/17020885" } ] }, { "sequence_org": "E", "sequence_mut": "A", "comment": "No effect on cytidine deaminase and antiviral activity.", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" }, { "database": "PubMed", "id": "17020885", "url": "https://glygen.org/publication/PubMed/17020885" } ] } ] }, { "uniprot_canonical_ac": "Q99J72-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Glu84", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Decrease in cytidine deaminase and antiviral activity.", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" }, { "database": "PubMed", "id": "17020885", "url": "https://glygen.org/publication/PubMed/17020885" } ] }, { "sequence_org": "E", "sequence_mut": "A", "comment": "Decrease in cytidine deaminase and antiviral activity; when associated with A-301.", "evidence": [ { "database": "UniProtKB", "id": "Q99J72", "url": "https://www.uniprot.org/uniprotkb/Q99J72" }, { "database": "PubMed", "id": "17020885", "url": "https://glygen.org/publication/PubMed/17020885" } ] } ] } ], "record_id": "Q99J72-1" }, { "uniprot_canonical_ac": "Q8BFS9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BFS9", "url": "https://www.uniprot.org/uniprotkb/Q8BFS9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 627, "chemical_mass": 69753.0, "gene_names": "Asnsd1;2210409M21Rik;Asnsd1", "protein_name": "Asparagine synthetase domain-containing protein 1", "disease": [ { "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 } ], "biological_process": [ { "name": "skeletal muscle organ development", "id": "GO:0060538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060538", "evidence": [ { "database": "UniProtKB", "id": "Q8BFS9", "url": "https://www.uniprot.org/uniprotkb/Q8BFS9" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "Q8BFS9", "url": "https://www.uniprot.org/uniprotkb/Q8BFS9" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "Q8BFS9", "url": "https://www.uniprot.org/uniprotkb/Q8BFS9" } ], "pmid": "" }, { "name": "L-asparagine biosynthetic process", "id": "GO:0070981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070981", "evidence": [ { "database": "UniProtKB", "id": "Q8BFS9", "url": "https://www.uniprot.org/uniprotkb/Q8BFS9" } ], "pmid": "" }, { "name": "transdifferentiation", "id": "GO:0060290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060290", "evidence": [ { "database": "UniProtKB", "id": "Q8BFS9", "url": "https://www.uniprot.org/uniprotkb/Q8BFS9" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "Q8BFS9", "url": "https://www.uniprot.org/uniprotkb/Q8BFS9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BFS9-1" }, { "uniprot_canonical_ac": "J3QMK6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "J3QMK6", "url": "https://www.uniprot.org/uniprotkb/J3QMK6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 479, "chemical_mass": 53120.0, "gene_names": "Aldh3b3;1700055N04Rik;Aldh3b3", "protein_name": "Aldehyde dehydrogenase family 3 member B3", "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": "J3QMK6", "url": "https://www.uniprot.org/uniprotkb/J3QMK6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "J3QMK6", "url": "https://www.uniprot.org/uniprotkb/J3QMK6" } ], "pmid": "" } ], "biological_process": [ { "name": "aldehyde metabolic process", "id": "GO:0006081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006081", "evidence": [ { "database": "UniProtKB", "id": "J3QMK6", "url": "https://www.uniprot.org/uniprotkb/J3QMK6" } ], "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": "J3QMK6", "url": "https://www.uniprot.org/uniprotkb/J3QMK6" } ], "pmid": "" }, { "name": "aldehyde dehydrogenase [NAD(P)+] activity", "id": "GO:0004030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004030", "evidence": [ { "database": "UniProtKB", "id": "J3QMK6", "url": "https://www.uniprot.org/uniprotkb/J3QMK6" } ], "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": "J3QMK6", "url": "https://www.uniprot.org/uniprotkb/J3QMK6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "J3QMK6-1" }, { "uniprot_canonical_ac": "Q6KAU8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6KAU8", "url": "https://www.uniprot.org/uniprotkb/Q6KAU8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 623, "chemical_mass": 69241.0, "gene_names": "Atg16l2;2410118P20Rik;Atg16l2", "protein_name": "Protein Atg16l2", "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 } ], "biological_process": [ { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU8", "url": "https://www.uniprot.org/uniprotkb/Q6KAU8" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU8", "url": "https://www.uniprot.org/uniprotkb/Q6KAU8" } ], "pmid": "" }, { "name": "negative stranded viral RNA replication", "id": "GO:0039689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039689", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU8", "url": "https://www.uniprot.org/uniprotkb/Q6KAU8" } ], "pmid": "" }, { "name": "macroautophagy", "id": "GO:0016236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016236", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU8", "url": "https://www.uniprot.org/uniprotkb/Q6KAU8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU8", "url": "https://www.uniprot.org/uniprotkb/Q6KAU8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU8", "url": "https://www.uniprot.org/uniprotkb/Q6KAU8" } ], "pmid": "" }, { "name": "phagophore assembly site membrane", "id": "GO:0034045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034045", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU8", "url": "https://www.uniprot.org/uniprotkb/Q6KAU8" } ], "pmid": "" }, { "name": "Atg12-Atg5-Atg16 complex", "id": "GO:0034274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034274", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU8", "url": "https://www.uniprot.org/uniprotkb/Q6KAU8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6KAU8-1" }, { "uniprot_canonical_ac": "Q9EST3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 983, "chemical_mass": 107986.0, "gene_names": "Eif4enif1;2610509L04Rik;A930019J01Rik;Clast4;D11Ertd166e;Eif4enif1", "protein_name": "Eukaryotic translation initiation factor 4E transporter", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "pmid": "" }, { "name": "nuclear export signal receptor activity", "id": "GO:0005049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005049", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "pmid": "" }, { "name": "mRNA stabilization", "id": "GO:0048255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048255", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "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": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "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": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "pmid": "" }, { "name": "P-body assembly", "id": "GO:0033962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033962", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "pmid": "" }, { "name": "negative regulation of deadenylation-dependent decapping of nuclear-transcribed mRNA", "id": "GO:0106289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106289", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Thr226", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 226, "start_aa": "Thr", "end_pos": 226, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr226", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9EST3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9EST3" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "Q9EST3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9EST3" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "452", "end_pos": "452", "site_lbl": "Asn452", "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": "NSTPFMAEHLEETLSAASSNR", "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" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "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": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9EST3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9EST3" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "677", "end_pos": "677", "site_lbl": "Asn677", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G13360UI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "SPAPMHGGNSSSPAPAASITSMLSPSFTPTSVIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 677, "start_aa": "Asn", "end_pos": 677, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn677", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "904", "end_pos": "904", "site_lbl": "Ser904", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 904, "start_aa": "Ser", "end_pos": 904, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser904", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q9EST3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "911", "end_pos": "911", "site_lbl": "Ser911", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 911, "start_aa": "Ser", "end_pos": 911, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser911", "evidence": [ { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9EST3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9EST3" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "Q9EST3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9EST3" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "912", "end_pos": "912", "site_lbl": "Ser912", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 912, "start_aa": "Ser", "end_pos": 912, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser912", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q9EST3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "913", "end_pos": "913", "site_lbl": "Ser913", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 913, "start_aa": "Ser", "end_pos": 913, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser913", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q9EST3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "919", "end_pos": "919", "site_lbl": "Ser919", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 919, "start_aa": "Ser", "end_pos": 919, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser919", "evidence": [ { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9EST3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9EST3" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" }, { "id": "Q9EST3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9EST3" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "922", "end_pos": "922", "site_lbl": "Thr922", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 922, "start_aa": "Thr", "end_pos": 922, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr922", "evidence": [ { "id": "22517741", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22517741" }, { "id": "Q9EST3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9EST3" }, { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "36757814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36757814" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Ser114", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Ser119", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Ser135", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Ser137", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "300", "end_pos": "300", "site_lbl": "Ser300", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Ser344", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Ser352", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Ser373", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Ser4", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Ser563", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9EST3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "586", "end_pos": "586", "site_lbl": "Ser586", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Ser692", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Ser73", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "751", "end_pos": "751", "site_lbl": "Ser751", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ser77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "949", "end_pos": "949", "site_lbl": "Ser949", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EST3", "url": "https://www.uniprot.org/uniprotkb/Q9EST3" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9EST3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EST3" } ] } ] }, { "uniprot_canonical_ac": "Q9EST3-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Thr553", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TAS->NAS).", "chr_id": "11", "chr_pos": "3184538", "evidence": [ { "id": "rs3389134048", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389134048" } ] } ] } ], "record_id": "Q9EST3-1" }, { "uniprot_canonical_ac": "P04627-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 604, "chemical_mass": 67581.0, "gene_names": "Araf;1200013E08Rik;A-Raf;A-raf;Araf1;Araf", "protein_name": "Serine/threonine-protein kinase A-Raf", "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: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: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 } ], "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": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "pmid": "" }, { "name": "MAP kinase kinase kinase activity", "id": "GO:0004709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004709", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "pmid": "" } ], "biological_process": [ { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "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": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "pmid": "" }, { "name": "regulation of TOR signaling", "id": "GO:0032006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032006", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "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": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P04627-1", "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": "40021952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40021952" }, { "id": "P04627", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04627" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P04627", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P04627" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->N).", "chr_id": "X", "chr_pos": "20716254", "evidence": [ { "id": "rs3408667630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408667630" } ] } ] }, { "uniprot_canonical_ac": "P04627-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Ser157", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P04627", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04627" } ] } ] }, { "uniprot_canonical_ac": "P04627-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Ser162", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ] } ] }, { "uniprot_canonical_ac": "P04627-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Thr181", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P04627", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04627" } ] } ] }, { "uniprot_canonical_ac": "P04627-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Ser186", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ] } ] }, { "uniprot_canonical_ac": "P04627-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Ser255", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ] } ] }, { "uniprot_canonical_ac": "P04627-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Ser267", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ] } ] }, { "uniprot_canonical_ac": "P04627-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Thr316", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04627", "url": "https://www.uniprot.org/uniprotkb/P04627" } ] } ] } ], "record_id": "P04627-1" }, { "uniprot_canonical_ac": "B7ZCC9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B7ZCC9", "url": "https://www.uniprot.org/uniprotkb/B7ZCC9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 3073, "chemical_mass": 334211.0, "gene_names": "Adgrg4;Gpr112", "protein_name": "Adhesion G protein-coupled receptor G4", "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": "B7ZCC9", "url": "https://www.uniprot.org/uniprotkb/B7ZCC9" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "B7ZCC9", "url": "https://www.uniprot.org/uniprotkb/B7ZCC9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "B7ZCC9", "url": "https://www.uniprot.org/uniprotkb/B7ZCC9" } ], "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": "B7ZCC9", "url": "https://www.uniprot.org/uniprotkb/B7ZCC9" } ], "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": "B7ZCC9", "url": "https://www.uniprot.org/uniprotkb/B7ZCC9" } ], "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": "B7ZCC9", "url": "https://www.uniprot.org/uniprotkb/B7ZCC9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B7ZCC9-1", "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": "B7ZCC9-1", "start_pos": "1141", "end_pos": "1141", "site_lbl": "Asn1141", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1141, "start_aa": "Asn", "end_pos": 1141, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1141", "evidence": [ { "id": "B7ZCC9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B7ZCC9#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->KVT).", "chr_id": "X", "chr_pos": "55961240", "evidence": [ { "id": "rs256504407", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256504407" } ] } ] }, { "uniprot_canonical_ac": "B7ZCC9-1", "start_pos": "1160", "end_pos": "1160", "site_lbl": "Thr1160", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1160, "start_aa": "Thr", "end_pos": 1160, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1160", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "B7ZCC9-1", "start_pos": "1185", "end_pos": "1185", "site_lbl": "Thr1185", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1185, "start_aa": "Thr", "end_pos": 1185, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1185", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "B7ZCC9-1", "start_pos": "1304", "end_pos": "1304", "site_lbl": "Asn1304", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1304, "start_aa": "Asn", "end_pos": 1304, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1304", "evidence": [ { "id": "B7ZCC9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B7ZCC9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "B7ZCC9-1", "start_pos": "1495", "end_pos": "1495", "site_lbl": "Asn1495", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1495, "start_aa": "Asn", "end_pos": 1495, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1495", "evidence": [ { "id": "B7ZCC9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B7ZCC9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "B7ZCC9-1", "start_pos": "1942", "end_pos": "1942", "site_lbl": "Thr1942", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1942, "start_aa": "Thr", "end_pos": 1942, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1942", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "B7ZCC9-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Ser231", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 231, "start_aa": "Ser", "end_pos": 231, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser231", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "B7ZCC9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=B7ZCC9" } ] } ] }, { "uniprot_canonical_ac": "B7ZCC9-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Asn233", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 233, "start_aa": "Asn", "end_pos": 233, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn233", "evidence": [ { "id": "B7ZCC9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B7ZCC9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "B7ZCC9-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Thr402", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 402, "start_aa": "Thr", "end_pos": 402, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr402", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "B7ZCC9-1", "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": "B7ZCC9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B7ZCC9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "B7ZCC9-1", "start_pos": "1699", "end_pos": "1699", "site_lbl": "Thr1699", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (TVS->NVS).", "chr_id": "X", "chr_pos": "55962913", "evidence": [ { "id": "rs3410491241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410491241" } ] } ] }, { "uniprot_canonical_ac": "B7ZCC9-1", "start_pos": "2662", "end_pos": "2662", "site_lbl": "Asn2662", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIN->NIT).", "chr_id": "X", "chr_pos": "56002687", "evidence": [ { "id": "rs3409496422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409496422" } ] } ] }, { "uniprot_canonical_ac": "B7ZCC9-1", "start_pos": "921", "end_pos": "921", "site_lbl": "Asp921", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DWT->NWT).", "chr_id": "X", "chr_pos": "55960578", "evidence": [ { "id": "rs3389560427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389560427" } ] } ] } ], "record_id": "B7ZCC9-1" }, { "uniprot_canonical_ac": "Q3UEI1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UEI1", "url": "https://www.uniprot.org/uniprotkb/Q3UEI1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 686, "chemical_mass": 76090.0, "gene_names": "Pde4c;Dpde1;E130301F19Rik;Pde4c;dunce", "protein_name": "3',5'-cyclic-AMP phosphodiesterase 4C", "disease": [ { "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 } ], "cellular_component": [ { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q3UEI1", "url": "https://www.uniprot.org/uniprotkb/Q3UEI1" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q3UEI1", "url": "https://www.uniprot.org/uniprotkb/Q3UEI1" } ], "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": "Q3UEI1", "url": "https://www.uniprot.org/uniprotkb/Q3UEI1" } ], "pmid": "" }, { "name": "cAMP catabolic process", "id": "GO:0006198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006198", "evidence": [ { "database": "UniProtKB", "id": "Q3UEI1", "url": "https://www.uniprot.org/uniprotkb/Q3UEI1" } ], "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": "Q3UEI1", "url": "https://www.uniprot.org/uniprotkb/Q3UEI1" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q3UEI1", "url": "https://www.uniprot.org/uniprotkb/Q3UEI1" } ], "pmid": "" }, { "name": "3',5'-cyclic-GMP phosphodiesterase activity", "id": "GO:0047555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047555", "evidence": [ { "database": "UniProtKB", "id": "Q3UEI1", "url": "https://www.uniprot.org/uniprotkb/Q3UEI1" } ], "pmid": "" }, { "name": "3',5'-cyclic-AMP phosphodiesterase activity", "id": "GO:0004115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004115", "evidence": [ { "database": "UniProtKB", "id": "Q3UEI1", "url": "https://www.uniprot.org/uniprotkb/Q3UEI1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UEI1-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Ser28", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UEI1", "url": "https://www.uniprot.org/uniprotkb/Q3UEI1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UEI1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UEI1" } ] } ] }, { "uniprot_canonical_ac": "Q3UEI1-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ser40", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UEI1", "url": "https://www.uniprot.org/uniprotkb/Q3UEI1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UEI1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UEI1" } ] } ] }, { "uniprot_canonical_ac": "Q3UEI1-1", "start_pos": "642", "end_pos": "642", "site_lbl": "Ser642", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UEI1", "url": "https://www.uniprot.org/uniprotkb/Q3UEI1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UEI1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UEI1" } ] } ] }, { "uniprot_canonical_ac": "Q3UEI1-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Ser83", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UEI1", "url": "https://www.uniprot.org/uniprotkb/Q3UEI1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UEI1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UEI1" } ] } ] }, { "uniprot_canonical_ac": "Q3UEI1-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Ser9", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UEI1", "url": "https://www.uniprot.org/uniprotkb/Q3UEI1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3UEI1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UEI1" } ] } ] } ], "record_id": "Q3UEI1-1" }, { "uniprot_canonical_ac": "Q505B7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q505B7", "url": "https://www.uniprot.org/uniprotkb/Q505B7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 168, "chemical_mass": 19727.0, "gene_names": "Zbtb8os;2010001H09Rik;2310028N13Rik;Archm;Arch;Zbtb8os", "protein_name": "tRNA-splicing ligase-activating factor archease", "disease": [], "biological_process": [ { "name": "mRNA splicing, via endonucleolytic cleavage and ligation", "id": "GO:0070054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070054", "evidence": [ { "database": "UniProtKB", "id": "Q505B7", "url": "https://www.uniprot.org/uniprotkb/Q505B7" } ], "pmid": "" }, { "name": "IRE1-mediated unfolded protein response", "id": "GO:0036498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036498", "evidence": [ { "database": "UniProtKB", "id": "Q505B7", "url": "https://www.uniprot.org/uniprotkb/Q505B7" } ], "pmid": "" }, { "name": "tRNA splicing, via endonucleolytic cleavage and ligation", "id": "GO:0006388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006388", "evidence": [ { "database": "UniProtKB", "id": "Q505B7", "url": "https://www.uniprot.org/uniprotkb/Q505B7" } ], "pmid": "" }, { "name": "RNA splicing, via endonucleolytic cleavage and ligation", "id": "GO:0000394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000394", "evidence": [ { "database": "UniProtKB", "id": "Q505B7", "url": "https://www.uniprot.org/uniprotkb/Q505B7" } ], "pmid": "" }, { "name": "tRNA exon ligation", "id": "GO:0000968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000968", "evidence": [ { "database": "UniProtKB", "id": "Q505B7", "url": "https://www.uniprot.org/uniprotkb/Q505B7" } ], "pmid": "" }, { "name": "tRNA processing", "id": "GO:0008033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008033", "evidence": [ { "database": "UniProtKB", "id": "Q505B7", "url": "https://www.uniprot.org/uniprotkb/Q505B7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q505B7", "url": "https://www.uniprot.org/uniprotkb/Q505B7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q505B7", "url": "https://www.uniprot.org/uniprotkb/Q505B7" } ], "pmid": "" }, { "name": "tRNA-splicing ligase complex", "id": "GO:0072669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072669", "evidence": [ { "database": "UniProtKB", "id": "Q505B7", "url": "https://www.uniprot.org/uniprotkb/Q505B7" } ], "pmid": "" }, { "name": "catalytic complex", "id": "GO:1902494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902494", "evidence": [ { "database": "UniProtKB", "id": "Q505B7", "url": "https://www.uniprot.org/uniprotkb/Q505B7" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q505B7", "url": "https://www.uniprot.org/uniprotkb/Q505B7" } ], "pmid": "" }, { "name": "protein guanylyltransferase activity", "id": "GO:0044600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044600", "evidence": [ { "database": "UniProtKB", "id": "Q505B7", "url": "https://www.uniprot.org/uniprotkb/Q505B7" } ], "pmid": "" }, { "name": "RNA ligase (GTP) activity", "id": "GO:0170057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0170057", "evidence": [ { "database": "UniProtKB", "id": "Q505B7", "url": "https://www.uniprot.org/uniprotkb/Q505B7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q505B7-1" }, { "uniprot_canonical_ac": "Q01339-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 345, "chemical_mass": 38619.0, "gene_names": "Apoh;Apoh;B2GPI;B2gp1;beta-2-GPI;beta2-GPI", "protein_name": "Beta-2-glycoprotein 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: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: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: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: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:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "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: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 } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "lipase binding", "id": "GO:0035473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035473", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "lipoprotein lipase activator activity", "id": "GO:0060230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060230", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "high-density lipoprotein particle", "id": "GO:0034364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034364", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle", "id": "GO:0034361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034361", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "chylomicron", "id": "GO:0042627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042627", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" } ], "biological_process": [ { "name": "blood coagulation, intrinsic pathway", "id": "GO:0007597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007597", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "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": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "negative regulation of fibrinolysis", "id": "GO:0051918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051918", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "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": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "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": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "chylomicron remodeling", "id": "GO:0034371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034371", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "negative regulation of blood coagulation", "id": "GO:0030195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030195", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "plasminogen activation", "id": "GO:0031639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031639", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "negative regulation of myeloid cell apoptotic process", "id": "GO:0033033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033033", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "triglyceride transport", "id": "GO:0034197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034197", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "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": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "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": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "regulation of fibrinolysis", "id": "GO:0051917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051917", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "regulation of blood coagulation", "id": "GO:0030193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030193", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" }, { "name": "negative regulation of respiratory burst", "id": "GO:0060268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060268", "evidence": [ { "database": "UniProtKB", "id": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "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": "Q01339", "url": "https://www.uniprot.org/uniprotkb/Q01339" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q01339-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Asn105", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G88989HA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NISFACNPGFFLNGTSSSK", "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": "Q01339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01339#ptm_processing" }, { "id": "17330941", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17330941" } ] } ] }, { "uniprot_canonical_ac": "Q01339-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Asn117", "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": "NISFACNPGFFLNGTSSSK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "Q01339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01339#ptm_processing" }, { "id": "17330941", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17330941" }, { "id": "16944957", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16944957" } ] } ] }, { "uniprot_canonical_ac": "Q01339-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Asn162", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G15488CF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 162, "start_aa": "Asn", "end_pos": 162, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn162", "evidence": [ { "id": "20571061", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20571061" }, { "id": "652", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/652" } ] }, { "glytoucan_ac": "G39397SW", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 162, "start_aa": "Asn", "end_pos": 162, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn162", "evidence": [ { "id": "20571061", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20571061" }, { "id": "652", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/652" } ] }, { "glytoucan_ac": "G60033FS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DYRPSAGNNSLYQDTVVFK", "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": "Q01339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01339#ptm_processing" }, { "id": "17330941", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17330941" }, { "id": "16944957", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16944957" } ] } ] }, { "uniprot_canonical_ac": "Q01339-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Asn183", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "Q01339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01339#ptm_processing" }, { "id": "17330941", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17330941" } ] } ] }, { "uniprot_canonical_ac": "Q01339-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Asn193", "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": 193, "start_aa": "Asn", "end_pos": 193, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn193", "evidence": [ { "id": "Q01339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01339#ptm_processing" }, { "id": "17330941", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17330941" } ] } ] }, { "uniprot_canonical_ac": "Q01339-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Thr33", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 33, "start_aa": "Thr", "end_pos": 33, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr33", "evidence": [ { "id": "Q01339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01339#ptm_processing" } ] } ] } ], "record_id": "Q01339-1" }, { "uniprot_canonical_ac": "Q3U9G9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 626, "chemical_mass": 71440.0, "gene_names": "Lbr;C14SR;Lbr;ic", "protein_name": "Delta(14)-sterol reductase LBR", "disease": [ { "disease_id": "DOID:0111588", "name": "Greenberg dysplasia", "description": "An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12.", "url": "https://disease-ontology.org/term/DOID:0111588", "evidence": [ { "id": "0111588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111588" } ], "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:1702", "name": "ichthyosis vulgaris", "description": "An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface.", "url": "https://disease-ontology.org/term/DOID:1702", "evidence": [ { "id": "1702", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1702" } ], "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:9631", "name": "Pelger-Huet anomaly", "description": "A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12.", "url": "https://disease-ontology.org/term/DOID:9631", "evidence": [ { "id": "9631", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9631" } ], "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": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "random inactivation of X chromosome", "id": "GO:0060816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060816", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process", "id": "GO:0006695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006695", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process via desmosterol", "id": "GO:0033489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033489", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "zymosterol biosynthetic process", "id": "GO:0036197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036197", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "NADPH binding", "id": "GO:0070402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070402", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "nuclear localization sequence binding", "id": "GO:0008139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008139", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "chromo shadow domain binding", "id": "GO:0070087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070087", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "Delta14-sterol reductase activity", "id": "GO:0050613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050613", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "chromatin-protein adaptor activity", "id": "GO:0140463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140463", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "nuclear pore", "id": "GO:0005643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005643", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "nuclear inner membrane", "id": "GO:0005637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005637", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" }, { "name": "nuclear lamina", "id": "GO:0005652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005652", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3U9G9-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Asn152", "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": "NATPYKDK", "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" } ] } ] }, { "uniprot_canonical_ac": "Q3U9G9-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Ser98", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 98, "start_aa": "Ser", "end_pos": 98, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser98", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q3U9G9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3U9G9" }, { "id": "12438562", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12438562" } ] }, { "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": 98, "start_aa": "Ser", "end_pos": 98, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser98", "evidence": [ { "id": "Q3U9G9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3U9G9-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Ser101", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ] } ] }, { "uniprot_canonical_ac": "Q3U9G9-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Ser103", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q3U9G9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U9G9" } ] } ] }, { "uniprot_canonical_ac": "Q3U9G9-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Thr128", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q3U9G9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U9G9" } ] } ] }, { "uniprot_canonical_ac": "Q3U9G9-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Ser138", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ] } ] }, { "uniprot_canonical_ac": "Q3U9G9-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Thr211", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ] } ] }, { "uniprot_canonical_ac": "Q3U9G9-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Ser59", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ] } ] }, { "uniprot_canonical_ac": "Q3U9G9-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Ser67", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" }, { "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": "Q3U9G9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U9G9" } ] } ] }, { "uniprot_canonical_ac": "Q3U9G9-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Ser71", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q3U9G9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U9G9" } ] } ] }, { "uniprot_canonical_ac": "Q3U9G9-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Ser86", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ] } ] }, { "uniprot_canonical_ac": "Q3U9G9-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Ser90", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U9G9", "url": "https://www.uniprot.org/uniprotkb/Q3U9G9" } ] } ] } ], "record_id": "Q3U9G9-1" }, { "uniprot_canonical_ac": "Q8K448-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1642, "chemical_mass": 185895.0, "gene_names": "Abca5;ABC13;Abca5;B930033A02Rik;Kiaa1888;mKIAA1888", "protein_name": "Cholesterol transporter ABCA5", "disease": [], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "negative regulation of macrophage derived foam cell differentiation", "id": "GO:0010745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010745", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "high-density lipoprotein particle remodeling", "id": "GO:0034375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034375", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "reverse cholesterol transport", "id": "GO:0043691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043691", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "regulation of cholesterol efflux", "id": "GO:0010874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010874", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" }, { "name": "positive regulation of reverse cholesterol transport", "id": "GO:1903064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903064", "evidence": [ { "database": "UniProtKB", "id": "Q8K448", "url": "https://www.uniprot.org/uniprotkb/Q8K448" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K448-1", "start_pos": "1353", "end_pos": "1353", "site_lbl": "Thr1353", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1353, "start_aa": "Thr", "end_pos": 1353, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1353", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8K448-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Asn190", "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": "TNVSVWSELESTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 190, "start_aa": "Asn", "end_pos": 190, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn190", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8K448-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Asn388", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 388, "start_aa": "Asn", "end_pos": 388, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn388", "evidence": [ { "id": "Q8K448", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K448#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8K448-1", "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": "Q8K448", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K448#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8K448-1", "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": "Q8K448", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K448#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8K448-1", "start_pos": "919", "end_pos": "919", "site_lbl": "Asn919", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q8K448", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K448#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8K448-1", "start_pos": "996", "end_pos": "996", "site_lbl": "Asn996", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 996, "start_aa": "Asn", "end_pos": 996, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn996", "evidence": [ { "id": "Q8K448", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K448#ptm_processing" } ] } ] } ], "record_id": "Q8K448-1" }, { "uniprot_canonical_ac": "Q99MP8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 591, "chemical_mass": 66991.0, "gene_names": "Brap;3010002G07Rik;BRAP2;Brap;IMP", "protein_name": "BRCA1-associated protein", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ], "pmid": "" }, { "name": "nuclear localization sequence binding", "id": "GO:0008139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008139", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ], "pmid": "" } ], "biological_process": [ { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ], "pmid": "" }, { "name": "negative regulation of signal transduction", "id": "GO:0009968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009968", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99MP8-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Ser116", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ] } ] }, { "uniprot_canonical_ac": "Q99MP8-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Ser118", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ] } ] }, { "uniprot_canonical_ac": "Q99MP8-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Ser52", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99MP8", "url": "https://www.uniprot.org/uniprotkb/Q99MP8" } ] } ] } ], "record_id": "Q99MP8-1" }, { "uniprot_canonical_ac": "Q9D387-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 280, "chemical_mass": 31721.0, "gene_names": "Lamp5;3110035N03Rik;6330527O06Rik;BAD-LAMP;LAMP-5;Lamp5", "protein_name": "Lysosome-associated membrane glycoprotein 5", "disease": [], "cellular_component": [ { "name": "growth cone membrane", "id": "GO:0032584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032584", "evidence": [ { "database": "UniProtKB", "id": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "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": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "pmid": "" } ], "biological_process": [ { "name": "establishment of protein localization to organelle", "id": "GO:0072594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072594", "evidence": [ { "database": "UniProtKB", "id": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "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": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D387-1", "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": "Q9D387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D387#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9D387-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Asn127", "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": 127, "start_aa": "Asn", "end_pos": 127, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn127", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2496", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2496" } ] }, { "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": 127, "start_aa": "Asn", "end_pos": 127, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn127", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2496", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2496" } ] }, { "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": 127, "start_aa": "Asn", "end_pos": 127, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn127", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2496", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2496" } ] }, { "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": 127, "start_aa": "Asn", "end_pos": 127, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn127", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2496", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2496" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ESHNTSKGPEATWNLNK", "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": "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": 127, "start_aa": "Asn", "end_pos": 127, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn127", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2496", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2496" } ] }, { "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": 127, "start_aa": "Asn", "end_pos": 127, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn127", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2496", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2496" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_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": "Q9D387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D387#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9D387-1", "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": "Q9D387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D387#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9D387-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Asn53", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G63076JO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ENGTTCLMAEFAAK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "Q9D387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9D387#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9D387-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Tyr276", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Cell surface localization.", "evidence": [ { "database": "UniProtKB", "id": "Q9D387", "url": "https://www.uniprot.org/uniprotkb/Q9D387" }, { "database": "PubMed", "id": "17215451", "url": "https://glygen.org/publication/PubMed/17215451" } ] } ] } ], "record_id": "Q9D387-1" }, { "uniprot_canonical_ac": "P17047-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 415, "chemical_mass": 45681.0, "gene_names": "Lamp2;CD107b;LGP-B;Lamp II;Lamp-2a;Lamp-2b;Lamp-2c;Lamp-2;Lamp2;Mac3", "protein_name": "Lysosome-associated membrane glycoprotein 2", "disease": [ { "disease_id": "DOID:0050437", "name": "Danon disease", "description": "A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.", "url": "https://disease-ontology.org/term/DOID:0050437", "evidence": [ { "id": "0050437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050437" } ], "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: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: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: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: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:2475", "name": "chronic conjunctivitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2475", "evidence": [ { "id": "2475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2475" } ], "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": "autophagosome maturation", "id": "GO:0097352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "chaperone-mediated autophagy", "id": "GO:0061684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061684", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "protein targeting", "id": "GO:0006605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006605", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "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": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "lysosomal lumen acidification", "id": "GO:0007042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007042", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "lysosomal protein catabolic process", "id": "GO:1905146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905146", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "lysosomal lumen pH elevation", "id": "GO:0035752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035752", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "protein targeting to lysosome involved in chaperone-mediated autophagy", "id": "GO:0061740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061740", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "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": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "positive regulation of ferroptosis", "id": "GO:0160020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160020", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" } ], "cellular_component": [ { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "autolysosome", "id": "GO:0044754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044754", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "platelet dense granule membrane", "id": "GO:0031088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031088", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "lysosomal matrix", "id": "GO:1990836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990836", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "chaperone-mediated autophagy translocation complex", "id": "GO:0061742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061742", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" }, { "name": "ion channel inhibitor activity", "id": "GO:0008200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008200", "evidence": [ { "database": "UniProtKB", "id": "P17047", "url": "https://www.uniprot.org/uniprotkb/P17047" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P17047-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Asn115", "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": 115, "start_aa": "Asn", "end_pos": 115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn115", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2495", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2495" } ] }, { "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": 115, "start_aa": "Asn", "end_pos": 115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn115", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2495", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2495" } ] }, { "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": 115, "start_aa": "Asn", "end_pos": 115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn115", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2495", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2495" } ] }, { "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": 115, "start_aa": "Asn", "end_pos": 115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn115", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2495", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2495" } ] }, { "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": 115, "start_aa": "Asn", "end_pos": 115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn115", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2495", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2495" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EASHYSIHDIVLSYNTSDSTVFPGAVAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 115, "start_aa": "Asn", "end_pos": 115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn115", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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=5GV3&bu=0&command=select+.B:115;+center+selection;+zoom+selection" }, "start_pos": 115, "start_aa": "Asn", "end_pos": 115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn115", "evidence": [ { "id": "P17047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17047#ptm_processing" }, { "id": "5GV3", "database": "PDB", "url": "https://www.rcsb.org/sequence/5GV3" }, { "id": "27663661", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27663661" }, { "id": "5GV3", "database": "PDB", "url": "https://www.rcsb.org/structure/5GV3" }, { "id": "5GV3", "database": "PDB", "url": "https://www.rcsb.org/structure/5GV3" }, { "id": "5GV3|B|115", "database": "", "url": "" }, { "id": "5GV3|A|115", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Asn156", "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": 156, "start_aa": "Asn", "end_pos": 156, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn156", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2495", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2495" } ] }, { "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": 156, "start_aa": "Asn", "end_pos": 156, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn156", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2495", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2495" } ] }, { "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": 156, "start_aa": "Asn", "end_pos": 156, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn156", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2495", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2495" } ] }, { "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": 156, "start_aa": "Asn", "end_pos": 156, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn156", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2495", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2495" } ] }, { "glytoucan_ac": "G84349RE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CNSVLTYNLTPVVQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 156, "start_aa": "Asn", "end_pos": 156, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn156", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Asn175", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G06130KI", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "CNSVLTYNLTPVVQKYWGIHLQAFVQNGTVSK", "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" } ] }, { "glytoucan_ac": "G31685JQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 175, "start_aa": "Asn", "end_pos": 175, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn175", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2495", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2495" } ] }, { "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": 175, "start_aa": "Asn", "end_pos": 175, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn175", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2495", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2495" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "P17047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17047#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Thr218", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 218, "start_aa": "Thr", "end_pos": 218, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr218", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "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" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Thr222", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 222, "start_aa": "Thr", "end_pos": 222, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr222", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Thr224", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 224, "start_aa": "Thr", "end_pos": 224, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr224", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "X", "chr_pos": "37520812", "evidence": [ { "id": "rs3389549680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389549680" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "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": "P17047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17047#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Asn234", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G72918XU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NGNTTCLLATMGLQLNITEEK", "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": "P17047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17047#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Asn247", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G29209BS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NGNTTCLLATMGLQLNITEEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 247, "start_aa": "Asn", "end_pos": 247, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn247", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 247, "start_aa": "Asn", "end_pos": 247, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn247", "evidence": [ { "id": "P17047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17047#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Asn265", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01944YJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VPFIFNINPATTNFTGSCQPQSAQLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 265, "start_aa": "Asn", "end_pos": 265, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn265", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 265, "start_aa": "Asn", "end_pos": 265, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn265", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2495", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2495" } ] }, { "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": 265, "start_aa": "Asn", "end_pos": 265, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn265", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2495", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2495" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "P17047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17047#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NFT->DFT); glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "X", "chr_pos": "37519881", "evidence": [ { "id": "rs3409514954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409514954" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Asn280", "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": "LNNSQIK", "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": "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": 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": "2495", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2495" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_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": "P17047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17047#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Asn29", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G12959FT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LILIFLFLGAVQSNALIVNLTDSK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "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=5GV3&bu=0&command=select+.B:29;+center+selection;+zoom+selection" }, "start_pos": 29, "start_aa": "Asn", "end_pos": 29, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn29", "evidence": [ { "id": "P17047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17047#ptm_processing" }, { "id": "5GV3", "database": "PDB", "url": "https://www.rcsb.org/sequence/5GV3" }, { "id": "27663661", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27663661" }, { "id": "5GV3", "database": "PDB", "url": "https://www.rcsb.org/structure/5GV3" }, { "id": "5GV3", "database": "PDB", "url": "https://www.rcsb.org/structure/5GV3" }, { "id": "5GV3|B|29", "database": "", "url": "" }, { "id": "5GV3|A|29", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Asn312", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G65184UU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EVNVYMYLANGSAFNISNK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 312, "start_aa": "Asn", "end_pos": 312, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn312", "evidence": [ { "id": "P17047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17047#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Asn317", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G65184UU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EVNVYMYLANGSAFNISNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 317, "start_aa": "Asn", "end_pos": 317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn317", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 317, "start_aa": "Asn", "end_pos": 317, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn317", "evidence": [ { "id": "P17047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17047#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Asn322", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 322, "start_aa": "Asn", "end_pos": 322, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn322", "evidence": [ { "id": "P17047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17047#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Asn361", "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": "VQPFNVTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 361, "start_aa": "Asn", "end_pos": 361, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn361", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "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": 361, "start_aa": "Asn", "end_pos": 361, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn361", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2495", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2495" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "P17047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17047#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Asn45", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "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=5GV3&bu=0&command=select+.B:45;+center+selection;+zoom+selection" }, "start_pos": 45, "start_aa": "Asn", "end_pos": 45, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn45", "evidence": [ { "id": "P17047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17047#ptm_processing" }, { "id": "5GV3", "database": "PDB", "url": "https://www.rcsb.org/sequence/5GV3" }, { "id": "27663661", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27663661" }, { "id": "5GV3", "database": "PDB", "url": "https://www.rcsb.org/structure/5GV3" }, { "id": "5GV3", "database": "PDB", "url": "https://www.rcsb.org/structure/5GV3" }, { "id": "5GV3|B|45", "database": "", "url": "" }, { "id": "5GV3|A|45", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "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": "P17047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17047#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "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": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=5GV3&bu=0&command=select+.B:57;+center+selection;+zoom+selection" }, "start_pos": 57, "start_aa": "Asn", "end_pos": 57, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn57", "evidence": [ { "id": "P17047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17047#ptm_processing" }, { "id": "5GV3", "database": "PDB", "url": "https://www.rcsb.org/sequence/5GV3" }, { "id": "27663661", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27663661" }, { "id": "5GV3", "database": "PDB", "url": "https://www.rcsb.org/structure/5GV3" }, { "id": "5GV3", "database": "PDB", "url": "https://www.rcsb.org/structure/5GV3" }, { "id": "5GV3|B|57", "database": "", "url": "" }, { "id": "5GV3|A|57", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Asn97", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "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=5GV3&bu=0&command=select+.B:97;+center+selection;+zoom+selection" }, "start_pos": 97, "start_aa": "Asn", "end_pos": 97, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn97", "evidence": [ { "id": "P17047", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17047#ptm_processing" }, { "id": "5GV3", "database": "PDB", "url": "https://www.rcsb.org/sequence/5GV3" }, { "id": "27663661", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27663661" }, { "id": "5GV3", "database": "PDB", "url": "https://www.rcsb.org/structure/5GV3" }, { "id": "5GV3", "database": "PDB", "url": "https://www.rcsb.org/structure/5GV3" }, { "id": "5GV3|B|97", "database": "", "url": "" }, { "id": "5GV3|A|97", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Asn260", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NIN->NIT); glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "X", "chr_pos": "37519895", "evidence": [ { "id": "rs3554586286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3554586286" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Thr56", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NQT->NQA); glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "X", "chr_pos": "37530907", "evidence": [ { "id": "rs3389551878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389551878" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Val126", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "X", "chr_pos": "37529016", "evidence": [ { "id": "rs229299182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229299182" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Ile14", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "X", "chr_pos": "37545139", "evidence": [ { "id": "rs243972213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243972213" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Gly166", "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": "X", "chr_pos": "37524320", "evidence": [ { "id": "rs231459970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231459970" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Lys180", "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": "X", "chr_pos": "37524279", "evidence": [ { "id": "rs3389568765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389568765" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Pro191", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "X", "chr_pos": "37520912", "evidence": [ { "id": "rs221128713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221128713" } ] }, { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "X", "chr_pos": "37520911", "evidence": [ { "id": "rs255864657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255864657" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Ala195", "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": "X", "chr_pos": "37520900", "evidence": [ { "id": "rs3410082623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410082623" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Gly243", "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": "X", "chr_pos": "37520756", "evidence": [ { "id": "rs3389557711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389557711" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Val253", "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": "X", "chr_pos": "37519916", "evidence": [ { "id": "rs3554321398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3554321398" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Pro261", "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": "X", "chr_pos": "37519893", "evidence": [ { "id": "rs3409776550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409776550" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Leu30", "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": "X", "chr_pos": "37530984", "evidence": [ { "id": "rs3389553205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389553205" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Asn354", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "X", "chr_pos": "37513190", "evidence": [ { "id": "rs3410082691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410082691" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "X", "chr_pos": "37513191", "evidence": [ { "id": "rs3409513868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409513868" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Ala370", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "X", "chr_pos": "37513144", "evidence": [ { "id": "rs3409166716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409166716" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Leu394", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "X", "chr_pos": "37494376", "evidence": [ { "id": "rs3410024020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410024020" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Gln414", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "X", "chr_pos": "37494317", "evidence": [ { "id": "rs3389505002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389505002" } ] } ] }, { "uniprot_canonical_ac": "P17047-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Lys7", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "X", "chr_pos": "37545160", "evidence": [ { "id": "rs256483660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256483660" } ] } ] } ], "record_id": "P17047-1" }, { "uniprot_canonical_ac": "Q7TNG8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 484, "chemical_mass": 51848.0, "gene_names": "Ldhd;4733401P21Rik;D8Bwg1320e;DLD;Ldhd;mLDHD", "protein_name": "D-lactate dehydrogenase, mitochondrial", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" } ], "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": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" } ], "pmid": "" }, { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" } ], "pmid": "" }, { "name": "D-lactate dehydrogenase (cytochrome) activity", "id": "GO:0004458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004458", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" } ], "pmid": "" }, { "name": "lactate dehydrogenase activity", "id": "GO:0004457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004457", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" } ], "pmid": "" }, { "name": "D-lactate dehydrogenase (NAD+) activity", "id": "GO:0008720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008720", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" } ], "pmid": "" }, { "name": "D-lactate dehydrogenase (FAD) activity", "id": "GO:0140170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140170", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" } ], "pmid": "" }, { "name": "(2R)-2-hydroxycarboxylate dehydrogenase activity", "id": "GO:0140174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140174", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" } ], "pmid": "" } ], "biological_process": [ { "name": "ATP biosynthetic process", "id": "GO:0006754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006754", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" } ], "pmid": "" }, { "name": "lactate catabolic process", "id": "GO:1903457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903457", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TNG8-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Thr228", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Loss of D-lactate dehydrogenase activity. Loss of FAD binding.", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" }, { "database": "PubMed", "id": "37863926", "url": "https://glygen.org/publication/PubMed/37863926" } ] } ] }, { "uniprot_canonical_ac": "Q7TNG8-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Arg347", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of D-lactate dehydrogenase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" }, { "database": "PubMed", "id": "37863926", "url": "https://glygen.org/publication/PubMed/37863926" } ] }, { "sequence_org": "R", "sequence_mut": "W", "comment": "Loss of D-lactate dehydrogenase activity. No effect on FAD binding.", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" }, { "database": "PubMed", "id": "37863926", "url": "https://glygen.org/publication/PubMed/37863926" } ] } ] }, { "uniprot_canonical_ac": "Q7TNG8-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Trp351", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Loss of D-lactate dehydrogenase activity. No effect on FAD binding.", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" }, { "database": "PubMed", "id": "37863926", "url": "https://glygen.org/publication/PubMed/37863926" } ] } ] }, { "uniprot_canonical_ac": "Q7TNG8-1", "start_pos": "398", "end_pos": "398", "site_lbl": "His398", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of D-lactate dehydrogenase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" }, { "database": "PubMed", "id": "37863926", "url": "https://glygen.org/publication/PubMed/37863926" } ] } ] }, { "uniprot_canonical_ac": "Q7TNG8-1", "start_pos": "405", "end_pos": "405", "site_lbl": "His405", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of D-lactate dehydrogenase activity. Loss of Mn(2+) binding.", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" }, { "database": "PubMed", "id": "37863926", "url": "https://glygen.org/publication/PubMed/37863926" } ] } ] }, { "uniprot_canonical_ac": "Q7TNG8-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Thr440", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Loss of D-lactate dehydrogenase activity. Loss of FAD binding.", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" }, { "database": "PubMed", "id": "37863926", "url": "https://glygen.org/publication/PubMed/37863926" } ] } ] }, { "uniprot_canonical_ac": "Q7TNG8-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Glu442", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Loss of D-lactate dehydrogenase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" }, { "database": "PubMed", "id": "37863926", "url": "https://glygen.org/publication/PubMed/37863926" } ] } ] }, { "uniprot_canonical_ac": "Q7TNG8-1", "start_pos": "443", "end_pos": "443", "site_lbl": "His443", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of D-lactate dehydrogenase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q7TNG8", "url": "https://www.uniprot.org/uniprotkb/Q7TNG8" }, { "database": "PubMed", "id": "37863926", "url": "https://glygen.org/publication/PubMed/37863926" } ] } ] } ], "record_id": "Q7TNG8-1" }, { "uniprot_canonical_ac": "Q9JHS3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 125, "chemical_mass": 13480.0, "gene_names": "Lamtor2;2010111E04Rik;Lamtor2;Mapbpip;P14;Rab25;Robld3", "protein_name": "Ragulator complex protein LAMTOR2", "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": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "pmid": "" }, { "name": "positive regulation of TOR signaling", "id": "GO:0032008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "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": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "pmid": "" }, { "name": "fibroblast migration", "id": "GO:0010761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010761", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "pmid": "" }, { "name": "protein localization to cell junction", "id": "GO:1902414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902414", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "pmid": "" }, { "name": "regulation of cell-substrate junction organization", "id": "GO:0150116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150116", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "pmid": "" } ], "cellular_component": [ { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "pmid": "" }, { "name": "Ragulator complex", "id": "GO:0071986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071986", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "pmid": "" }, { "name": "FNIP-folliculin RagC/D GAP", "id": "GO:1990877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990877", "evidence": [ { "database": "UniProtKB", "id": "Q9JHS3", "url": "https://www.uniprot.org/uniprotkb/Q9JHS3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9JHS3-1" }, { "uniprot_canonical_ac": "Q91VN0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1614, "chemical_mass": 178885.0, "gene_names": "Lrp5;BMND1;HBM;LR3;LRP7;Lr3;Lrp5;Lrp7;OPPG;mKIAA4142", "protein_name": "Low-density lipoprotein receptor-related protein 5", "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: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:0060849", "name": "osteoporosis-pseudoglioma syndrome", "description": "A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13.", "url": "https://disease-ontology.org/term/DOID:0060849", "evidence": [ { "id": "0060849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060849" } ], "weight": 0.0 }, { "disease_id": "DOID:0060977", "name": "polycystic liver disease 4", "description": "A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.", "url": "https://disease-ontology.org/term/DOID:0060977", "evidence": [ { "id": "0060977", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060977" } ], "weight": 0.0 }, { "disease_id": "DOID:0060980", "name": "polycystic liver disease 1", "description": "A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0060980", "evidence": [ { "id": "0060980", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060980" } ], "weight": 0.0 }, { "disease_id": "DOID:0080037", "name": "Worth syndrome", "description": "A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate.", "url": "https://disease-ontology.org/term/DOID:0080037", "evidence": [ { "id": "0080037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080037" } ], "weight": 0.0 }, { "disease_id": "DOID:0110937", "name": "autosomal dominant osteopetrosis 1", "description": "An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.", "url": "https://disease-ontology.org/term/DOID:0110937", "evidence": [ { "id": "0110937", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110937" } ], "weight": 0.0 }, { "disease_id": "DOID:0111411", "name": "exudative vitreoretinopathy 4", "description": "An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the LRP5 gene on chromosome 11q13.2.", "url": "https://disease-ontology.org/term/DOID:0111411", "evidence": [ { "id": "0111411", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111411" } ], "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: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: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:12559", "name": "idiopathic juvenile osteoporosis", "description": "An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.", "url": "https://disease-ontology.org/term/DOID:12559", "evidence": [ { "id": "12559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12559" } ], "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: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:971", "name": "tendinitis", "description": "", "url": "https://disease-ontology.org/term/DOID:971", "evidence": [ { "id": "971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:971" } ], "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 } ], "biological_process": [ { "name": "mammary gland duct morphogenesis", "id": "GO:0060603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060603", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "retina morphogenesis in camera-type eye", "id": "GO:0060042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060042", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "establishment of blood-brain barrier", "id": "GO:0060856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060856", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "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": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "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": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "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": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "osteoblast development", "id": "GO:0002076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002076", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "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": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "positive regulation of osteoblast proliferation", "id": "GO:0033690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033690", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "bone remodeling", "id": "GO:0046849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046849", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "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": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "gastrulation with mouth forming second", "id": "GO:0001702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001702", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "cell migration involved in gastrulation", "id": "GO:0042074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042074", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "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": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "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": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "limb morphogenesis", "id": "GO:0035108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035108", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "apoptotic process involved in blood vessel morphogenesis", "id": "GO:1902262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902262", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "extracellular matrix-cell signaling", "id": "GO:0035426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035426", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "mesodermal cell migration", "id": "GO:0008078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008078", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "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": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "bone marrow development", "id": "GO:0048539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048539", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "glucose catabolic process", "id": "GO:0006007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006007", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "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": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "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": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "anatomical structure regression", "id": "GO:0060033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060033", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "retinal blood vessel morphogenesis", "id": "GO:0061304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061304", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "establishment of blood-retinal barrier", "id": "GO:1990963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990963", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "Norrin signaling pathway", "id": "GO:0110135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110135", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" } ], "molecular_function": [ { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "Wnt-protein binding", "id": "GO:0017147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017147", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" }, { "name": "Wnt receptor activity", "id": "GO:0042813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042813", "evidence": [ { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprotkb/Q91VN0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91VN0-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Asn137", "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": "IEVANLNGTSR", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "Q91VN0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91VN0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91VN0-1", "start_pos": "1577", "end_pos": "1577", "site_lbl": "Thr1577", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1577, "start_aa": "Thr", "end_pos": 1577, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1577", "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": "19", "chr_pos": "3635146", "evidence": [ { "id": "rs3553854782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553854782" } ] } ] }, { "uniprot_canonical_ac": "Q91VN0-1", "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": "Q91VN0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91VN0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91VN0-1", "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": "HVLVNTSLGWPNGLALDLQEGK", "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": "Q91VN0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91VN0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91VN0-1", "start_pos": "704", "end_pos": "704", "site_lbl": "Asn704", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 704, "start_aa": "Asn", "end_pos": 704, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn704", "evidence": [ { "id": "Q91VN0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91VN0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91VN0-1", "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": "Q91VN0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91VN0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91VN0-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Asn92", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q91VN0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q91VN0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q91VN0-1", "start_pos": "939", "end_pos": "939", "site_lbl": "Asn939", "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": "NCSPPSTFLLFSQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 939, "start_aa": "Asn", "end_pos": 939, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn939", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q91VN0-1", "start_pos": "871", "end_pos": "871", "site_lbl": "Asp871", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DKT->NKT).", "chr_id": "19", "chr_pos": "3662411", "evidence": [ { "id": "rs3389515701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389515701" } ] } ] } ], "record_id": "Q91VN0-1" }, { "uniprot_canonical_ac": "Q8CG70-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CG70", "url": "https://www.uniprot.org/uniprotkb/Q8CG70" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 732, "chemical_mass": 81701.0, "gene_names": "P3h3;Grcb;Leprel2;P3h3", "protein_name": "Prolyl 3-hydroxylase 3", "disease": [], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q8CG70", "url": "https://www.uniprot.org/uniprotkb/Q8CG70" } ], "pmid": "" }, { "name": "L-ascorbic acid binding", "id": "GO:0031418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031418", "evidence": [ { "database": "UniProtKB", "id": "Q8CG70", "url": "https://www.uniprot.org/uniprotkb/Q8CG70" } ], "pmid": "" }, { "name": "procollagen-proline 3-dioxygenase activity", "id": "GO:0019797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019797", "evidence": [ { "database": "UniProtKB", "id": "Q8CG70", "url": "https://www.uniprot.org/uniprotkb/Q8CG70" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8CG70", "url": "https://www.uniprot.org/uniprotkb/Q8CG70" } ], "pmid": "" }, { "name": "catalytic complex", "id": "GO:1902494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902494", "evidence": [ { "database": "UniProtKB", "id": "Q8CG70", "url": "https://www.uniprot.org/uniprotkb/Q8CG70" } ], "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": "Q8CG70", "url": "https://www.uniprot.org/uniprotkb/Q8CG70" } ], "pmid": "" }, { "name": "collagen biosynthetic process", "id": "GO:0032964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032964", "evidence": [ { "database": "UniProtKB", "id": "Q8CG70", "url": "https://www.uniprot.org/uniprotkb/Q8CG70" } ], "pmid": "" }, { "name": "peptidyl-lysine hydroxylation", "id": "GO:0017185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017185", "evidence": [ { "database": "UniProtKB", "id": "Q8CG70", "url": "https://www.uniprot.org/uniprotkb/Q8CG70" } ], "pmid": "" }, { "name": "collagen metabolic process", "id": "GO:0032963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032963", "evidence": [ { "database": "UniProtKB", "id": "Q8CG70", "url": "https://www.uniprot.org/uniprotkb/Q8CG70" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Asn327", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 327, "start_aa": "Asn", "end_pos": 327, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn327", "evidence": [ { "id": "Q8CG70", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CG70#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Asn458", "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": "DALLMEGVTLTQDAQQLNGSER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 458, "start_aa": "Asn", "end_pos": 458, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn458", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 458, "start_aa": "Asn", "end_pos": 458, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn458", "evidence": [ { "id": "Q8CG70", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CG70#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "658", "end_pos": "658", "site_lbl": "Thr658", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 658, "start_aa": "Thr", "end_pos": 658, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr658", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Val128", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124834268", "evidence": [ { "id": "rs241862322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241862322" } ] }, { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124834269", "evidence": [ { "id": "rs259843565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259843565" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Pro19", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124834595", "evidence": [ { "id": "rs246802777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246802777" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Glu223", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124832218", "evidence": [ { "id": "rs3388860945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388860945" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Gly270", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124832076_124832077insACACTACCTCAACCATCAC", "evidence": [ { "id": "rs3388854301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388854301" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Ile279", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124832050", "evidence": [ { "id": "rs5527847397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527847397" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Ala348", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124831341", "evidence": [ { "id": "rs3388841935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388841935" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Arg378", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124830081", "evidence": [ { "id": "rs3388853771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388853771" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Asp399", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124830017", "evidence": [ { "id": "rs3544828843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544828843" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Arg3", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124834644", "evidence": [ { "id": "rs262357466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262357466" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Glu415", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124828051", "evidence": [ { "id": "rs3388853720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388853720" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Lys440", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124827883", "evidence": [ { "id": "rs3388860856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388860856" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Asp441", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124827881", "evidence": [ { "id": "rs3388823647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388823647" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Ser460", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124827657", "evidence": [ { "id": "rs5527861163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527861163" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Arg462", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124827651", "evidence": [ { "id": "rs3388866740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388866740" } ] }, { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124827650", "evidence": [ { "id": "rs3388836793", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388836793" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Gly475", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124827611", "evidence": [ { "id": "rs3388854352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388854352" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Gln486", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124822997", "evidence": [ { "id": "rs49457944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49457944" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Ala489", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124822987", "evidence": [ { "id": "rs3388858394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388858394" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "494", "end_pos": "494", "site_lbl": "Arg494", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124822972", "evidence": [ { "id": "rs3388854307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388854307" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "587", "end_pos": "587", "site_lbl": "Asp587", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124822223", "evidence": [ { "id": "rs3388858391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388858391" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "593", "end_pos": "593", "site_lbl": "Cys593", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124822203", "evidence": [ { "id": "rs3388863589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388863589" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Glu596", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124822195", "evidence": [ { "id": "rs3388836841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388836841" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "618", "end_pos": "618", "site_lbl": "Gly618", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124822019", "evidence": [ { "id": "rs3388863242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388863242" } ] }, { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124822019", "evidence": [ { "id": "rs3388863242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388863242" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "626", "end_pos": "626", "site_lbl": "Asn626", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124821995", "evidence": [ { "id": "rs3397169117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397169117" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "656", "end_pos": "656", "site_lbl": "Ala656", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124819103", "evidence": [ { "id": "rs3388858349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388858349" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "664", "end_pos": "664", "site_lbl": "Ala664", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124819078", "evidence": [ { "id": "rs3388858383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388858383" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "691", "end_pos": "691", "site_lbl": "Glu691", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124818766", "evidence": [ { "id": "rs3388841890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388841890" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "695", "end_pos": "695", "site_lbl": "Glu695", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124818754", "evidence": [ { "id": "rs3388866752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388866752" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "696", "end_pos": "696", "site_lbl": "Glu696", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124818751", "evidence": [ { "id": "rs5527861114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527861114" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Asp703", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124818730", "evidence": [ { "id": "rs3388854304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388854304" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "708", "end_pos": "708", "site_lbl": "Pro708", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124818715", "evidence": [ { "id": "rs3388860913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388860913" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "711", "end_pos": "711", "site_lbl": "His711", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124818706", "evidence": [ { "id": "rs3388850428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388850428" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "716", "end_pos": "716", "site_lbl": "Val716", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124818691", "evidence": [ { "id": "rs3388863186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388863186" } ] } ] }, { "uniprot_canonical_ac": "Q8CG70-1", "start_pos": "721", "end_pos": "721", "site_lbl": "Gly721", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "6", "chr_pos": "124818675", "evidence": [ { "id": "rs241607052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241607052" } ] } ] } ], "record_id": "Q8CG70-1" }, { "uniprot_canonical_ac": "Q640Q5-5", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q640Q5", "url": "https://www.uniprot.org/uniprotkb/Q640Q5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 887, "chemical_mass": 95451.0, "gene_names": "Pan3;2700050F09Rik;A430027N15Rik;Pan3", "protein_name": "PAN2-PAN3 deadenylation complex subunit Pan3", "disease": [], "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": "Q640Q5", "url": "https://www.uniprot.org/uniprotkb/Q640Q5" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q640Q5", "url": "https://www.uniprot.org/uniprotkb/Q640Q5" } ], "pmid": "" }, { "name": "protein targeting", "id": "GO:0006605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006605", "evidence": [ { "database": "UniProtKB", "id": "Q640Q5", "url": "https://www.uniprot.org/uniprotkb/Q640Q5" } ], "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": "Q640Q5", "url": "https://www.uniprot.org/uniprotkb/Q640Q5" } ], "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": "Q640Q5", "url": "https://www.uniprot.org/uniprotkb/Q640Q5" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q640Q5", "url": "https://www.uniprot.org/uniprotkb/Q640Q5" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q640Q5", "url": "https://www.uniprot.org/uniprotkb/Q640Q5" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q640Q5", "url": "https://www.uniprot.org/uniprotkb/Q640Q5" } ], "pmid": "" }, { "name": "poly(A)-specific ribonuclease activity", "id": "GO:0004535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004535", "evidence": [ { "database": "UniProtKB", "id": "Q640Q5", "url": "https://www.uniprot.org/uniprotkb/Q640Q5" } ], "pmid": "" }, { "name": "poly(A) binding", "id": "GO:0008143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008143", "evidence": [ { "database": "UniProtKB", "id": "Q640Q5", "url": "https://www.uniprot.org/uniprotkb/Q640Q5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q640Q5", "url": "https://www.uniprot.org/uniprotkb/Q640Q5" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q640Q5", "url": "https://www.uniprot.org/uniprotkb/Q640Q5" } ], "pmid": "" }, { "name": "PAN complex", "id": "GO:0031251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031251", "evidence": [ { "database": "UniProtKB", "id": "Q640Q5", "url": "https://www.uniprot.org/uniprotkb/Q640Q5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q640Q5-5", "start_pos": "377", "end_pos": "377", "site_lbl": "Thr377", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 377, "start_aa": "Thr", "end_pos": 377, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr377", "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": "147456443", "evidence": [ { "id": "rs5527409981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527409981" } ] } ] }, { "uniprot_canonical_ac": "Q640Q5-5", "start_pos": "354", "end_pos": "354", "site_lbl": "Ser354", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q640Q5", "url": "https://www.uniprot.org/uniprotkb/Q640Q5" } ] } ] }, { "uniprot_canonical_ac": "Q640Q5-5", "start_pos": "361", "end_pos": "361", "site_lbl": "Ser361", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q640Q5", "url": "https://www.uniprot.org/uniprotkb/Q640Q5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q640Q5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q640Q5" } ] } ] } ], "record_id": "Q640Q5-5" }, { "uniprot_canonical_ac": "P08207-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 97, "chemical_mass": 11186.0, "gene_names": "S100a10;42C;CAL12;CLP11;Cal1l;S100a10;p10;p11", "protein_name": "Protein S100-A10", "disease": [ { "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 } ], "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": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" }, { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "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": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "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": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "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": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "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": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" }, { "name": "membrane raft assembly", "id": "GO:0001765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001765", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" }, { "name": "vesicle budding from membrane", "id": "GO:0006900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006900", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "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": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" }, { "name": "positive regulation of exocytosis", "id": "GO:0045921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045921", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "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": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "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": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" }, { "name": "plasma membrane protein complex", "id": "GO:0098797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098797", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" }, { "name": "AnxA2-p11 complex", "id": "GO:1990665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990665", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P08207", "url": "https://www.uniprot.org/uniprotkb/P08207" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P08207-1" }, { "uniprot_canonical_ac": "Q61045-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61045", "url": "https://www.uniprot.org/uniprotkb/Q61045" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 765, "chemical_mass": 85541.0, "gene_names": "Sim1;Sim1;bHLHe14;mSIM1", "protein_name": "Single-minded homolog 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": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61045", "url": "https://www.uniprot.org/uniprotkb/Q61045" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q61045", "url": "https://www.uniprot.org/uniprotkb/Q61045" } ], "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": "Q61045", "url": "https://www.uniprot.org/uniprotkb/Q61045" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q61045", "url": "https://www.uniprot.org/uniprotkb/Q61045" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q61045", "url": "https://www.uniprot.org/uniprotkb/Q61045" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q61045", "url": "https://www.uniprot.org/uniprotkb/Q61045" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "Q61045", "url": "https://www.uniprot.org/uniprotkb/Q61045" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q61045", "url": "https://www.uniprot.org/uniprotkb/Q61045" } ], "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": "Q61045", "url": "https://www.uniprot.org/uniprotkb/Q61045" } ], "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": "Q61045", "url": "https://www.uniprot.org/uniprotkb/Q61045" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q61045", "url": "https://www.uniprot.org/uniprotkb/Q61045" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q61045-1" }, { "uniprot_canonical_ac": "Q9DBM0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 673, "chemical_mass": 75996.0, "gene_names": "Abcg8;1300003C16Rik;Abcg8;sterolin-2", "protein_name": "ATP-binding cassette sub-family G member 8", "disease": [ { "disease_id": "DOID:0070634", "name": "sitosterolemia 1", "description": "A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene on chromosome 2p21.", "url": "https://disease-ontology.org/term/DOID:0070634", "evidence": [ { "id": "0070634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070634" } ], "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:0090019", "name": "sitosterolemia", "description": "An intestinal disease with autosomal recessive inheritance characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia.", "url": "https://disease-ontology.org/term/DOID:0090019", "evidence": [ { "id": "0090019", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090019" } ], "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: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: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: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": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "cholesterol transfer activity", "id": "GO:0120020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120020", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "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": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" } ], "biological_process": [ { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "negative regulation of intestinal phytosterol absorption", "id": "GO:0010949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010949", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "phospholipid transport", "id": "GO:0015914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015914", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "intestinal cholesterol absorption", "id": "GO:0030299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030299", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "negative regulation of intestinal cholesterol absorption", "id": "GO:0045796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045796", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "sterol transport", "id": "GO:0015918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015918", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" }, { "name": "sterol homeostasis", "id": "GO:0055092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055092", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DBM0-1", "start_pos": "619", "end_pos": "619", "site_lbl": "Asn619", "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": 619, "start_aa": "Asn", "end_pos": 619, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn619", "evidence": [ { "id": "Q9DBM0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0#ptm_processing" }, { "id": "15054092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15054092" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Abolishes N-glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" }, { "database": "PubMed", "id": "15054092", "url": "https://glygen.org/publication/PubMed/15054092" } ] }, { "sequence_org": "N", "sequence_mut": "Q", "comment": "Abolishes N-glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" }, { "database": "PubMed", "id": "15054092", "url": "https://glygen.org/publication/PubMed/15054092" } ] } ] }, { "uniprot_canonical_ac": "Q9DBM0-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Arg112", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "No effect on ATP-binding and on expression of both ABCG5 and ABCG8. No effect on sterol transport.", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" } ] }, { "sequence_org": "R", "sequence_mut": "M", "comment": "No effect on ATP-binding and on expression of both ABCG5 and ABCG8. No effect on sterol transport.", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" } ] } ] }, { "uniprot_canonical_ac": "Q9DBM0-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Val214", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "No effect on sterol transport; when associated with S-216.", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" } ] } ] }, { "uniprot_canonical_ac": "Q9DBM0-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Gly216", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "No effect on sterol transport; when associated with I-214.", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" } ] } ] }, { "uniprot_canonical_ac": "Q9DBM0-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Gly217", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Abolishes cholesterol transport activity, and nearly abolishes plant sterol transport.", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" }, { "database": "PubMed", "id": "16867993", "url": "https://glygen.org/publication/PubMed/16867993" } ] } ] }, { "uniprot_canonical_ac": "Q9DBM0-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Glu239", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "No effect on sterol transport.", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" } ] }, { "sequence_org": "E", "sequence_mut": "Q", "comment": "Mildly decreases cholesterol transport. No effect on plant sterol transport.", "evidence": [ { "database": "UniProtKB", "id": "Q9DBM0", "url": "https://www.uniprot.org/uniprotkb/Q9DBM0" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" } ] } ] } ], "record_id": "Q9DBM0-1" }, { "uniprot_canonical_ac": "A2AJI0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 846, "chemical_mass": 93276.0, "gene_names": "Map7d1;Kiaa1187;Map7d1;Mtap7d1;Parcc1;Rprc1;mKIAA1187", "protein_name": "MAP7 domain-containing protein 1", "disease": [], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ], "pmid": "" } ], "biological_process": [ { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2AJI0-1", "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": "A2AJI0-1", "start_pos": "554", "end_pos": "554", "site_lbl": "Thr554", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 554, "start_aa": "Thr", "end_pos": 554, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr554", "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": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "A2AJI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "581", "end_pos": "581", "site_lbl": "Thr581", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 581, "start_aa": "Thr", "end_pos": 581, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr581", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "591", "end_pos": "591", "site_lbl": "Thr591", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 591, "start_aa": "Thr", "end_pos": 591, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr591", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "843", "end_pos": "843", "site_lbl": "Thr843", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 843, "start_aa": "Thr", "end_pos": 843, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr843", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "A2AJI0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A2AJI0" }, { "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": "A2AJI0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A2AJI0" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Thr99", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 99, "start_aa": "Thr", "end_pos": 99, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr99", "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": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Ser115", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Ser118", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Thr120", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Ser125", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Ser127", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Ser256", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Ser275", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Ser315", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AJI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Ser368", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Ser401", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Ser444", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Ser448", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Ser454", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Ser460", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Ser479", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AJI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Ser496", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AJI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Thr49", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Thr53", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2AJI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "544", "end_pos": "544", "site_lbl": "Ser544", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" }, { "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": "A2AJI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Ser548", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" }, { "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": "A2AJI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Ser552", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" }, { "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": "A2AJI0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "818", "end_pos": "818", "site_lbl": "Thr818", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ] } ] }, { "uniprot_canonical_ac": "A2AJI0-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Ser95", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2AJI0", "url": "https://www.uniprot.org/uniprotkb/A2AJI0" } ] } ] } ], "record_id": "A2AJI0-1" }, { "uniprot_canonical_ac": "Q3UX83-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UX83", "url": "https://www.uniprot.org/uniprotkb/Q3UX83" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 580, "chemical_mass": 66129.0, "gene_names": "Accsl;Accsl;Gm1967", "protein_name": "Probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2", "disease": [], "molecular_function": [ { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "Q3UX83", "url": "https://www.uniprot.org/uniprotkb/Q3UX83" } ], "pmid": "" }, { "name": "transaminase activity", "id": "GO:0008483", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008483", "evidence": [ { "database": "UniProtKB", "id": "Q3UX83", "url": "https://www.uniprot.org/uniprotkb/Q3UX83" } ], "pmid": "" } ], "biological_process": [ { "name": "amino acid metabolic process", "id": "GO:0006520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006520", "evidence": [ { "database": "UniProtKB", "id": "Q3UX83", "url": "https://www.uniprot.org/uniprotkb/Q3UX83" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3UX83-1" }, { "uniprot_canonical_ac": "P32261-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P32261", "url": "https://www.uniprot.org/uniprotkb/P32261" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 465, "chemical_mass": 52004.0, "gene_names": "Serpinc1;ATIII;At-3;At3;Serpinc1", "protein_name": "Antithrombin-III", "disease": [ { "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: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: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: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: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 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "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: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:3755", "name": "antithrombin III deficiency", "description": "A thrombophilia that is characterized by the tendency to form clots in the veins.", "url": "https://disease-ontology.org/term/DOID:3755", "evidence": [ { "id": "3755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3755" } ], "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: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": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P32261", "url": "https://www.uniprot.org/uniprotkb/P32261" } ], "pmid": "" }, { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "P32261", "url": "https://www.uniprot.org/uniprotkb/P32261" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P32261", "url": "https://www.uniprot.org/uniprotkb/P32261" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P32261", "url": "https://www.uniprot.org/uniprotkb/P32261" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P32261", "url": "https://www.uniprot.org/uniprotkb/P32261" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P32261", "url": "https://www.uniprot.org/uniprotkb/P32261" } ], "pmid": "" } ], "biological_process": [ { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P32261", "url": "https://www.uniprot.org/uniprotkb/P32261" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P32261", "url": "https://www.uniprot.org/uniprotkb/P32261" } ], "pmid": "" }, { "name": "regulation of blood coagulation", "id": "GO:0030193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030193", "evidence": [ { "database": "UniProtKB", "id": "P32261", "url": "https://www.uniprot.org/uniprotkb/P32261" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P32261-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Asn129", "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": "LGACNDTLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 129, "start_aa": "Asn", "end_pos": 129, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn129", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 129, "start_aa": "Asn", "end_pos": 129, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn129", "evidence": [ { "id": "P32261", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32261#ptm_processing" }, { "id": "17330941", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17330941" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NDT->KDT); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817294", "evidence": [ { "id": "rs3388510787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510787" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Asn168", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "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": "P32261", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32261#ptm_processing" }, { "id": "17330941", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17330941" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Asn188", "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": 188, "start_aa": "Asn", "end_pos": 188, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn188", "evidence": [ { "id": "P32261", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32261#ptm_processing" }, { "id": "17330941", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17330941" }, { "id": "16944957", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16944957" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Asn225", "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": "VTINNWVANK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 225, "start_aa": "Asn", "end_pos": 225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn225", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 225, "start_aa": "Asn", "end_pos": 225, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn225", "evidence": [ { "id": "P32261", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32261#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Thr64", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P32261", "url": "https://www.uniprot.org/uniprotkb/P32261" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Ser69", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P32261", "url": "https://www.uniprot.org/uniprotkb/P32261" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Lys261", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (KFS->NFS); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160824937", "evidence": [ { "id": "rs3388512965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388512965" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Met122", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817272", "evidence": [ { "id": "rs3388511421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511421" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Cys128", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817290", "evidence": [ { "id": "rs3388508366", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388508366" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Leu135", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817311", "evidence": [ { "id": "rs3388509436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509436" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Met136", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817314", "evidence": [ { "id": "rs3388506998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388506998" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Asp142", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160820979", "evidence": [ { "id": "rs3388509447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509447" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Asp150", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160821002", "evidence": [ { "id": "rs3413145644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413145644" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Phe154", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160821014", "evidence": [ { "id": "rs3388507012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388507012" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Asp172", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160821068", "evidence": [ { "id": "rs227108953", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227108953" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Val174", "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": "160821074", "evidence": [ { "id": "rs3388512922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388512922" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Cys17", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160816995", "evidence": [ { "id": "rs3388511804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511804" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Leu18", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160816960", "evidence": [ { "id": "rs3388511151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511151" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Gln214", "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": "160822901", "evidence": [ { "id": "rs3388511345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511345" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Lys259", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160824929", "evidence": [ { "id": "rs3388508165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388508165" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Lys269", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160824960", "evidence": [ { "id": "rs3388510418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510418" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Pro271", "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": "160824965", "evidence": [ { "id": "rs261982908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261982908" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Gly28", "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": "160816990", "evidence": [ { "id": "rs238171425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238171425" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Leu305", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160825067", "evidence": [ { "id": "rs3388508572", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388508572" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "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": "1", "chr_pos": "160816995", "evidence": [ { "id": "rs3388511804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511804" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Thr347", "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": "160825194", "evidence": [ { "id": "rs233796502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233796502" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "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, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160825205", "evidence": [ { "id": "rs5525178272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525178272" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Gly361", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160825236", "evidence": [ { "id": "rs3388509786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509786" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Leu368", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160825256", "evidence": [ { "id": "rs3388511370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511370" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Met371", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160825266", "evidence": [ { "id": "rs13460840", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13460840" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Leu376", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160825280", "evidence": [ { "id": "rs49991990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49991990" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Gln383", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160825301", "evidence": [ { "id": "rs3388506037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388506037" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Ser413", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160829872", "evidence": [ { "id": "rs3388509778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509778" } ] }, { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160829873", "evidence": [ { "id": "rs3388509850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509850" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Ala417", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160829885", "evidence": [ { "id": "rs3388508347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388508347" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Thr419", "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": "160829891", "evidence": [ { "id": "rs3388507074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388507074" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Cys41", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817029", "evidence": [ { "id": "rs3413058601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413058601" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Leu450", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160829984", "evidence": [ { "id": "rs3388509871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509871" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Phe455", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160829998", "evidence": [ { "id": "rs3388511742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511742" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ile48", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817049", "evidence": [ { "id": "rs3388511386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511386" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Val50", "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": "160817055", "evidence": [ { "id": "rs3388509852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509852" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Asn51", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817059", "evidence": [ { "id": "rs3388511771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511771" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Pro52", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817062", "evidence": [ { "id": "rs3388511218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388511218" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Glu75", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817132", "evidence": [ { "id": "rs3388510778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388510778" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Arg79", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817143", "evidence": [ { "id": "rs3388509817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388509817" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Lys86", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817165", "evidence": [ { "id": "rs3388508585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388508585" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Ser89", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817173", "evidence": [ { "id": "rs3388508396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388508396" } ] } ] }, { "uniprot_canonical_ac": "P32261-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Phe91", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "1", "chr_pos": "160817178", "evidence": [ { "id": "rs13460842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13460842" } ] } ] } ], "record_id": "P32261-1" }, { "uniprot_canonical_ac": "Q78XR0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q78XR0", "url": "https://www.uniprot.org/uniprotkb/Q78XR0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 159, "chemical_mass": 17430.0, "gene_names": "Trappc6a;1810073E21Rik;4930519D19Rik;TRS33;Trappc6a;mhyp", "protein_name": "Trafficking protein particle complex subunit 6A", "disease": [ { "disease_id": "DOID:0060934", "name": "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy", "description": "An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21.", "url": "https://disease-ontology.org/term/DOID:0060934", "evidence": [ { "id": "0060934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060934" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q78XR0", "url": "https://www.uniprot.org/uniprotkb/Q78XR0" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q78XR0", "url": "https://www.uniprot.org/uniprotkb/Q78XR0" } ], "pmid": "" }, { "name": "cis-Golgi network", "id": "GO:0005801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005801", "evidence": [ { "database": "UniProtKB", "id": "Q78XR0", "url": "https://www.uniprot.org/uniprotkb/Q78XR0" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q78XR0", "url": "https://www.uniprot.org/uniprotkb/Q78XR0" } ], "pmid": "" }, { "name": "TRAPP complex", "id": "GO:0030008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030008", "evidence": [ { "database": "UniProtKB", "id": "Q78XR0", "url": "https://www.uniprot.org/uniprotkb/Q78XR0" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q78XR0", "url": "https://www.uniprot.org/uniprotkb/Q78XR0" } ], "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": "Q78XR0", "url": "https://www.uniprot.org/uniprotkb/Q78XR0" } ], "pmid": "" }, { "name": "COPII vesicle coating", "id": "GO:0048208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048208", "evidence": [ { "database": "UniProtKB", "id": "Q78XR0", "url": "https://www.uniprot.org/uniprotkb/Q78XR0" } ], "pmid": "" }, { "name": "vesicle tethering", "id": "GO:0099022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099022", "evidence": [ { "database": "UniProtKB", "id": "Q78XR0", "url": "https://www.uniprot.org/uniprotkb/Q78XR0" } ], "pmid": "" }, { "name": "Golgi vesicle transport", "id": "GO:0048193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048193", "evidence": [ { "database": "UniProtKB", "id": "Q78XR0", "url": "https://www.uniprot.org/uniprotkb/Q78XR0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q78XR0-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Ser33", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q78XR0", "url": "https://www.uniprot.org/uniprotkb/Q78XR0" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q78XR0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q78XR0" } ] } ] } ], "record_id": "Q78XR0-1" }, { "uniprot_canonical_ac": "O35600-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2310, "chemical_mass": 260209.0, "gene_names": "Abca4;Abc10;Abca4;Abcr;D430003I15Rik;RmP", "protein_name": "Retinal-specific phospholipid-transporting ATPase ABCA4", "disease": [ { "disease_id": "DOID:0050817", "name": "Stargardt disease", "description": "An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.", "url": "https://disease-ontology.org/term/DOID:0050817", "evidence": [ { "id": "0050817", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050817" } ], "weight": 0.0 }, { "disease_id": "DOID:0061106", "name": "retinitis pigmentosa 91", "description": "A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on chromosome 6q14.", "url": "https://disease-ontology.org/term/DOID:0061106", "evidence": [ { "id": "0061106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061106" } ], "weight": 0.0 }, { "disease_id": "DOID:0110015", "name": "age related macular degeneration 2", "description": "An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.", "url": "https://disease-ontology.org/term/DOID:0110015", "evidence": [ { "id": "0110015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110015" } ], "weight": 0.0 }, { "disease_id": "DOID:0110354", "name": "retinitis pigmentosa 19", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22.", "url": "https://disease-ontology.org/term/DOID:0110354", "evidence": [ { "id": "0110354", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110354" } ], "weight": 0.0 }, { "disease_id": "DOID:0111013", "name": "cone-rod dystrophy 3", "description": "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22.", "url": "https://disease-ontology.org/term/DOID:0111013", "evidence": [ { "id": "0111013", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111013" } ], "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: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: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:8501", "name": "fundus dystrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:8501", "evidence": [ { "id": "8501", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8501" } ], "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": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "phospholipid transfer to membrane", "id": "GO:0006649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006649", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "phospholipid translocation", "id": "GO:0045332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045332", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "retinal metabolic process", "id": "GO:0042574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042574", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "all-trans retinal binding", "id": "GO:0005503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005503", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "phospholipid transporter activity", "id": "GO:0005548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005548", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "phosphatidylethanolamine flippase activity", "id": "GO:0090555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090555", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "retinoid binding", "id": "GO:0005501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005501", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "11-cis retinal binding", "id": "GO:0005502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005502", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "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": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "flippase activity", "id": "GO:0140327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140327", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "N-retinylidene-phosphatidylethanolamine flippase activity", "id": "GO:0140347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140347", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "rod photoreceptor disc membrane", "id": "GO:0120202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120202", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35600-1", "start_pos": "1468", "end_pos": "1468", "site_lbl": "Asn1468", "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": "TPSVSPNITHLFQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1468, "start_aa": "Asn", "end_pos": 1468, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1468", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 1468, "start_aa": "Asn", "end_pos": 1468, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1468", "evidence": [ { "id": "O35600", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35600#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35600-1", "start_pos": "1528", "end_pos": "1528", "site_lbl": "Asn1528", "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": "TQRSTEVLQDLTNRNISDYLVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1528, "start_aa": "Asn", "end_pos": 1528, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1528", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 1528, "start_aa": "Asn", "end_pos": 1528, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1528", "evidence": [ { "id": "O35600", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35600#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35600-1", "start_pos": "1587", "end_pos": "1587", "site_lbl": "Asn1587", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1587, "start_aa": "Asn", "end_pos": 1587, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1587", "evidence": [ { "id": "O35600", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35600#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35600-1", "start_pos": "1661", "end_pos": "1661", "site_lbl": "Asn1661", "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": "DRDPEEYGITVISQPLNLTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1661, "start_aa": "Asn", "end_pos": 1661, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1661", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 1661, "start_aa": "Asn", "end_pos": 1661, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1661", "evidence": [ { "id": "O35600", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35600#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35600-1", "start_pos": "1932", "end_pos": "1932", "site_lbl": "Asn1932", "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": 1932, "start_aa": "Asn", "end_pos": 1932, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1932", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2683", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2683" } ] }, { "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": 1932, "start_aa": "Asn", "end_pos": 1932, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1932", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2683", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2683" } ] }, { "glytoucan_ac": "G41071NU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "VMSGGNKTDILK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1932, "start_aa": "Asn", "end_pos": 1932, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1932", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 1932, "start_aa": "Asn", "end_pos": 1932, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1932", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2683", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2683" } ] } ] }, { "uniprot_canonical_ac": "O35600-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Asn415", "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": "NANSTFEELDR", "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": "O35600", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35600#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35600-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Asn504", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G86880BF", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DIFNITDR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 504, "start_aa": "Asn", "end_pos": 504, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn504", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 504, "start_aa": "Asn", "end_pos": 504, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn504", "evidence": [ { "id": "O35600", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35600#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35600-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Asn98", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "O35600", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O35600#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O35600-1", "start_pos": "1185", "end_pos": "1185", "site_lbl": "Ser1185", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ] } ] }, { "uniprot_canonical_ac": "O35600-1", "start_pos": "901", "end_pos": "901", "site_lbl": "Thr901", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35600", "url": "https://www.uniprot.org/uniprotkb/O35600" } ] } ] }, { "uniprot_canonical_ac": "O35600-1", "start_pos": "1107", "end_pos": "1107", "site_lbl": "Tyr1107", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YRS->NRS).", "chr_id": "3", "chr_pos": "121920599", "evidence": [ { "id": "rs3388649701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388649701" } ] } ] } ], "record_id": "O35600-1" }, { "uniprot_canonical_ac": "P56379-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P56379", "url": "https://www.uniprot.org/uniprotkb/P56379" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 58, "chemical_mass": 6698.0, "gene_names": "Atp5mj;2010107E04Rik;9430003J03Rik;Atp5mj;Atp5mpl;MLQ;Mp68", "protein_name": "ATP synthase F(0) complex subunit j, mitochondrial", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P56379", "url": "https://www.uniprot.org/uniprotkb/P56379" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P56379", "url": "https://www.uniprot.org/uniprotkb/P56379" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "P56379", "url": "https://www.uniprot.org/uniprotkb/P56379" } ], "pmid": "" }, { "name": "proton-transporting ATP synthase complex", "id": "GO:0045259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045259", "evidence": [ { "database": "UniProtKB", "id": "P56379", "url": "https://www.uniprot.org/uniprotkb/P56379" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P56379-1" }, { "uniprot_canonical_ac": "Q6P1F6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6P1F6", "url": "https://www.uniprot.org/uniprotkb/Q6P1F6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 447, "chemical_mass": 51692.0, "gene_names": "Ppp2r2a;2410004D02Rik;B55;Ppp2r2a;mKIAA1541", "protein_name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform", "disease": [ { "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q6P1F6", "url": "https://www.uniprot.org/uniprotkb/Q6P1F6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6P1F6", "url": "https://www.uniprot.org/uniprotkb/Q6P1F6" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q6P1F6", "url": "https://www.uniprot.org/uniprotkb/Q6P1F6" } ], "pmid": "" }, { "name": "protein phosphatase type 2A complex", "id": "GO:0000159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000159", "evidence": [ { "database": "UniProtKB", "id": "Q6P1F6", "url": "https://www.uniprot.org/uniprotkb/Q6P1F6" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein phosphatase regulator activity", "id": "GO:0019888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019888", "evidence": [ { "database": "UniProtKB", "id": "Q6P1F6", "url": "https://www.uniprot.org/uniprotkb/Q6P1F6" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q6P1F6", "url": "https://www.uniprot.org/uniprotkb/Q6P1F6" } ], "pmid": "" }, { "name": "tau protein binding", "id": "GO:0048156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048156", "evidence": [ { "database": "UniProtKB", "id": "Q6P1F6", "url": "https://www.uniprot.org/uniprotkb/Q6P1F6" } ], "pmid": "" }, { "name": "protein phosphatase 2A binding", "id": "GO:0051721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051721", "evidence": [ { "database": "UniProtKB", "id": "Q6P1F6", "url": "https://www.uniprot.org/uniprotkb/Q6P1F6" } ], "pmid": "" }, { "name": "enzyme-substrate adaptor activity", "id": "GO:0140767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140767", "evidence": [ { "database": "UniProtKB", "id": "Q6P1F6", "url": "https://www.uniprot.org/uniprotkb/Q6P1F6" } ], "pmid": "" } ], "biological_process": [ { "name": "response to morphine", "id": "GO:0043278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043278", "evidence": [ { "database": "UniProtKB", "id": "Q6P1F6", "url": "https://www.uniprot.org/uniprotkb/Q6P1F6" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "Q6P1F6", "url": "https://www.uniprot.org/uniprotkb/Q6P1F6" } ], "pmid": "" }, { "name": "regulation of chromosome segregation", "id": "GO:0051983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051983", "evidence": [ { "database": "UniProtKB", "id": "Q6P1F6", "url": "https://www.uniprot.org/uniprotkb/Q6P1F6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6P1F6-1" }, { "uniprot_canonical_ac": "A2A3V1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2A3V1", "url": "https://www.uniprot.org/uniprotkb/A2A3V1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 959, "chemical_mass": 111066.0, "gene_names": "Akap17b;AKAP-17B;Akap17b;B230333C21Rik;C230056F04Rik;PRKA17B;Sfrs17b;Srsf17b;Talia", "protein_name": "A-kinase anchor protein 17B", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "A2A3V1", "url": "https://www.uniprot.org/uniprotkb/A2A3V1" } ], "pmid": "" }, { "name": "protein kinase A binding", "id": "GO:0051018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051018", "evidence": [ { "database": "UniProtKB", "id": "A2A3V1", "url": "https://www.uniprot.org/uniprotkb/A2A3V1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A2A3V1", "url": "https://www.uniprot.org/uniprotkb/A2A3V1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2A3V1", "url": "https://www.uniprot.org/uniprotkb/A2A3V1" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "A2A3V1", "url": "https://www.uniprot.org/uniprotkb/A2A3V1" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "A2A3V1", "url": "https://www.uniprot.org/uniprotkb/A2A3V1" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "A2A3V1", "url": "https://www.uniprot.org/uniprotkb/A2A3V1" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "A2A3V1", "url": "https://www.uniprot.org/uniprotkb/A2A3V1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A2A3V1-1", "start_pos": "671", "end_pos": "671", "site_lbl": "Ser671", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A3V1", "url": "https://www.uniprot.org/uniprotkb/A2A3V1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2A3V1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2A3V1" } ] } ] }, { "uniprot_canonical_ac": "A2A3V1-1", "start_pos": "678", "end_pos": "678", "site_lbl": "Ser678", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A2A3V1", "url": "https://www.uniprot.org/uniprotkb/A2A3V1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "A2A3V1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2A3V1" } ] } ] } ], "record_id": "A2A3V1-1" }, { "uniprot_canonical_ac": "P37172-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 509, "chemical_mass": 57226.0, "gene_names": "Acvr1;ALK2;ActR-I;ActRIA;Acvr1a;Acvr1;Acvrlk2;Acvr;Alk-2;Alk8;D330013D15Rik;SKR1;Tgfb1;Tsk7L", "protein_name": "Activin receptor type-1", "disease": [ { "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: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: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: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: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: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": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "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": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "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": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "urogenital system development", "id": "GO:0001655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001655", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "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": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "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": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "activin receptor signaling pathway", "id": "GO:0032924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032924", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "cellular response to BMP stimulus", "id": "GO:0071773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071773", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "gastrulation with mouth forming second", "id": "GO:0001702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001702", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "acute inflammatory response", "id": "GO:0002526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002526", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "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": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "mesoderm formation", "id": "GO:0001707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001707", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "embryonic heart tube morphogenesis", "id": "GO:0003143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003143", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "atrioventricular valve morphogenesis", "id": "GO:0003181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003181", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "mitral valve morphogenesis", "id": "GO:0003183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003183", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "endocardial cushion fusion", "id": "GO:0003274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003274", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "atrial septum primum morphogenesis", "id": "GO:0003289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003289", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "negative regulation of signal transduction", "id": "GO:0009968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009968", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "regulation of ossification", "id": "GO:0030278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030278", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "negative regulation of activin receptor signaling pathway", "id": "GO:0032926", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032926", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "smooth muscle cell differentiation", "id": "GO:0051145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051145", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "pharyngeal system development", "id": "GO:0060037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060037", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "ventricular septum morphogenesis", "id": "GO:0060412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060412", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "cardiac muscle cell fate commitment", "id": "GO:0060923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060923", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "endocardial cushion cell fate commitment", "id": "GO:0061445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061445", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "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": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "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": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "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": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "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": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "endocardial cushion formation", "id": "GO:0003272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003272", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "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": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "positive regulation of cardiac epithelial to mesenchymal transition", "id": "GO:0062043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062043", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "growth factor binding", "id": "GO:0019838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019838", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "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": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "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": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "activin receptor activity, type I", "id": "GO:0016361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016361", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "activin binding", "id": "GO:0048185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048185", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "transforming growth factor beta binding", "id": "GO:0050431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050431", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "BMP receptor activity", "id": "GO:0098821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098821", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "protein tyrosine kinase binding", "id": "GO:1990782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990782", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "activin receptor complex", "id": "GO:0048179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048179", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "BMP receptor complex", "id": "GO:0070724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070724", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P37172-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Asn102", "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": "NITAQLPTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 102, "start_aa": "Asn", "end_pos": 102, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn102", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 102, "start_aa": "Asn", "end_pos": 102, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn102", "evidence": [ { "id": "P37172", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P37172#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P37172-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Ser501", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P37172", "url": "https://www.uniprot.org/uniprotkb/P37172" } ] } ] } ], "record_id": "P37172-1" }, { "uniprot_canonical_ac": "D0G895-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D0G895", "url": "https://www.uniprot.org/uniprotkb/D0G895" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 737, "chemical_mass": 85874.0, "gene_names": "Ace3;Ace3;EG217246", "protein_name": "Angiotensin-converting enzyme-like protein Ace3", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "D0G895", "url": "https://www.uniprot.org/uniprotkb/D0G895" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "D0G895", "url": "https://www.uniprot.org/uniprotkb/D0G895" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "D0G895", "url": "https://www.uniprot.org/uniprotkb/D0G895" } ], "pmid": "" }, { "name": "acrosomal membrane", "id": "GO:0002080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002080", "evidence": [ { "database": "UniProtKB", "id": "D0G895", "url": "https://www.uniprot.org/uniprotkb/D0G895" } ], "pmid": "" } ], "molecular_function": [ { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "D0G895", "url": "https://www.uniprot.org/uniprotkb/D0G895" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "D0G895", "url": "https://www.uniprot.org/uniprotkb/D0G895" } ], "pmid": "" }, { "name": "peptidyl-dipeptidase activity", "id": "GO:0008241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008241", "evidence": [ { "database": "UniProtKB", "id": "D0G895", "url": "https://www.uniprot.org/uniprotkb/D0G895" } ], "pmid": "" } ], "biological_process": [ { "name": "angiotensin maturation", "id": "GO:0002003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002003", "evidence": [ { "database": "UniProtKB", "id": "D0G895", "url": "https://www.uniprot.org/uniprotkb/D0G895" } ], "pmid": "" }, { "name": "positive regulation of systemic arterial blood pressure", "id": "GO:0003084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003084", "evidence": [ { "database": "UniProtKB", "id": "D0G895", "url": "https://www.uniprot.org/uniprotkb/D0G895" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D0G895-1", "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": "D0G895", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/D0G895#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "D0G895-1", "start_pos": "674", "end_pos": "674", "site_lbl": "Thr674", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 674, "start_aa": "Thr", "end_pos": 674, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr674", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "D0G895", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/D0G895" } ] } ] }, { "uniprot_canonical_ac": "D0G895-1", "start_pos": "646", "end_pos": "646", "site_lbl": "Ser646", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SMS->NMS).", "chr_id": "11", "chr_pos": "105895992", "evidence": [ { "id": "rs3402747241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402747241" } ] } ] } ], "record_id": "D0G895-1" }, { "uniprot_canonical_ac": "P53368-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 156, "chemical_mass": 17908.0, "gene_names": "Nudt1;Mth1;Nudt1", "protein_name": "Oxidized purine nucleoside triphosphate hydrolase", "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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity", "id": "GO:0008413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008413", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "snoRNA binding", "id": "GO:0030515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030515", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity", "id": "GO:0035539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035539", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "ATP diphosphatase activity", "id": "GO:0047693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047693", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides", "id": "GO:0016818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016818", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "dATP diphosphatase activity", "id": "GO:0008828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008828", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "2-hydroxy-ATP hydrolase activity", "id": "GO:0106377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106377", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "2-hydroxy-dATP hydrolase activity", "id": "GO:0106378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106378", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "N6-methyl-(d)ATP hydrolase activity", "id": "GO:0106431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106431", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "O6-methyl-dGTP hydrolase activity", "id": "GO:0106433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106433", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA protection", "id": "GO:0042262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042262", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" }, { "name": "purine nucleoside catabolic process", "id": "GO:0006152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006152", "evidence": [ { "database": "UniProtKB", "id": "P53368", "url": "https://www.uniprot.org/uniprotkb/P53368" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P53368-1" }, { "uniprot_canonical_ac": "Q9CZW4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 720, "chemical_mass": 80492.0, "gene_names": "Acsl3;2610510B12Rik;Acs3;Acsl3;Facl3;LACS 3;Pro2194", "protein_name": "Fatty acid CoA ligase Acsl3", "disease": [ { "disease_id": "DOID:0050776", "name": "non-syndromic X-linked intellectual disability", "description": "A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.", "url": "https://disease-ontology.org/term/DOID:0050776", "evidence": [ { "id": "0050776", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ], "weight": 0.0 }, { "disease_id": "DOID:0112050", "name": "non-syndromic X-linked intellectual disability 63", "description": "A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23.", "url": "https://disease-ontology.org/term/DOID:0112050", "evidence": [ { "id": "0112050", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112050" } ], "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: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: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: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: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": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle assembly", "id": "GO:0034379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034379", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" }, { "name": "positive regulation of Golgi to plasma membrane protein transport", "id": "GO:0042998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042998", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "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": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" }, { "name": "positive regulation of secretion", "id": "GO:0051047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051047", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylcholine biosynthetic process", "id": "GO:2001247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001247", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" }, { "name": "long-chain fatty-acyl-CoA metabolic process", "id": "GO:0035336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035336", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "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": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" }, { "name": "arachidonate-CoA ligase activity", "id": "GO:0047676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047676", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "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": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CZW4-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Asn534", "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": "GEILIGGQNVTMGYYK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 534, "start_aa": "Asn", "end_pos": 534, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn534", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q9CZW4-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 6, "start_aa": "Ser", "end_pos": 6, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser6", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q9CZW4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9CZW4" } ] } ] }, { "uniprot_canonical_ac": "Q9CZW4-1", "start_pos": "683", "end_pos": "683", "site_lbl": "Ser683", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZW4", "url": "https://www.uniprot.org/uniprotkb/Q9CZW4" } ] } ] } ], "record_id": "Q9CZW4-1" }, { "uniprot_canonical_ac": "P26150-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 373, "chemical_mass": 42031.0, "gene_names": "Hsd3b3;9030618K22Rik;Hsd3b3", "protein_name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 3", "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: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: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 } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" } ], "molecular_function": [ { "name": "3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity", "id": "GO:0003854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003854", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" }, { "name": "steroid Delta-isomerase activity", "id": "GO:0004769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004769", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "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": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" } ], "biological_process": [ { "name": "C21-steroid hormone biosynthetic process", "id": "GO:0006700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006700", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" }, { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" }, { "name": "androgen biosynthetic process", "id": "GO:0006702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006702", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" }, { "name": "C21-steroid hormone metabolic process", "id": "GO:0008207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008207", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" }, { "name": "negative regulation of iron ion transport", "id": "GO:0034757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034757", "evidence": [ { "database": "UniProtKB", "id": "P26150", "url": "https://www.uniprot.org/uniprotkb/P26150" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P26150-1" }, { "uniprot_canonical_ac": "Q04841-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q04841", "url": "https://www.uniprot.org/uniprotkb/Q04841" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 333, "chemical_mass": 36472.0, "gene_names": "Mpg;9830006D05;APNG;Aag;Mid1;Mpg", "protein_name": "DNA-3-methyladenine glycosylase", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q04841", "url": "https://www.uniprot.org/uniprotkb/Q04841" } ], "pmid": "" }, { "name": "alkylbase DNA N-glycosylase activity", "id": "GO:0003905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003905", "evidence": [ { "database": "UniProtKB", "id": "Q04841", "url": "https://www.uniprot.org/uniprotkb/Q04841" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q04841", "url": "https://www.uniprot.org/uniprotkb/Q04841" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q04841", "url": "https://www.uniprot.org/uniprotkb/Q04841" } ], "pmid": "" }, { "name": "mitochondrial nucleoid", "id": "GO:0042645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042645", "evidence": [ { "database": "UniProtKB", "id": "Q04841", "url": "https://www.uniprot.org/uniprotkb/Q04841" } ], "pmid": "" } ], "biological_process": [ { "name": "base-excision repair", "id": "GO:0006284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006284", "evidence": [ { "database": "UniProtKB", "id": "Q04841", "url": "https://www.uniprot.org/uniprotkb/Q04841" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q04841-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Ser272", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q04841", "url": "https://www.uniprot.org/uniprotkb/Q04841" } ] } ] }, { "uniprot_canonical_ac": "Q04841-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Ser98", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q04841", "url": "https://www.uniprot.org/uniprotkb/Q04841" } ] } ] } ], "record_id": "Q04841-1" }, { "uniprot_canonical_ac": "P31387-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P31387", "url": "https://www.uniprot.org/uniprotkb/P31387" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 370, "chemical_mass": 41201.0, "gene_names": "Htr5b;5ht5b", "protein_name": "5-hydroxytryptamine receptor 5B", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P31387", "url": "https://www.uniprot.org/uniprotkb/P31387" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P31387", "url": "https://www.uniprot.org/uniprotkb/P31387" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P31387", "url": "https://www.uniprot.org/uniprotkb/P31387" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "P31387", "url": "https://www.uniprot.org/uniprotkb/P31387" } ], "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": "P31387", "url": "https://www.uniprot.org/uniprotkb/P31387" } ], "pmid": "" }, { "name": "neurotransmitter receptor activity", "id": "GO:0030594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030594", "evidence": [ { "database": "UniProtKB", "id": "P31387", "url": "https://www.uniprot.org/uniprotkb/P31387" } ], "pmid": "" }, { "name": "Gi/o-coupled serotonin receptor activity", "id": "GO:0001586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001586", "evidence": [ { "database": "UniProtKB", "id": "P31387", "url": "https://www.uniprot.org/uniprotkb/P31387" } ], "pmid": "" } ], "biological_process": [ { "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": "P31387", "url": "https://www.uniprot.org/uniprotkb/P31387" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P31387", "url": "https://www.uniprot.org/uniprotkb/P31387" } ], "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": "P31387", "url": "https://www.uniprot.org/uniprotkb/P31387" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P31387-1", "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" } ] } ] }, { "uniprot_canonical_ac": "P31387-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Thr35", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 35, "start_aa": "Thr", "end_pos": 35, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr35", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P31387-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Asn5", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 5, "start_aa": "Asn", "end_pos": 5, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn5", "evidence": [ { "id": "P31387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31387#ptm_processing" } ] } ] } ], "record_id": "P31387-1" }, { "uniprot_canonical_ac": "O35469-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 373, "chemical_mass": 41977.0, "gene_names": "Hsd3b6;Hsd3b6", "protein_name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 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 }, { "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: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: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 } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" } ], "molecular_function": [ { "name": "3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity", "id": "GO:0003854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003854", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" }, { "name": "steroid Delta-isomerase activity", "id": "GO:0004769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004769", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "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": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" } ], "biological_process": [ { "name": "C21-steroid hormone biosynthetic process", "id": "GO:0006700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006700", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" }, { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" }, { "name": "androgen biosynthetic process", "id": "GO:0006702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006702", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" }, { "name": "mineralocorticoid biosynthetic process", "id": "GO:0006705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006705", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" }, { "name": "C21-steroid hormone metabolic process", "id": "GO:0008207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008207", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" }, { "name": "negative regulation of iron ion transport", "id": "GO:0034757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034757", "evidence": [ { "database": "UniProtKB", "id": "O35469", "url": "https://www.uniprot.org/uniprotkb/O35469" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O35469-1" }, { "uniprot_canonical_ac": "O88987-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 864, "chemical_mass": 95556.0, "gene_names": "Akap3;Akap110;Akap3;Prka3", "protein_name": "A-kinase anchor protein 3", "disease": [ { "disease_id": "DOID:0070581", "name": "spermatogenic failure 82", "description": "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella that has_material_basis_in homozygous mutation in the AKAP3 gene on chromosome 12p13.32.", "url": "https://disease-ontology.org/term/DOID:0070581", "evidence": [ { "id": "0070581", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070581" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ], "pmid": "" }, { "name": "sperm fibrous sheath", "id": "GO:0035686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035686", "evidence": [ { "database": "UniProtKB", "id": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ], "pmid": "" } ], "biological_process": [ { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ], "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": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ], "pmid": "" }, { "name": "blastocyst hatching", "id": "GO:0001835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001835", "evidence": [ { "database": "UniProtKB", "id": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ], "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": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88987-1", "start_pos": "644", "end_pos": "644", "site_lbl": "Thr644", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 644, "start_aa": "Thr", "end_pos": 644, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr644", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "O88987-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ] } ] }, { "uniprot_canonical_ac": "O88987-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Ser206", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ] } ] }, { "uniprot_canonical_ac": "O88987-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Ser405", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ] } ] }, { "uniprot_canonical_ac": "O88987-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Tyr406", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O88987", "url": "https://www.uniprot.org/uniprotkb/O88987" } ] } ] }, { "uniprot_canonical_ac": "O88987-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Pro485", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAP->NAT).", "chr_id": "6", "chr_pos": "126842835", "evidence": [ { "id": "rs3388842822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388842822" } ] } ] } ], "record_id": "O88987-1" }, { "uniprot_canonical_ac": "P13011-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P13011", "url": "https://www.uniprot.org/uniprotkb/P13011" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 358, "chemical_mass": 40916.0, "gene_names": "Scd2;Mir5114;Scd-2;Scd2;mir-5114;swty", "protein_name": "Stearoyl-CoA desaturase 2", "disease": [ { "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": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P13011", "url": "https://www.uniprot.org/uniprotkb/P13011" } ], "pmid": "" }, { "name": "stearoyl-CoA 9-desaturase activity", "id": "GO:0004768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004768", "evidence": [ { "database": "UniProtKB", "id": "P13011", "url": "https://www.uniprot.org/uniprotkb/P13011" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "P13011", "url": "https://www.uniprot.org/uniprotkb/P13011" } ], "pmid": "" }, { "name": "palmitoyl-CoA 9-desaturase activity", "id": "GO:0032896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032896", "evidence": [ { "database": "UniProtKB", "id": "P13011", "url": "https://www.uniprot.org/uniprotkb/P13011" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water", "id": "GO:0016717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016717", "evidence": [ { "database": "UniProtKB", "id": "P13011", "url": "https://www.uniprot.org/uniprotkb/P13011" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P13011", "url": "https://www.uniprot.org/uniprotkb/P13011" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P13011", "url": "https://www.uniprot.org/uniprotkb/P13011" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P13011", "url": "https://www.uniprot.org/uniprotkb/P13011" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P13011", "url": "https://www.uniprot.org/uniprotkb/P13011" } ], "pmid": "" } ], "biological_process": [ { "name": "unsaturated fatty acid biosynthetic process", "id": "GO:0006636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006636", "evidence": [ { "database": "UniProtKB", "id": "P13011", "url": "https://www.uniprot.org/uniprotkb/P13011" } ], "pmid": "" }, { "name": "monounsaturated fatty acid biosynthetic process", "id": "GO:1903966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903966", "evidence": [ { "database": "UniProtKB", "id": "P13011", "url": "https://www.uniprot.org/uniprotkb/P13011" } ], "pmid": "" }, { "name": "response to fatty acid", "id": "GO:0070542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070542", "evidence": [ { "database": "UniProtKB", "id": "P13011", "url": "https://www.uniprot.org/uniprotkb/P13011" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "P13011", "url": "https://www.uniprot.org/uniprotkb/P13011" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P13011-1", "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, glycolipid related.", "chr_id": "19", "chr_pos": "44283353", "evidence": [ { "id": "rs3389520755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389520755" } ] } ] }, { "uniprot_canonical_ac": "P13011-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Met143", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44286599", "evidence": [ { "id": "rs3389450618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389450618" } ] } ] }, { "uniprot_canonical_ac": "P13011-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Tyr217", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44289656", "evidence": [ { "id": "rs3389520715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389520715" } ] } ] }, { "uniprot_canonical_ac": "P13011-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Leu231", "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": "44289698", "evidence": [ { "id": "rs3389508635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389508635" } ] } ] }, { "uniprot_canonical_ac": "P13011-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Val242", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44289730", "evidence": [ { "id": "rs3554106015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3554106015" } ] } ] }, { "uniprot_canonical_ac": "P13011-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Cys246", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44289743", "evidence": [ { "id": "rs3554267168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3554267168" } ] } ] }, { "uniprot_canonical_ac": "P13011-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Gly26", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44283395", "evidence": [ { "id": "rs3389550757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389550757" } ] } ] }, { "uniprot_canonical_ac": "P13011-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Pro274", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44289827", "evidence": [ { "id": "rs3389535216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389535216" } ] } ] }, { "uniprot_canonical_ac": "P13011-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Asp276", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44289832", "evidence": [ { "id": "rs3412094140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412094140" } ] } ] }, { "uniprot_canonical_ac": "P13011-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Arg340", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "44291581", "evidence": [ { "id": "rs3409187276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409187276" } ] } ] }, { "uniprot_canonical_ac": "P13011-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Lys96", "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": "44283604", "evidence": [ { "id": "rs3389534382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389534382" } ] } ] } ], "record_id": "P13011-1" }, { "uniprot_canonical_ac": "P23979-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 489, "chemical_mass": 56225.0, "gene_names": "Htr3a;5-HT3A;5-HT3R;5-HT3;5ht3;Htr3a;Htr3", "protein_name": "5-hydroxytryptamine receptor 3A", "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: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 }, { "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": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "cleavage furrow", "id": "GO:0032154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032154", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "serotonin-activated cation-selective channel complex", "id": "GO:1904602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904602", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "transmembrane transporter complex", "id": "GO:1902495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902495", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" } ], "molecular_function": [ { "name": "serotonin-gated monoatomic cation channel activity", "id": "GO:0022850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022850", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "serotonin binding", "id": "GO:0051378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051378", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "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": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "excitatory extracellular ligand-gated monoatomic ion channel activity", "id": "GO:0005231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005231", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "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": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "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": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "serotonin receptor signaling pathway", "id": "GO:0007210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007210", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "positive regulation of ion transmembrane transporter activity", "id": "GO:0032414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032414", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" }, { "name": "serotonin-gated cation-selective signaling pathway", "id": "GO:0140227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140227", "evidence": [ { "database": "UniProtKB", "id": "P23979", "url": "https://www.uniprot.org/uniprotkb/P23979" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P23979-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Asn109", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true, "automatic_literature_mining": 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=4PIR&bu=0&command=select+.E:82;+center+selection;+zoom+selection" }, "start_pos": 109, "start_aa": "Asn", "end_pos": 109, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn109", "evidence": [ { "id": "P23979", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P23979#ptm_processing" }, { "id": "15264219", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15264219" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" }, { "id": "4PIR", "database": "PDB", "url": "https://www.rcsb.org/structure/4PIR" }, { "id": "4PIR", "database": "PDB", "url": "https://www.rcsb.org/structure/4PIR" }, { "id": "6BE1", "database": "PDB", "url": "https://www.rcsb.org/structure/6BE1" }, { "id": "6BE1", "database": "PDB", "url": "https://www.rcsb.org/structure/6BE1" }, { "id": "6HIN", "database": "PDB", "url": "https://www.rcsb.org/structure/6HIN" }, { "id": "6HIN", "database": "PDB", "url": "https://www.rcsb.org/structure/6HIN" }, { "id": "6HIO", "database": "PDB", "url": "https://www.rcsb.org/structure/6HIO" }, { "id": "6HIO", "database": "PDB", "url": "https://www.rcsb.org/structure/6HIO" }, { "id": "6HIQ", "database": "PDB", "url": "https://www.rcsb.org/structure/6HIQ" }, { "id": "6HIQ", "database": "PDB", "url": "https://www.rcsb.org/structure/6HIQ" }, { "id": "6W1J", "database": "PDB", "url": "https://www.rcsb.org/structure/6W1J" }, { "id": "6W1J", "database": "PDB", "url": "https://www.rcsb.org/structure/6W1J" }, { "id": "6Y1Z", "database": "PDB", "url": "https://www.rcsb.org/structure/6Y1Z" }, { "id": "6Y1Z", "database": "PDB", "url": "https://www.rcsb.org/structure/6Y1Z" }, { "id": "8AW2", "database": "PDB", "url": "https://www.rcsb.org/structure/8AW2" }, { "id": "8AW2", "database": "PDB", "url": "https://www.rcsb.org/structure/8AW2" }, { "id": "8CC6", "database": "PDB", "url": "https://www.rcsb.org/structure/8CC6" }, { "id": "8CC6", "database": "PDB", "url": "https://www.rcsb.org/structure/8CC6" }, { "id": "8CC7", "database": "PDB", "url": "https://www.rcsb.org/structure/8CC7" }, { "id": "8CC7", "database": "PDB", "url": "https://www.rcsb.org/structure/8CC7" }, { "id": "8FRW", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRW" }, { "id": "8FRW", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRW" }, { "id": "8FRX", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRX" }, { "id": "8FRX", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRX" }, { "id": "8FRZ", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRZ" }, { "id": "8FRZ", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRZ" }, { "id": "8FSB", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSB" }, { "id": "8FSB", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSB" }, { "id": "8FSP", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSP" }, { "id": "8FSP", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSP" }, { "id": "8FSZ", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSZ" }, { "id": "8FSZ", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSZ" }, { "id": "4PIR|E|82", "database": "", "url": "" }, { "id": "6BE1|D|82", "database": "", "url": "" }, { "id": "6BE1|A|82", "database": "", "url": "" }, { "id": "6HIN|E|82", "database": "", "url": "" }, { "id": "6HIN|D|82", "database": "", "url": "" }, { "id": "6HIN|C|82", "database": "", "url": "" }, { "id": "6HIN|B|82", "database": "", "url": "" }, { "id": "6HIN|A|82", "database": "", "url": "" }, { "id": "6HIO|E|82", "database": "", "url": "" }, { "id": "6HIO|D|82", "database": "", "url": "" }, { "id": "6HIO|C|82", "database": "", "url": "" }, { "id": "6HIO|B|82", "database": "", "url": "" }, { "id": "6HIO|A|82", "database": "", "url": "" }, { "id": "6HIQ|E|82", "database": "", "url": "" }, { "id": "6HIQ|D|82", "database": "", "url": "" }, { "id": "6HIQ|C|82", "database": "", "url": "" }, { "id": "6HIQ|B|82", "database": "", "url": "" }, { "id": "6HIQ|A|82", "database": "", "url": "" }, { "id": "6W1J|E|82", "database": "", "url": "" }, { "id": "6W1J|D|82", "database": "", "url": "" }, { "id": "6W1J|C|82", "database": "", "url": "" }, { "id": "6W1J|B|82", "database": "", "url": "" }, { "id": "6W1J|A|82", "database": "", "url": "" }, { "id": "6Y1Z|B|82", "database": "", "url": "" }, { "id": "6Y1Z|E|82", "database": "", "url": "" }, { "id": "6Y1Z|D|82", "database": "", "url": "" }, { "id": "6Y1Z|C|82", "database": "", "url": "" }, { "id": "6Y1Z|A|82", "database": "", "url": "" }, { "id": "8AW2|A|82", "database": "", "url": "" }, { "id": "8AW2|C|82", "database": "", "url": "" }, { "id": "8AW2|E|82", "database": "", "url": "" }, { "id": "8AW2|D|82", "database": "", "url": "" }, { "id": "8AW2|B|82", "database": "", "url": "" }, { "id": "8CC6|E|82", "database": "", "url": "" }, { "id": "8CC6|D|82", "database": "", "url": "" }, { "id": "8CC6|C|82", "database": "", "url": "" }, { "id": "8CC6|B|82", "database": "", "url": "" }, { "id": "8CC6|A|82", "database": "", "url": "" }, { "id": "8CC7|D|82", "database": "", "url": "" }, { "id": "8CC7|E|82", "database": "", "url": "" }, { "id": "8CC7|C|82", "database": "", "url": "" }, { "id": "8CC7|B|82", "database": "", "url": "" }, { "id": "8CC7|A|82", "database": "", "url": "" }, { "id": "8FRW|A|82", "database": "", "url": "" }, { "id": "8FRW|E|82", "database": "", "url": "" }, { "id": "8FRW|D|82", "database": "", "url": "" }, { "id": "8FRW|C|82", "database": "", "url": "" }, { "id": "8FRW|B|82", "database": "", "url": "" }, { "id": "8FRX|E|82", "database": "", "url": "" }, { "id": "8FRX|D|82", "database": "", "url": "" }, { "id": "8FRX|C|82", "database": "", "url": "" }, { "id": "8FRX|B|82", "database": "", "url": "" }, { "id": "8FRX|A|82", "database": "", "url": "" }, { "id": "8FRZ|E|82", "database": "", "url": "" }, { "id": "8FRZ|D|82", "database": "", "url": "" }, { "id": "8FRZ|C|82", "database": "", "url": "" }, { "id": "8FRZ|B|82", "database": "", "url": "" }, { "id": "8FRZ|A|82", "database": "", "url": "" }, { "id": "8FSB|C|82", "database": "", "url": "" }, { "id": "8FSB|E|82", "database": "", "url": "" }, { "id": "8FSB|D|82", "database": "", "url": "" }, { "id": "8FSB|B|82", "database": "", "url": "" }, { "id": "8FSB|A|82", "database": "", "url": "" }, { "id": "8FSP|E|82", "database": "", "url": "" }, { "id": "8FSP|D|82", "database": "", "url": "" }, { "id": "8FSP|C|82", "database": "", "url": "" }, { "id": "8FSP|B|82", "database": "", "url": "" }, { "id": "8FSP|A|82", "database": "", "url": "" }, { "id": "8FSZ|A|82", "database": "", "url": "" }, { "id": "8FSZ|E|82", "database": "", "url": "" }, { "id": "8FSZ|D|82", "database": "", "url": "" }, { "id": "8FSZ|C|82", "database": "", "url": "" }, { "id": "8FSZ|B|82", "database": "", "url": "" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ] }, { "uniprot_canonical_ac": "P23979-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Asn175", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "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=6BE1&bu=0&command=select+.C:148;+center+selection;+zoom+selection" }, "start_pos": 175, "start_aa": "Asn", "end_pos": 175, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn175", "evidence": [ { "id": "P23979", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P23979#ptm_processing" }, { "id": "6BE1", "database": "PDB", "url": "https://www.rcsb.org/structure/6BE1" }, { "id": "6BE1", "database": "PDB", "url": "https://www.rcsb.org/structure/6BE1" }, { "id": "6W1J", "database": "PDB", "url": "https://www.rcsb.org/structure/6W1J" }, { "id": "6W1J", "database": "PDB", "url": "https://www.rcsb.org/structure/6W1J" }, { "id": "6W1M", "database": "PDB", "url": "https://www.rcsb.org/structure/6W1M" }, { "id": "6W1M", "database": "PDB", "url": "https://www.rcsb.org/structure/6W1M" }, { "id": "6W1Y", "database": "PDB", "url": "https://www.rcsb.org/structure/6W1Y" }, { "id": "6W1Y", "database": "PDB", "url": "https://www.rcsb.org/structure/6W1Y" }, { "id": "8FRW", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRW" }, { "id": "8FRW", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRW" }, { "id": "8FRX", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRX" }, { "id": "8FRX", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRX" }, { "id": "8FRZ", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRZ" }, { "id": "8FRZ", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRZ" }, { "id": "8FSB", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSB" }, { "id": "8FSB", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSB" }, { "id": "8FSP", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSP" }, { "id": "8FSP", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSP" }, { "id": "8FSZ", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSZ" }, { "id": "8FSZ", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSZ" }, { "id": "6BE1|C|148", "database": "", "url": "" }, { "id": "6W1J|E|148", "database": "", "url": "" }, { "id": "6W1J|D|148", "database": "", "url": "" }, { "id": "6W1J|C|148", "database": "", "url": "" }, { "id": "6W1J|B|148", "database": "", "url": "" }, { "id": "6W1J|A|148", "database": "", "url": "" }, { "id": "6W1M|E|148", "database": "", "url": "" }, { "id": "6W1M|D|148", "database": "", "url": "" }, { "id": "6W1M|C|148", "database": "", "url": "" }, { "id": "6W1M|B|148", "database": "", "url": "" }, { "id": "6W1M|A|148", "database": "", "url": "" }, { "id": "6W1Y|E|148", "database": "", "url": "" }, { "id": "6W1Y|D|148", "database": "", "url": "" }, { "id": "6W1Y|C|148", "database": "", "url": "" }, { "id": "6W1Y|B|148", "database": "", "url": "" }, { "id": "6W1Y|A|148", "database": "", "url": "" }, { "id": "8FRW|A|148", "database": "", "url": "" }, { "id": "8FRW|E|148", "database": "", "url": "" }, { "id": "8FRW|D|148", "database": "", "url": "" }, { "id": "8FRW|C|148", "database": "", "url": "" }, { "id": "8FRW|B|148", "database": "", "url": "" }, { "id": "8FRX|E|148", "database": "", "url": "" }, { "id": "8FRX|D|148", "database": "", "url": "" }, { "id": "8FRX|C|148", "database": "", "url": "" }, { "id": "8FRX|B|148", "database": "", "url": "" }, { "id": "8FRX|A|148", "database": "", "url": "" }, { "id": "8FRZ|E|148", "database": "", "url": "" }, { "id": "8FRZ|D|148", "database": "", "url": "" }, { "id": "8FRZ|C|148", "database": "", "url": "" }, { "id": "8FRZ|B|148", "database": "", "url": "" }, { "id": "8FRZ|A|148", "database": "", "url": "" }, { "id": "8FSB|C|148", "database": "", "url": "" }, { "id": "8FSB|E|148", "database": "", "url": "" }, { "id": "8FSB|D|148", "database": "", "url": "" }, { "id": "8FSB|B|148", "database": "", "url": "" }, { "id": "8FSB|A|148", "database": "", "url": "" }, { "id": "8FSP|E|148", "database": "", "url": "" }, { "id": "8FSP|D|148", "database": "", "url": "" }, { "id": "8FSP|C|148", "database": "", "url": "" }, { "id": "8FSP|B|148", "database": "", "url": "" }, { "id": "8FSP|A|148", "database": "", "url": "" }, { "id": "8FSZ|A|148", "database": "", "url": "" }, { "id": "8FSZ|E|148", "database": "", "url": "" }, { "id": "8FSZ|D|148", "database": "", "url": "" }, { "id": "8FSZ|C|148", "database": "", "url": "" }, { "id": "8FSZ|B|148", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P23979-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Asn191", "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=6W1J&bu=0&command=select+.E:164;+center+selection;+zoom+selection" }, "start_pos": 191, "start_aa": "Asn", "end_pos": 191, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn191", "evidence": [ { "id": "P23979", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P23979#ptm_processing" }, { "id": "6W1J", "database": "PDB", "url": "https://www.rcsb.org/structure/6W1J" }, { "id": "6W1J", "database": "PDB", "url": "https://www.rcsb.org/structure/6W1J" }, { "id": "8FRW", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRW" }, { "id": "8FRW", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRW" }, { "id": "8FRX", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRX" }, { "id": "8FRX", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRX" }, { "id": "8FRZ", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRZ" }, { "id": "8FRZ", "database": "PDB", "url": "https://www.rcsb.org/structure/8FRZ" }, { "id": "8FSB", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSB" }, { "id": "8FSB", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSB" }, { "id": "8FSP", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSP" }, { "id": "8FSP", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSP" }, { "id": "8FSZ", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSZ" }, { "id": "8FSZ", "database": "PDB", "url": "https://www.rcsb.org/structure/8FSZ" }, { "id": "6W1J|E|164", "database": "", "url": "" }, { "id": "6W1J|D|164", "database": "", "url": "" }, { "id": "6W1J|C|164", "database": "", "url": "" }, { "id": "6W1J|B|164", "database": "", "url": "" }, { "id": "6W1J|A|164", "database": "", "url": "" }, { "id": "8FRW|A|164", "database": "", "url": "" }, { "id": "8FRW|E|164", "database": "", "url": "" }, { "id": "8FRW|D|164", "database": "", "url": "" }, { "id": "8FRW|C|164", "database": "", "url": "" }, { "id": "8FRW|B|164", "database": "", "url": "" }, { "id": "8FRX|E|164", "database": "", "url": "" }, { "id": "8FRX|D|164", "database": "", "url": "" }, { "id": "8FRX|C|164", "database": "", "url": "" }, { "id": "8FRX|B|164", "database": "", "url": "" }, { "id": "8FRX|A|164", "database": "", "url": "" }, { "id": "8FRZ|E|164", "database": "", "url": "" }, { "id": "8FRZ|D|164", "database": "", "url": "" }, { "id": "8FRZ|C|164", "database": "", "url": "" }, { "id": "8FRZ|B|164", "database": "", "url": "" }, { "id": "8FRZ|A|164", "database": "", "url": "" }, { "id": "8FSB|C|164", "database": "", "url": "" }, { "id": "8FSB|E|164", "database": "", "url": "" }, { "id": "8FSB|D|164", "database": "", "url": "" }, { "id": "8FSB|B|164", "database": "", "url": "" }, { "id": "8FSB|A|164", "database": "", "url": "" }, { "id": "8FSP|E|164", "database": "", "url": "" }, { "id": "8FSP|D|164", "database": "", "url": "" }, { "id": "8FSP|C|164", "database": "", "url": "" }, { "id": "8FSP|B|164", "database": "", "url": "" }, { "id": "8FSP|A|164", "database": "", "url": "" }, { "id": "8FSZ|A|164", "database": "", "url": "" }, { "id": "8FSZ|E|164", "database": "", "url": "" }, { "id": "8FSZ|D|164", "database": "", "url": "" }, { "id": "8FSZ|C|164", "database": "", "url": "" }, { "id": "8FSZ|B|164", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P23979-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Pro170", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFP->NFT).", "chr_id": "9", "chr_pos": "48815928", "evidence": [ { "id": "rs3400137931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400137931" } ] } ] } ], "record_id": "P23979-1" }, { "uniprot_canonical_ac": "P26149-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 373, "chemical_mass": 41923.0, "gene_names": "Hsd3b2;3-beta-HSD II;Hsd3b2", "protein_name": "3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 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: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: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: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 } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" } ], "molecular_function": [ { "name": "3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity", "id": "GO:0003854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003854", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "steroid Delta-isomerase activity", "id": "GO:0004769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004769", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "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": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" } ], "biological_process": [ { "name": "C21-steroid hormone biosynthetic process", "id": "GO:0006700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006700", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "androgen biosynthetic process", "id": "GO:0006702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006702", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "C21-steroid hormone metabolic process", "id": "GO:0008207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008207", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" }, { "name": "negative regulation of iron ion transport", "id": "GO:0034757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034757", "evidence": [ { "database": "UniProtKB", "id": "P26149", "url": "https://www.uniprot.org/uniprotkb/P26149" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P26149-1" }, { "uniprot_canonical_ac": "P28334-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 386, "chemical_mass": 43079.0, "gene_names": "Htr1b;5-HT-1B;5ht1b;Htr1b", "protein_name": "5-hydroxytryptamine receptor 1B", "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: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:10939", "name": "antisocial personality disorder", "description": "A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood.", "url": "https://disease-ontology.org/term/DOID:10939", "evidence": [ { "id": "10939", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10939" } ], "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:12995", "name": "conduct disorder", "description": "A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.", "url": "https://disease-ontology.org/term/DOID:12995", "evidence": [ { "id": "12995", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12995" } ], "weight": 0.0 }, { "disease_id": "DOID:14320", "name": "generalized anxiety disorder", "description": "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation.", "url": "https://disease-ontology.org/term/DOID:14320", "evidence": [ { "id": "14320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14320" } ], "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: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: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: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: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": "calyx of Held", "id": "GO:0044305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044305", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "serotonergic synapse", "id": "GO:0099154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099154", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "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": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" } ], "biological_process": [ { "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": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "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": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "regulation of dopamine secretion", "id": "GO:0014059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014059", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission, GABAergic", "id": "GO:0032229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032229", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "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": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "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": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "feeding behavior", "id": "GO:0007631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007631", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "negative regulation of serotonin secretion", "id": "GO:0014063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014063", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "vasoconstriction", "id": "GO:0042310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042310", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "drinking behavior", "id": "GO:0042756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042756", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "bone remodeling", "id": "GO:0046849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046849", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "regulation of behavior", "id": "GO:0050795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050795", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "cellular response to alkaloid", "id": "GO:0071312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071312", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "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": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "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": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "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": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle exocytosis", "id": "GO:2000300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000300", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "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": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "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": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "neurotransmitter receptor activity", "id": "GO:0030594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030594", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "serotonin binding", "id": "GO:0051378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051378", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "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": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "heterocyclic compound binding", "id": "GO:1901363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901363", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "Gi/o-coupled serotonin receptor activity", "id": "GO:0001586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001586", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" }, { "name": "serotonin receptor activity", "id": "GO:0099589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099589", "evidence": [ { "database": "UniProtKB", "id": "P28334", "url": "https://www.uniprot.org/uniprotkb/P28334" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P28334-1", "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": "P28334", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P28334#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P28334-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Asn28", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 28, "start_aa": "Asn", "end_pos": 28, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn28", "evidence": [ { "id": "P28334", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P28334#ptm_processing" } ] } ] } ], "record_id": "P28334-1" }, { "uniprot_canonical_ac": "P30966-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P30966", "url": "https://www.uniprot.org/uniprotkb/P30966" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 357, "chemical_mass": 40736.0, "gene_names": "Htr5a;5ht5a;Htr5a;Htr5", "protein_name": "5-hydroxytryptamine receptor 5A", "disease": [ { "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": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P30966", "url": "https://www.uniprot.org/uniprotkb/P30966" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P30966", "url": "https://www.uniprot.org/uniprotkb/P30966" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P30966", "url": "https://www.uniprot.org/uniprotkb/P30966" } ], "pmid": "" }, { "name": "postsynaptic specialization membrane", "id": "GO:0099634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099634", "evidence": [ { "database": "UniProtKB", "id": "P30966", "url": "https://www.uniprot.org/uniprotkb/P30966" } ], "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": "P30966", "url": "https://www.uniprot.org/uniprotkb/P30966" } ], "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": "P30966", "url": "https://www.uniprot.org/uniprotkb/P30966" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P30966", "url": "https://www.uniprot.org/uniprotkb/P30966" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "P30966", "url": "https://www.uniprot.org/uniprotkb/P30966" } ], "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": "P30966", "url": "https://www.uniprot.org/uniprotkb/P30966" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P30966", "url": "https://www.uniprot.org/uniprotkb/P30966" } ], "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": "P30966", "url": "https://www.uniprot.org/uniprotkb/P30966" } ], "pmid": "" }, { "name": "neurotransmitter receptor activity", "id": "GO:0030594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030594", "evidence": [ { "database": "UniProtKB", "id": "P30966", "url": "https://www.uniprot.org/uniprotkb/P30966" } ], "pmid": "" }, { "name": "Gi/o-coupled serotonin receptor activity", "id": "GO:0001586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001586", "evidence": [ { "database": "UniProtKB", "id": "P30966", "url": "https://www.uniprot.org/uniprotkb/P30966" } ], "pmid": "" }, { "name": "serotonin receptor activity", "id": "GO:0099589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099589", "evidence": [ { "database": "UniProtKB", "id": "P30966", "url": "https://www.uniprot.org/uniprotkb/P30966" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P30966-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Asn21", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 21, "start_aa": "Asn", "end_pos": 21, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn21", "evidence": [ { "id": "P30966", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P30966#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P30966-1", "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": "P30966", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P30966#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P30966-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Ser23", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NRS->NRN).", "chr_id": "5", "chr_pos": "28047514", "evidence": [ { "id": "rs3388750092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388750092" } ] } ] } ], "record_id": "P30966-1" }, { "uniprot_canonical_ac": "P32211-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 479, "chemical_mass": 52973.0, "gene_names": "Chrm4;AChR M4;Chrm-4;Chrm4;M4;mm4 mAChR", "protein_name": "Muscarinic acetylcholine receptor M4", "disease": [ { "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": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "pmid": "" }, { "name": "asymmetric synapse", "id": "GO:0032279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032279", "evidence": [ { "database": "UniProtKB", "id": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "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": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "pmid": "" }, { "name": "regulation of locomotion", "id": "GO:0040012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040012", "evidence": [ { "database": "UniProtKB", "id": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "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": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "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": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P32211-1", "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": "P32211", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32211#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P32211-1", "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": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P32211", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P32211" } ] } ] }, { "uniprot_canonical_ac": "P32211-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Thr315", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 315, "start_aa": "Thr", "end_pos": 315, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr315", "evidence": [ { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" }, { "id": "P32211", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P32211" } ] } ] }, { "uniprot_canonical_ac": "P32211-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Asn3", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G75418YA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MANFTPVNGSSANQSVR", "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": "P32211-1", "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": "P32211", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P32211#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P32211-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Thr459", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ] } ] }, { "uniprot_canonical_ac": "P32211-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Thr463", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ] } ] }, { "uniprot_canonical_ac": "P32211-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Thr477", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P32211", "url": "https://www.uniprot.org/uniprotkb/P32211" } ] } ] } ], "record_id": "P32211-1" }, { "uniprot_canonical_ac": "P35374-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 363, "chemical_mass": 41374.0, "gene_names": "Agtr2;Agtr2", "protein_name": "Type-2 angiotensin II receptor", "disease": [ { "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: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: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:11049", "name": "meconium aspiration syndrome", "description": "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.", "url": "https://disease-ontology.org/term/DOID:11049", "evidence": [ { "id": "11049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11049" } ], "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: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: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: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: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: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: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: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: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: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: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: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:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.", "url": "https://disease-ontology.org/term/DOID:9620", "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ], "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": "kidney morphogenesis", "id": "GO:0060993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060993", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "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": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "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": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "exploration behavior", "id": "GO:0035640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035640", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "negative regulation of norepinephrine secretion", "id": "GO:0010700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010700", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "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": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "regulation of systemic arterial blood pressure by circulatory renin-angiotensin", "id": "GO:0001991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001991", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "renin-angiotensin regulation of aldosterone production", "id": "GO:0002018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002018", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "angiotensin-mediated vasodilation involved in regulation of systemic arterial blood pressure", "id": "GO:0002033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002033", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "brain renin-angiotensin system", "id": "GO:0002035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002035", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "intracellular sodium ion homeostasis", "id": "GO:0006883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006883", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger", "id": "GO:0007199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007199", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "negative regulation of heart rate", "id": "GO:0010459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010459", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "cerebellar cortex development", "id": "GO:0021695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021695", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "negative regulation of icosanoid secretion", "id": "GO:0032304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032304", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "regulation of metanephros size", "id": "GO:0035566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035566", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "angiotensin-activated signaling pathway", "id": "GO:0038166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038166", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "dopamine biosynthetic process", "id": "GO:0042416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042416", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "negative regulation of neurotrophin TRK receptor signaling pathway", "id": "GO:0051387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051387", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "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": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "positive regulation of metanephric glomerulus development", "id": "GO:0072300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072300", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "positive regulation of branching involved in ureteric bud morphogenesis", "id": "GO:0090190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090190", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "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": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "nitric oxide-cGMP-mediated signaling", "id": "GO:0038060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038060", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "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": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" } ], "molecular_function": [ { "name": "angiotensin type II receptor activity", "id": "GO:0004945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004945", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P35374-1", "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": "P35374", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35374#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P35374-1", "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": "P35374", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35374#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P35374-1", "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": "P35374", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35374#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P35374-1", "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": "P35374", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35374#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P35374-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Asn4", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 4, "start_aa": "Asn", "end_pos": 4, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn4", "evidence": [ { "id": "P35374", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35374#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P35374-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Ser354", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35374", "url": "https://www.uniprot.org/uniprotkb/P35374" } ] } ] } ], "record_id": "P35374-1" }, { "uniprot_canonical_ac": "P61222-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 599, "chemical_mass": 67314.0, "gene_names": "Abce1;Abce1;Oabp;RLI;RNS41;RNS4I;Rli;Rnaseli", "protein_name": "ATP-binding cassette sub-family E member 1", "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 }, { "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: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: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": "rescue of stalled ribosome", "id": "GO:0072344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072344", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" }, { "name": "ribosome disassembly", "id": "GO:0032790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032790", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" }, { "name": "translational termination", "id": "GO:0006415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006415", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" }, { "name": "translational initiation", "id": "GO:0006413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006413", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" }, { "name": "protein ufmylation", "id": "GO:0071569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071569", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" }, { "name": "ribosome-associated ubiquitin-dependent protein catabolic process", "id": "GO:1990116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990116", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" }, { "name": "CAT tailing", "id": "GO:0140708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140708", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "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": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" }, { "name": "ribosomal small subunit binding", "id": "GO:0043024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043024", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" }, { "name": "endoribonuclease inhibitor activity", "id": "GO:0060698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060698", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" }, { "name": "ribonucleoside triphosphate phosphatase activity", "id": "GO:0017111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017111", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" }, { "name": "CTPase activity", "id": "GO:0043273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043273", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P61222-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Asn381", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G25598BX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KMGEFELAIVAGEFTDSEIMVMLGENGTGK", "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" } ] } ] }, { "uniprot_canonical_ac": "P61222-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Ser417", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ] } ] }, { "uniprot_canonical_ac": "P61222-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Thr550", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P61222", "url": "https://www.uniprot.org/uniprotkb/P61222" } ] } ] } ], "record_id": "P61222-1" }, { "uniprot_canonical_ac": "P70170-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1546, "chemical_mass": 174239.0, "gene_names": "Abcc9;Abcc9;SUR2A;SUR2B;Sur2", "protein_name": "ATP-binding cassette sub-family C member 9", "disease": [ { "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:0060569", "name": "hypertrichotic osteochondrodysplasia Cantu type", "description": "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly.", "url": "https://disease-ontology.org/term/DOID:0060569", "evidence": [ { "id": "0060569", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060569" } ], "weight": 0.0 }, { "disease_id": "DOID:0070600", "name": "intellectual disability and myopathy syndrome", "description": "A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 gene on chromosome 12p12.", "url": "https://disease-ontology.org/term/DOID:0070600", "evidence": [ { "id": "0070600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070600" } ], "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:0110451", "name": "dilated cardiomyopathy 1O", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1.", "url": "https://disease-ontology.org/term/DOID:0110451", "evidence": [ { "id": "0110451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110451" } ], "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: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": "regulation of potassium ion transmembrane transport", "id": "GO:1901379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901379", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "circulatory system development", "id": "GO:0072359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072359", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "reactive oxygen species biosynthetic process", "id": "GO:1903409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903409", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "cardiac muscle cell contraction", "id": "GO:0086003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086003", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "response to hydrogen sulfide", "id": "GO:1904880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904880", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "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": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "action potential", "id": "GO:0001508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001508", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "blood circulation", "id": "GO:0008015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008015", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "blood vessel diameter maintenance", "id": "GO:0097746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097746", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "fatty acid oxidation", "id": "GO:0019395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019395", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "monoatomic cation transmembrane transport", "id": "GO:0098655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098655", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "response to stress", "id": "GO:0006950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006950", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "cardiac conduction", "id": "GO:0061337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061337", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "fibroblast proliferation", "id": "GO:0048144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048144", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "response to ATP", "id": "GO:0033198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033198", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "response to potassium ion", "id": "GO:0035864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035864", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "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": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "oxygen metabolic process", "id": "GO:0072592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072592", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "cellular response to potassium ion", "id": "GO:0035865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035865", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "cellular response to ATP", "id": "GO:0071318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071318", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "response to peptide", "id": "GO:1901652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901652", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "cellular respiration", "id": "GO:0045333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045333", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "response to oxygen levels", "id": "GO:0070482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070482", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "cellular response to chemical stress", "id": "GO:0062197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062197", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "response to decreased oxygen levels", "id": "GO:0036293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036293", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "vascular process in circulatory system", "id": "GO:0003018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003018", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "potassium channel regulator activity", "id": "GO:0015459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015459", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "syntaxin binding", "id": "GO:0019905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019905", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "potassium channel activity", "id": "GO:0005267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005267", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "sulfonylurea receptor activity", "id": "GO:0008281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008281", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "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": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "potassium channel activator activity", "id": "GO:0099104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099104", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "heterocyclic compound binding", "id": "GO:1901363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901363", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "inward rectifying potassium channel", "id": "GO:0008282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008282", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P70170", "url": "https://www.uniprot.org/uniprotkb/P70170" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70170-1", "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": "P70170", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P70170#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P70170-1", "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": "P70170", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P70170#ptm_processing" } ] } ] } ], "record_id": "P70170-1" }, { "uniprot_canonical_ac": "Q32MW3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q32MW3", "url": "https://www.uniprot.org/uniprotkb/Q32MW3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 439, "chemical_mass": 50552.0, "gene_names": "Acot10;Acate3;Acot10;MT-ACT48;p48", "protein_name": "Acyl-coenzyme A thioesterase 10, mitochondrial", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q32MW3", "url": "https://www.uniprot.org/uniprotkb/Q32MW3" } ], "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": "Q32MW3", "url": "https://www.uniprot.org/uniprotkb/Q32MW3" } ], "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": "Q32MW3", "url": "https://www.uniprot.org/uniprotkb/Q32MW3" } ], "pmid": "" }, { "name": "carboxylic ester hydrolase activity", "id": "GO:0052689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052689", "evidence": [ { "database": "UniProtKB", "id": "Q32MW3", "url": "https://www.uniprot.org/uniprotkb/Q32MW3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q32MW3-1" }, { "uniprot_canonical_ac": "Q32Q92-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q32Q92", "url": "https://www.uniprot.org/uniprotkb/Q32Q92" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 419, "chemical_mass": 46769.0, "gene_names": "Acot6;4632408A20Rik;A330054B07;Acot6", "protein_name": "Acyl-coenzyme A thioesterase 6", "disease": [], "cellular_component": [ { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q32Q92", "url": "https://www.uniprot.org/uniprotkb/Q32Q92" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q32Q92", "url": "https://www.uniprot.org/uniprotkb/Q32Q92" } ], "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": "Q32Q92", "url": "https://www.uniprot.org/uniprotkb/Q32Q92" } ], "pmid": "" }, { "name": "acyl-CoA metabolic process", "id": "GO:0006637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006637", "evidence": [ { "database": "UniProtKB", "id": "Q32Q92", "url": "https://www.uniprot.org/uniprotkb/Q32Q92" } ], "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": "Q32Q92", "url": "https://www.uniprot.org/uniprotkb/Q32Q92" } ], "pmid": "" }, { "name": "carboxylic ester hydrolase activity", "id": "GO:0052689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052689", "evidence": [ { "database": "UniProtKB", "id": "Q32Q92", "url": "https://www.uniprot.org/uniprotkb/Q32Q92" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q32Q92-1" }, { "uniprot_canonical_ac": "Q3THG9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3THG9", "url": "https://www.uniprot.org/uniprotkb/Q3THG9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 412, "chemical_mass": 44971.0, "gene_names": "Aarsd1;1110069E20Rik;2310044P18Rik;Aarsd1;AlaXp-II;AlaX;Alax", "protein_name": "Alanyl-tRNA editing protein Aarsd1", "disease": [], "molecular_function": [ { "name": "aminoacyl-tRNA deacylase activity", "id": "GO:0002161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002161", "evidence": [ { "database": "UniProtKB", "id": "Q3THG9", "url": "https://www.uniprot.org/uniprotkb/Q3THG9" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q3THG9", "url": "https://www.uniprot.org/uniprotkb/Q3THG9" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q3THG9", "url": "https://www.uniprot.org/uniprotkb/Q3THG9" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q3THG9", "url": "https://www.uniprot.org/uniprotkb/Q3THG9" } ], "pmid": "" }, { "name": "Ser-tRNA(Ala) deacylase activity", "id": "GO:0002196", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002196", "evidence": [ { "database": "UniProtKB", "id": "Q3THG9", "url": "https://www.uniprot.org/uniprotkb/Q3THG9" } ], "pmid": "" }, { "name": "alanine-tRNA ligase activity", "id": "GO:0004813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004813", "evidence": [ { "database": "UniProtKB", "id": "Q3THG9", "url": "https://www.uniprot.org/uniprotkb/Q3THG9" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3THG9", "url": "https://www.uniprot.org/uniprotkb/Q3THG9" } ], "pmid": "" } ], "biological_process": [ { "name": "alanyl-tRNA aminoacylation", "id": "GO:0006419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006419", "evidence": [ { "database": "UniProtKB", "id": "Q3THG9", "url": "https://www.uniprot.org/uniprotkb/Q3THG9" } ], "pmid": "" }, { "name": "regulation of translational fidelity", "id": "GO:0006450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006450", "evidence": [ { "database": "UniProtKB", "id": "Q3THG9", "url": "https://www.uniprot.org/uniprotkb/Q3THG9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3THG9-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Asn280", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G89045VA", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KLQNATK", "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" } ] } ] }, { "uniprot_canonical_ac": "Q3THG9-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Ser174", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3THG9", "url": "https://www.uniprot.org/uniprotkb/Q3THG9" } ] } ] } ], "record_id": "Q3THG9-1" }, { "uniprot_canonical_ac": "Q5SSE9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5SSE9", "url": "https://www.uniprot.org/uniprotkb/Q5SSE9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 5034, "chemical_mass": 568897.0, "gene_names": "Abca13;9830132L24;A930002G16Rik;Abca13", "protein_name": "ATP-binding cassette sub-family A member 13", "disease": [ { "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 } ], "biological_process": [ { "name": "positive regulation of synaptic vesicle endocytosis", "id": "GO:1900244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900244", "evidence": [ { "database": "UniProtKB", "id": "Q5SSE9", "url": "https://www.uniprot.org/uniprotkb/Q5SSE9" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "Q5SSE9", "url": "https://www.uniprot.org/uniprotkb/Q5SSE9" } ], "pmid": "" }, { "name": "ceramide transport", "id": "GO:0035627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035627", "evidence": [ { "database": "UniProtKB", "id": "Q5SSE9", "url": "https://www.uniprot.org/uniprotkb/Q5SSE9" } ], "pmid": "" }, { "name": "positive regulation of cholesterol transport", "id": "GO:0032376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032376", "evidence": [ { "database": "UniProtKB", "id": "Q5SSE9", "url": "https://www.uniprot.org/uniprotkb/Q5SSE9" } ], "pmid": "" } ], "cellular_component": [ { "name": "intracellular vesicle", "id": "GO:0097708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097708", "evidence": [ { "database": "UniProtKB", "id": "Q5SSE9", "url": "https://www.uniprot.org/uniprotkb/Q5SSE9" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q5SSE9", "url": "https://www.uniprot.org/uniprotkb/Q5SSE9" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "Q5SSE9", "url": "https://www.uniprot.org/uniprotkb/Q5SSE9" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q5SSE9", "url": "https://www.uniprot.org/uniprotkb/Q5SSE9" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q5SSE9", "url": "https://www.uniprot.org/uniprotkb/Q5SSE9" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q5SSE9", "url": "https://www.uniprot.org/uniprotkb/Q5SSE9" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q5SSE9", "url": "https://www.uniprot.org/uniprotkb/Q5SSE9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5SSE9-1", "start_pos": "3303", "end_pos": "3303", "site_lbl": "Asn3303", "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": "ANYTFYFVDK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3303, "start_aa": "Asn", "end_pos": 3303, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3303", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q5SSE9-1", "start_pos": "3394", "end_pos": "3394", "site_lbl": "Asn3394", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G00912UN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FLGGMLANLSSCVVLDR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 3394, "start_aa": "Asn", "end_pos": 3394, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn3394", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q5SSE9-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Asn84", "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": "NISFESSMDHHFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 84, "start_aa": "Asn", "end_pos": 84, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn84", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q5SSE9-1", "start_pos": "1487", "end_pos": "1487", "site_lbl": "Pro1487", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "11", "chr_pos": "9242597", "evidence": [ { "id": "rs241304433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241304433" } ] } ] }, { "uniprot_canonical_ac": "Q5SSE9-1", "start_pos": "1573", "end_pos": "1573", "site_lbl": "Phe1573", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NNF->NNS).", "chr_id": "11", "chr_pos": "9242856", "evidence": [ { "id": "rs216668074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216668074" } ] } ] }, { "uniprot_canonical_ac": "Q5SSE9-1", "start_pos": "1787", "end_pos": "1787", "site_lbl": "Lys1787", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KIT->NIT).", "chr_id": "11", "chr_pos": "9243499", "evidence": [ { "id": "rs48141168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48141168" } ] } ] }, { "uniprot_canonical_ac": "Q5SSE9-1", "start_pos": "2270", "end_pos": "2270", "site_lbl": "Asp2270", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "11", "chr_pos": "9244946", "evidence": [ { "id": "rs213107361", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213107361" } ] } ] }, { "uniprot_canonical_ac": "Q5SSE9-1", "start_pos": "2916", "end_pos": "2916", "site_lbl": "Pro2916", "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": "9259021", "evidence": [ { "id": "rs3389143656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389143656" } ] } ] }, { "uniprot_canonical_ac": "Q5SSE9-1", "start_pos": "3766", "end_pos": "3766", "site_lbl": "Ser3766", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SIC->NIC).", "chr_id": "11", "chr_pos": "9380603", "evidence": [ { "id": "rs1134361234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134361234" } ] } ] }, { "uniprot_canonical_ac": "Q5SSE9-1", "start_pos": "968", "end_pos": "968", "site_lbl": "Tyr968", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YSS->NSS).", "chr_id": "11", "chr_pos": "9241040", "evidence": [ { "id": "rs3389131609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389131609" } ] } ] }, { "uniprot_canonical_ac": "Q5SSE9-1", "start_pos": "3577", "end_pos": "3577", "site_lbl": "His3577", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Does not affect protein expression. Decreases intracellular cholesterol accumulation in the vesicle.", "evidence": [ { "database": "UniProtKB", "id": "Q5SSE9", "url": "https://www.uniprot.org/uniprotkb/Q5SSE9" }, { "database": "PubMed", "id": "33478937", "url": "https://glygen.org/publication/PubMed/33478937" } ] } ] }, { "uniprot_canonical_ac": "Q5SSE9-1", "start_pos": "3849", "end_pos": "3849", "site_lbl": "Lys3849", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Does not affect intracellular vesicle localization. Affects cholesterol internalization.", "evidence": [ { "database": "UniProtKB", "id": "Q5SSE9", "url": "https://www.uniprot.org/uniprotkb/Q5SSE9" }, { "database": "PubMed", "id": "33478937", "url": "https://glygen.org/publication/PubMed/33478937" } ] } ] }, { "uniprot_canonical_ac": "Q5SSE9-1", "start_pos": "3999", "end_pos": "3999", "site_lbl": "Thr3999", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Does not affect protein expression. Affects intracellular vesicles localization. Impairs intracellular cholesterol accumulation in the vesicle.", "evidence": [ { "database": "UniProtKB", "id": "Q5SSE9", "url": "https://www.uniprot.org/uniprotkb/Q5SSE9" }, { "database": "PubMed", "id": "33478937", "url": "https://glygen.org/publication/PubMed/33478937" } ] } ] }, { "uniprot_canonical_ac": "Q5SSE9-1", "start_pos": "4735", "end_pos": "4735", "site_lbl": "Lys4735", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Does not affect intracellular vesicle localization. Affects cholesterol internalization.", "evidence": [ { "database": "UniProtKB", "id": "Q5SSE9", "url": "https://www.uniprot.org/uniprotkb/Q5SSE9" }, { "database": "PubMed", "id": "33478937", "url": "https://glygen.org/publication/PubMed/33478937" } ] } ] }, { "uniprot_canonical_ac": "Q5SSE9-1", "start_pos": "4818", "end_pos": "4818", "site_lbl": "Arg4818", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Does not affect protein expression. Decreases intracellular cholesterol accumulation in the vesicle.", "evidence": [ { "database": "UniProtKB", "id": "Q5SSE9", "url": "https://www.uniprot.org/uniprotkb/Q5SSE9" }, { "database": "PubMed", "id": "33478937", "url": "https://glygen.org/publication/PubMed/33478937" } ] } ] } ], "record_id": "Q5SSE9-1" }, { "uniprot_canonical_ac": "Q60614-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 332, "chemical_mass": 36120.0, "gene_names": "Adora2b;A2BAR;A2BR;A2b;AA2BR;ARA2B;Adora2b", "protein_name": "Adenosine receptor A2b", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of norepinephrine secretion", "id": "GO:0010701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010701", "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "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": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "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": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "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": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "pmid": "" }, { "name": "positive regulation of chronic inflammatory response to non-antigenic stimulus", "id": "GO:0002882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002882", "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "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": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "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": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "pmid": "" }, { "name": "regulation of glucose metabolic process", "id": "GO:0010906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010906", "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "pmid": "" }, { "name": "positive regulation of guanylate cyclase activity", "id": "GO:0031284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031284", "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "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": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "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": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "pmid": "" }, { "name": "relaxation of vascular associated smooth muscle", "id": "GO:0060087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060087", "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "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": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "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": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "pmid": "" }, { "name": "positive regulation of catecholamine secretion", "id": "GO:0033605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033605", "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "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": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "pmid": "" }, { "name": "response to angiotensin", "id": "GO:1990776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990776", "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "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": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "pmid": "" }, { "name": "positive regulation of steroid biosynthetic process", "id": "GO:0010893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010893", "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "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": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "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": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "pmid": "" }, { "name": "G protein-coupled adenosine receptor activity", "id": "GO:0001609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001609", "evidence": [ { "database": "UniProtKB", "id": "Q60614", "url": "https://www.uniprot.org/uniprotkb/Q60614" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60614-1", "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": "Q60614", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60614#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60614-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Asn163", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q60614", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60614#ptm_processing" } ] } ] } ], "record_id": "Q60614-1" }, { "uniprot_canonical_ac": "Q60813-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60813", "url": "https://www.uniprot.org/uniprotkb/Q60813" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 791, "chemical_mass": 87490.0, "gene_names": "Adam1a;Adam1a;Adam1;Ftna", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 1a", "disease": [], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q60813", "url": "https://www.uniprot.org/uniprotkb/Q60813" } ], "pmid": "" }, { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "Q60813", "url": "https://www.uniprot.org/uniprotkb/Q60813" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q60813", "url": "https://www.uniprot.org/uniprotkb/Q60813" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60813", "url": "https://www.uniprot.org/uniprotkb/Q60813" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q60813", "url": "https://www.uniprot.org/uniprotkb/Q60813" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q60813", "url": "https://www.uniprot.org/uniprotkb/Q60813" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q60813", "url": "https://www.uniprot.org/uniprotkb/Q60813" } ], "pmid": "" }, { "name": "sperm head plasma membrane", "id": "GO:1990913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990913", "evidence": [ { "database": "UniProtKB", "id": "Q60813", "url": "https://www.uniprot.org/uniprotkb/Q60813" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q60813", "url": "https://www.uniprot.org/uniprotkb/Q60813" } ], "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": "Q60813", "url": "https://www.uniprot.org/uniprotkb/Q60813" } ], "pmid": "" }, { "name": "fusion of sperm to egg plasma membrane involved in single fertilization", "id": "GO:0007342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007342", "evidence": [ { "database": "UniProtKB", "id": "Q60813", "url": "https://www.uniprot.org/uniprotkb/Q60813" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q60813", "url": "https://www.uniprot.org/uniprotkb/Q60813" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60813-1", "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": "Q60813", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60813#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60813-1", "start_pos": "407", "end_pos": "407", "site_lbl": "Asn407", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 407, "start_aa": "Asn", "end_pos": 407, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn407", "evidence": [ { "id": "Q60813", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60813#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60813-1", "start_pos": "484", "end_pos": "484", "site_lbl": "Asn484", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 484, "start_aa": "Asn", "end_pos": 484, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn484", "evidence": [ { "id": "Q60813", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60813#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NCT->KCT).", "chr_id": "5", "chr_pos": "121657840", "evidence": [ { "id": "rs246692584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246692584" } ] } ] }, { "uniprot_canonical_ac": "Q60813-1", "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": "Q60813", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60813#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60813-1", "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": "Q60813", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60813#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60813-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Ser492", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SLC->NLC).", "chr_id": "5", "chr_pos": "121657817", "evidence": [ { "id": "rs3388777950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388777950" } ] } ] } ], "record_id": "Q60813-1" }, { "uniprot_canonical_ac": "Q61102-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 752, "chemical_mass": 82581.0, "gene_names": "Abcb7;Abc7;Abcb7", "protein_name": "Iron-sulfur clusters transporter ABCB7, mitochondrial", "disease": [ { "disease_id": "DOID:0050554", "name": "X-linked sideroblastic anemia with ataxia", "description": "A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene.", "url": "https://disease-ontology.org/term/DOID:0050554", "evidence": [ { "id": "0050554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050554" } ], "weight": 0.0 }, { "disease_id": "DOID:8955", "name": "sideroblastic anemia", "description": "A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).", "url": "https://disease-ontology.org/term/DOID:8955", "evidence": [ { "id": "8955", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8955" } ], "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": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "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": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "pmid": "" }, { "name": "iron ion transmembrane transport", "id": "GO:0034755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034755", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "pmid": "" }, { "name": "iron-sulfur cluster export from the mitochondrion", "id": "GO:0140466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140466", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "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": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "pmid": "" }, { "name": "positive regulation of iron-sulfur cluster assembly", "id": "GO:1903331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903331", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "pmid": "" }, { "name": "ABC-type iron-sulfur cluster transporter activity", "id": "GO:0140481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140481", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "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": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61102-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Ser336", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ] } ] }, { "uniprot_canonical_ac": "Q61102-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Tyr340", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ] } ] }, { "uniprot_canonical_ac": "Q61102-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Thr342", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" } ] } ] }, { "uniprot_canonical_ac": "Q61102-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Glu433", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Exhibits siderocytosis with increased zinc protoporphyrin.", "evidence": [ { "database": "UniProtKB", "id": "Q61102", "url": "https://www.uniprot.org/uniprotkb/Q61102" }, { "database": "PubMed", "id": "17192398", "url": "https://glygen.org/publication/PubMed/17192398" } ] } ] } ], "record_id": "Q61102-1" }, { "uniprot_canonical_ac": "Q61151-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61151", "url": "https://www.uniprot.org/uniprotkb/Q61151" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 467, "chemical_mass": 54713.0, "gene_names": "Ppp2r5e;4633401M22Rik;B56beta;Kiaa4006;Ppp2r5e", "protein_name": "Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform", "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: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": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61151", "url": "https://www.uniprot.org/uniprotkb/Q61151" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61151", "url": "https://www.uniprot.org/uniprotkb/Q61151" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q61151", "url": "https://www.uniprot.org/uniprotkb/Q61151" } ], "pmid": "" }, { "name": "protein phosphatase type 2A complex", "id": "GO:0000159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000159", "evidence": [ { "database": "UniProtKB", "id": "Q61151", "url": "https://www.uniprot.org/uniprotkb/Q61151" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q61151", "url": "https://www.uniprot.org/uniprotkb/Q61151" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q61151", "url": "https://www.uniprot.org/uniprotkb/Q61151" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q61151", "url": "https://www.uniprot.org/uniprotkb/Q61151" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein phosphatase activator activity", "id": "GO:0072542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072542", "evidence": [ { "database": "UniProtKB", "id": "Q61151", "url": "https://www.uniprot.org/uniprotkb/Q61151" } ], "pmid": "" }, { "name": "protein phosphatase regulator activity", "id": "GO:0019888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019888", "evidence": [ { "database": "UniProtKB", "id": "Q61151", "url": "https://www.uniprot.org/uniprotkb/Q61151" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61151-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Ser30", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61151", "url": "https://www.uniprot.org/uniprotkb/Q61151" } ] } ] }, { "uniprot_canonical_ac": "Q61151-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Ser32", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61151", "url": "https://www.uniprot.org/uniprotkb/Q61151" } ] } ] }, { "uniprot_canonical_ac": "Q61151-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ser34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61151", "url": "https://www.uniprot.org/uniprotkb/Q61151" } ] } ] }, { "uniprot_canonical_ac": "Q61151-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Thr7", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61151", "url": "https://www.uniprot.org/uniprotkb/Q61151" } ] } ] } ], "record_id": "Q61151-1" }, { "uniprot_canonical_ac": "Q64264-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 421, "chemical_mass": 46176.0, "gene_names": "Htr1a;Gpcr18;Htr1a", "protein_name": "5-hydroxytryptamine receptor 1A", "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: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:14320", "name": "generalized anxiety disorder", "description": "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation.", "url": "https://disease-ontology.org/term/DOID:14320", "evidence": [ { "id": "14320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14320" } ], "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: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: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: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: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:8645", "name": "subacute delirium", "description": "", "url": "https://disease-ontology.org/term/DOID:8645", "evidence": [ { "id": "8645", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8645" } ], "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": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "axon hillock", "id": "GO:0043203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043203", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of microtubule depolymerization", "id": "GO:0031117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031117", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "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": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "regulation of hormone secretion", "id": "GO:0046883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046883", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "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": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid signaling pathway", "id": "GO:0007214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007214", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "regulation of vasoconstriction", "id": "GO:0019229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019229", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "exploration behavior", "id": "GO:0035640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035640", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "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": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "serotonin receptor signaling pathway", "id": "GO:0007210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007210", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "regulation of feeding behavior", "id": "GO:0060259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060259", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "behavioral fear response", "id": "GO:0001662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001662", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "regulation of serotonin secretion", "id": "GO:0014062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014062", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "serotonin metabolic process", "id": "GO:0042428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042428", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "regulation of dopamine metabolic process", "id": "GO:0042053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042053", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "NMDA glutamate receptor clustering", "id": "GO:0097114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097114", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "vocalization behavior", "id": "GO:0071625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071625", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "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": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "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": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "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": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "neurotransmitter receptor activity", "id": "GO:0030594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030594", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "serotonin binding", "id": "GO:0051378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051378", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "G-protein alpha-subunit binding", "id": "GO:0001965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001965", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "receptor-receptor interaction", "id": "GO:0090722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090722", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "Gi/o-coupled serotonin receptor activity", "id": "GO:0001586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001586", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" }, { "name": "serotonin receptor activity", "id": "GO:0099589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099589", "evidence": [ { "database": "UniProtKB", "id": "Q64264", "url": "https://www.uniprot.org/uniprotkb/Q64264" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q64264-1", "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": "Q64264", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64264#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64264-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Asn11", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 11, "start_aa": "Asn", "end_pos": 11, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn11", "evidence": [ { "id": "Q64264", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64264#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64264-1", "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": "Q64264", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64264#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q64264-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Asn30", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 30, "start_aa": "Asn", "end_pos": 30, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn30", "evidence": [ { "id": "Q64264", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q64264#ptm_processing" } ] } ] } ], "record_id": "Q64264-1" }, { "uniprot_canonical_ac": "Q6Q2Z6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6Q2Z6", "url": "https://www.uniprot.org/uniprotkb/Q6Q2Z6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 421, "chemical_mass": 46573.0, "gene_names": "Acot5;Acot5;PTE-Ic", "protein_name": "Acyl-coenzyme A thioesterase 5", "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": "Q6Q2Z6", "url": "https://www.uniprot.org/uniprotkb/Q6Q2Z6" } ], "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": "Q6Q2Z6", "url": "https://www.uniprot.org/uniprotkb/Q6Q2Z6" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q6Q2Z6", "url": "https://www.uniprot.org/uniprotkb/Q6Q2Z6" } ], "pmid": "" }, { "name": "acyl-CoA metabolic process", "id": "GO:0006637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006637", "evidence": [ { "database": "UniProtKB", "id": "Q6Q2Z6", "url": "https://www.uniprot.org/uniprotkb/Q6Q2Z6" } ], "pmid": "" }, { "name": "saturated monocarboxylic acid metabolic process", "id": "GO:0032788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032788", "evidence": [ { "database": "UniProtKB", "id": "Q6Q2Z6", "url": "https://www.uniprot.org/uniprotkb/Q6Q2Z6" } ], "pmid": "" }, { "name": "unsaturated monocarboxylic acid metabolic process", "id": "GO:0032789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032789", "evidence": [ { "database": "UniProtKB", "id": "Q6Q2Z6", "url": "https://www.uniprot.org/uniprotkb/Q6Q2Z6" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q6Q2Z6", "url": "https://www.uniprot.org/uniprotkb/Q6Q2Z6" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q6Q2Z6", "url": "https://www.uniprot.org/uniprotkb/Q6Q2Z6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6Q2Z6", "url": "https://www.uniprot.org/uniprotkb/Q6Q2Z6" } ], "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": "Q6Q2Z6", "url": "https://www.uniprot.org/uniprotkb/Q6Q2Z6" } ], "pmid": "" }, { "name": "carboxylic ester hydrolase activity", "id": "GO:0052689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052689", "evidence": [ { "database": "UniProtKB", "id": "Q6Q2Z6", "url": "https://www.uniprot.org/uniprotkb/Q6Q2Z6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6Q2Z6-1" }, { "uniprot_canonical_ac": "Q78JT3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 286, "chemical_mass": 32804.0, "gene_names": "Haao;0610007K21Rik;0610012J07Rik;3-HAOxase;3-HAO;3HAO;Haao", "protein_name": "3-hydroxyanthranilate 3,4-dioxygenase", "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: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 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "pmid": "" }, { "name": "3-hydroxyanthranilate 3,4-dioxygenase activity", "id": "GO:0000334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000334", "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "pmid": "" }, { "name": "ferrous iron binding", "id": "GO:0008198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008198", "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "pmid": "" }, { "name": "oxygen binding", "id": "GO:0019825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019825", "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "pmid": "" } ], "biological_process": [ { "name": "L-tryptophan catabolic process", "id": "GO:0006569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006569", "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "pmid": "" }, { "name": "response to zinc ion", "id": "GO:0010043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010043", "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "pmid": "" }, { "name": "neuron cellular homeostasis", "id": "GO:0070050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070050", "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "pmid": "" }, { "name": "NAD+ biosynthetic process", "id": "GO:0009435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009435", "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "pmid": "" }, { "name": "quinolinate biosynthetic process", "id": "GO:0019805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019805", "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "pmid": "" }, { "name": "anthranilate metabolic process", "id": "GO:0043420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043420", "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "pmid": "" }, { "name": "'de novo' NAD+ biosynthetic process from L-tryptophan", "id": "GO:0034354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034354", "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "pmid": "" }, { "name": "quinolinate metabolic process", "id": "GO:0046874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046874", "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "pmid": "" }, { "name": "pyridine nucleotide biosynthetic process", "id": "GO:0019363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019363", "evidence": [ { "database": "UniProtKB", "id": "Q78JT3", "url": "https://www.uniprot.org/uniprotkb/Q78JT3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q78JT3-1" }, { "uniprot_canonical_ac": "Q7TQI7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TQI7", "url": "https://www.uniprot.org/uniprotkb/Q7TQI7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1024, "chemical_mass": 113503.0, "gene_names": "Abtb2;Abtb2", "protein_name": "Ankyrin repeat and BTB/POZ domain-containing protein 2", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI7", "url": "https://www.uniprot.org/uniprotkb/Q7TQI7" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI7", "url": "https://www.uniprot.org/uniprotkb/Q7TQI7" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to toxic substance", "id": "GO:0097237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097237", "evidence": [ { "database": "UniProtKB", "id": "Q7TQI7", "url": "https://www.uniprot.org/uniprotkb/Q7TQI7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7TQI7-1" }, { "uniprot_canonical_ac": "Q80VV3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80VV3", "url": "https://www.uniprot.org/uniprotkb/Q80VV3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 101, "chemical_mass": 11019.0, "gene_names": "Eif4ebp3;4e-bp3;Eif4ebp3", "protein_name": "Eukaryotic translation initiation factor 4E-binding protein 3", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q80VV3", "url": "https://www.uniprot.org/uniprotkb/Q80VV3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80VV3", "url": "https://www.uniprot.org/uniprotkb/Q80VV3" } ], "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": "Q80VV3", "url": "https://www.uniprot.org/uniprotkb/Q80VV3" } ], "pmid": "" }, { "name": "translation repressor activity", "id": "GO:0030371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030371", "evidence": [ { "database": "UniProtKB", "id": "Q80VV3", "url": "https://www.uniprot.org/uniprotkb/Q80VV3" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "Q80VV3", "url": "https://www.uniprot.org/uniprotkb/Q80VV3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q80VV3-1" }, { "uniprot_canonical_ac": "Q8BXF8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BXF8", "url": "https://www.uniprot.org/uniprotkb/Q8BXF8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 369, "chemical_mass": 40443.0, "gene_names": "Actrt3;1700119I24Rik;ARP-T3;Actrt3;Arpm1", "protein_name": "Actin-related protein T3", "disease": [ { "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: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: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 } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "Q8BXF8", "url": "https://www.uniprot.org/uniprotkb/Q8BXF8" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BXF8", "url": "https://www.uniprot.org/uniprotkb/Q8BXF8" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q8BXF8", "url": "https://www.uniprot.org/uniprotkb/Q8BXF8" } ], "pmid": "" }, { "name": "male germ cell nucleus", "id": "GO:0001673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001673", "evidence": [ { "database": "UniProtKB", "id": "Q8BXF8", "url": "https://www.uniprot.org/uniprotkb/Q8BXF8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BXF8-1" }, { "uniprot_canonical_ac": "Q8BYZ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 367, "chemical_mass": 39107.0, "gene_names": "Abi3;2210414K06Rik;Abi3;NESH;Nesh", "protein_name": "ABI gene family member 3", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "SCAR complex", "id": "GO:0031209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031209", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "actin-based cell projection", "id": "GO:0098858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098858", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" } ], "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": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "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": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "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": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "regulation of dendritic spine morphogenesis", "id": "GO:0061001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061001", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "positive regulation of cellular senescence", "id": "GO:2000774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000774", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "defense response to tumor cell", "id": "GO:0002357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002357", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "cell projection morphogenesis", "id": "GO:0048858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048858", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "negative regulation of lamellipodium assembly", "id": "GO:0010593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010593", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "regulation of postsynaptic density assembly", "id": "GO:0099151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099151", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BYZ1-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Thr237", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 237, "start_aa": "Thr", "end_pos": 237, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr237", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BYZ1-1", "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": "Q8BYZ1-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BYZ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BYZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BYZ1-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Ser219", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BYZ1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BYZ1" } ] } ] }, { "uniprot_canonical_ac": "Q8BYZ1-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Ser343", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BYZ1", "url": "https://www.uniprot.org/uniprotkb/Q8BYZ1" } ] } ] } ], "record_id": "Q8BYZ1-1" }, { "uniprot_canonical_ac": "Q8K2H4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K2H4", "url": "https://www.uniprot.org/uniprotkb/Q8K2H4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 740, "chemical_mass": 81704.0, "gene_names": "Acap1;Acap1;Centb1;Kiaa0050", "protein_name": "Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1", "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": "Q8K2H4", "url": "https://www.uniprot.org/uniprotkb/Q8K2H4" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8K2H4", "url": "https://www.uniprot.org/uniprotkb/Q8K2H4" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8K2H4", "url": "https://www.uniprot.org/uniprotkb/Q8K2H4" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q8K2H4", "url": "https://www.uniprot.org/uniprotkb/Q8K2H4" } ], "pmid": "" } ], "cellular_component": [ { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q8K2H4", "url": "https://www.uniprot.org/uniprotkb/Q8K2H4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K2H4-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Arg448", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Loss of catalytic activity. No loss of accumulation of coat proteins on internal membranes upon overexpression of Acap1.", "evidence": [ { "database": "UniProtKB", "id": "Q8K2H4", "url": "https://www.uniprot.org/uniprotkb/Q8K2H4" }, { "database": "PubMed", "id": "17664335", "url": "https://glygen.org/publication/PubMed/17664335" } ] } ] } ], "record_id": "Q8K2H4-1" }, { "uniprot_canonical_ac": "Q8K440-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1620, "chemical_mass": 183039.0, "gene_names": "Abca8b;Abca8b;Abca8;Kiaa0822", "protein_name": "ABC-type organic anion transporter ABCA8B", "disease": [], "biological_process": [ { "name": "sphingomyelin biosynthetic process", "id": "GO:0006686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006686", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" }, { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" }, { "name": "xenobiotic transmembrane transport", "id": "GO:0006855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006855", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" }, { "name": "cholesterol transport", "id": "GO:0030301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030301", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" }, { "name": "regulation of cholesterol efflux", "id": "GO:0010874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010874", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" }, { "name": "xenobiotic transport", "id": "GO:0042908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" }, { "name": "ABC-type xenobiotic transporter activity", "id": "GO:0008559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008559", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q8K440", "url": "https://www.uniprot.org/uniprotkb/Q8K440" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K440-1", "start_pos": "1306", "end_pos": "1306", "site_lbl": "Asn1306", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G10846ZT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NVSFCVR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1306, "start_aa": "Asn", "end_pos": 1306, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1306", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8K440-1", "start_pos": "1355", "end_pos": "1355", "site_lbl": "Thr1355", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1355, "start_aa": "Thr", "end_pos": 1355, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1355", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8K440-1", "start_pos": "723", "end_pos": "723", "site_lbl": "Asn723", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 723, "start_aa": "Asn", "end_pos": 723, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn723", "evidence": [ { "id": "Q8K440", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K440#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8K440-1", "start_pos": "965", "end_pos": "965", "site_lbl": "Asn965", "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": "NHSFSFACNTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 965, "start_aa": "Asn", "end_pos": 965, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn965", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "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": "Q8K440-1" }, { "uniprot_canonical_ac": "Q8K441-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K441", "url": "https://www.uniprot.org/uniprotkb/Q8K441" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1624, "chemical_mass": 183283.0, "gene_names": "Abca6;6330565N06Rik;Abca6", "protein_name": "ATP-binding cassette sub-family A member 6", "disease": [], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q8K441", "url": "https://www.uniprot.org/uniprotkb/Q8K441" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8K441", "url": "https://www.uniprot.org/uniprotkb/Q8K441" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K441", "url": "https://www.uniprot.org/uniprotkb/Q8K441" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "Q8K441", "url": "https://www.uniprot.org/uniprotkb/Q8K441" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8K441", "url": "https://www.uniprot.org/uniprotkb/Q8K441" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q8K441", "url": "https://www.uniprot.org/uniprotkb/Q8K441" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q8K441", "url": "https://www.uniprot.org/uniprotkb/Q8K441" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q8K441", "url": "https://www.uniprot.org/uniprotkb/Q8K441" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "Q8K441", "url": "https://www.uniprot.org/uniprotkb/Q8K441" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K441-1", "start_pos": "544", "end_pos": "544", "site_lbl": "Asn544", "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": "NLSDMQDLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 544, "start_aa": "Asn", "end_pos": 544, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn544", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8K441-1", "start_pos": "576", "end_pos": "576", "site_lbl": "Asn576", "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": "ENLTLFAKIK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 576, "start_aa": "Asn", "end_pos": 576, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn576", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 576, "start_aa": "Asn", "end_pos": 576, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn576", "evidence": [ { "id": "Q8K441", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K441#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8K441-1", "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": "Q8K441", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K441#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8K441-1", "start_pos": "911", "end_pos": "911", "site_lbl": "Asn911", "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": "TSLLVINNTESNIEDFLQSLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 911, "start_aa": "Asn", "end_pos": 911, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn911", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8K441-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Asn91", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q8K441", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K441#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8K441-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Pro437", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPT->NTT).", "chr_id": "11", "chr_pos": "110123008", "evidence": [ { "id": "rs3402672249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402672249" } ] } ] }, { "uniprot_canonical_ac": "Q8K441-1", "start_pos": "715", "end_pos": "715", "site_lbl": "Asp715", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DET->NET).", "chr_id": "11", "chr_pos": "110107471", "evidence": [ { "id": "rs27036775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27036775" } ] } ] } ], "record_id": "Q8K441-1" }, { "uniprot_canonical_ac": "Q8K449-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K449", "url": "https://www.uniprot.org/uniprotkb/Q8K449" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1623, "chemical_mass": 183114.0, "gene_names": "Abca9;Abca9;D630040K07Rik", "protein_name": "ATP-binding cassette sub-family A member 9", "disease": [], "molecular_function": [ { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "Q8K449", "url": "https://www.uniprot.org/uniprotkb/Q8K449" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8K449", "url": "https://www.uniprot.org/uniprotkb/Q8K449" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q8K449", "url": "https://www.uniprot.org/uniprotkb/Q8K449" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q8K449", "url": "https://www.uniprot.org/uniprotkb/Q8K449" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q8K449", "url": "https://www.uniprot.org/uniprotkb/Q8K449" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8K449", "url": "https://www.uniprot.org/uniprotkb/Q8K449" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8K449", "url": "https://www.uniprot.org/uniprotkb/Q8K449" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "Q8K449", "url": "https://www.uniprot.org/uniprotkb/Q8K449" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K449-1", "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": "SMNELDLNYSIDAVR", "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": "Q8K449", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8K449#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NYS->HYS).", "chr_id": "11", "chr_pos": "110051337", "evidence": [ { "id": "rs3389148436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389148436" } ] } ] }, { "uniprot_canonical_ac": "Q8K449-1", "start_pos": "1310", "end_pos": "1310", "site_lbl": "Asn1310", "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": "NISFCVKK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1310, "start_aa": "Asn", "end_pos": 1310, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1310", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8K449-1", "start_pos": "948", "end_pos": "948", "site_lbl": "Asn948", "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": "NGTEEALYNGAITVLGEEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 948, "start_aa": "Asn", "end_pos": 948, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn948", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8K449-1", "start_pos": "1501", "end_pos": "1501", "site_lbl": "Ile1501", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IGS->NGS).", "chr_id": "11", "chr_pos": "109998091", "evidence": [ { "id": "rs3412161855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412161855" } ] } ] } ], "record_id": "Q8K449-1" }, { "uniprot_canonical_ac": "Q8R420-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1704, "chemical_mass": 191971.0, "gene_names": "Abca3;1810036E22Rik;ABC-C;Abc3;Abca3", "protein_name": "Phospholipid-transporting ATPase ABCA3", "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:11161", "name": "neonatal respiratory failure", "description": "A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates.", "url": "https://disease-ontology.org/term/DOID:11161", "evidence": [ { "id": "11161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11161" } ], "weight": 0.0 }, { "disease_id": "DOID:11162", "name": "respiratory failure", "description": "A lung disease characterized by inadequate gas exchange by the respiratory system.", "url": "https://disease-ontology.org/term/DOID:11162", "evidence": [ { "id": "11162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11162" } ], "weight": 0.0 }, { "disease_id": "DOID:12120", "name": "pulmonary alveolar proteinosis", "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.", "url": "https://disease-ontology.org/term/DOID:12120", "evidence": [ { "id": "12120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12120" } ], "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:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "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 } ], "biological_process": [ { "name": "regulation of lipid transport", "id": "GO:0032368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032368", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "surfactant homeostasis", "id": "GO:0043129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043129", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "phospholipid transport", "id": "GO:0015914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015914", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "phospholipid homeostasis", "id": "GO:0055091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055091", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "phosphatidylcholine metabolic process", "id": "GO:0046470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046470", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "positive regulation of phospholipid efflux", "id": "GO:1902995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902995", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "xenobiotic transmembrane transport", "id": "GO:0006855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006855", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "positive regulation of vesicle fusion", "id": "GO:0031340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031340", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "positive regulation of protein homooligomerization", "id": "GO:0032464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032464", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "organelle assembly", "id": "GO:0070925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070925", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "regulation of lipid biosynthetic process", "id": "GO:0046890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046890", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "phosphatidylglycerol metabolic process", "id": "GO:0046471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046471", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "xenobiotic export from cell", "id": "GO:0046618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046618", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "positive regulation of phospholipid transport", "id": "GO:2001140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001140", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "xenobiotic transport", "id": "GO:0042908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "regulation of phosphatidylcholine metabolic process", "id": "GO:0150172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150172", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "ABC-type xenobiotic transporter activity", "id": "GO:0008559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008559", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "phosphatidylcholine flippase activity", "id": "GO:0140345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140345", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "phosphatidylcholine transfer activity", "id": "GO:0120019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120019", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "alveolar lamellar body", "id": "GO:0097208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097208", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "lamellar body membrane", "id": "GO:0097232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097232", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "alveolar lamellar body membrane", "id": "GO:0097233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097233", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "multivesicular body membrane", "id": "GO:0032585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032585", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" }, { "name": "lamellar body", "id": "GO:0042599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042599", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R420-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Asn124", "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": "YDNHSSSVLAAVVFEHSFNHSQDPLPLAVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "Q8R420", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R420#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R420-1", "start_pos": "1300", "end_pos": "1300", "site_lbl": "Thr1300", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1300, "start_aa": "Thr", "end_pos": 1300, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1300", "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": "17", "chr_pos": "24621274", "evidence": [ { "id": "rs3407443077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407443077" } ] } ] }, { "uniprot_canonical_ac": "Q8R420-1", "start_pos": "1350", "end_pos": "1350", "site_lbl": "Asn1350", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1350, "start_aa": "Asn", "end_pos": 1350, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1350", "evidence": [ { "id": "Q8R420", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R420#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R420-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Asn140", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G63040RU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YDNHSSSVLAAVVFEHSFNHSQDPLPLAVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 140, "start_aa": "Asn", "end_pos": 140, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn140", "evidence": [ { "id": "Q8R420", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R420#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R420-1", "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": "Q8R420", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R420#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R420-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Asn228", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G47644PP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "YHANTSAQQLFQK", "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": "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": 228, "start_aa": "Asn", "end_pos": 228, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn228", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2141", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2141" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_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": "Q8R420", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R420#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R420-1", "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": "Q8R420", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R420#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R420-1", "start_pos": "620", "end_pos": "620", "site_lbl": "Asn620", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 620, "start_aa": "Asn", "end_pos": 620, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn620", "evidence": [ { "id": "Q8R420", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R420#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R420-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Glu292", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Knockin new born mice are healthy and survive into adulthood without overt signs of respiratory distress. Knockin mice show a severe lung phenotype that begins with alveolar inflammatory cell infiltration at the early stage of the mouse life followed by aberrant lung remodeling with characteristics of diffuse parenchymal lung disease (DPLD)- and emphysema-like alveolar disruption in older mice.", "evidence": [ { "database": "UniProtKB", "id": "Q8R420", "url": "https://www.uniprot.org/uniprotkb/Q8R420" }, { "database": "PubMed", "id": "28034695", "url": "https://glygen.org/publication/PubMed/28034695" } ] } ] } ], "record_id": "Q8R420-1" }, { "uniprot_canonical_ac": "Q8R493-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 495, "chemical_mass": 55809.0, "gene_names": "Chrnb4;Acrb-4;Acrb4;Chrnb4", "protein_name": "Neuronal acetylcholine receptor subunit beta-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: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: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: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: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: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: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: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 } ], "cellular_component": [ { "name": "cation channel complex", "id": "GO:0034703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034703", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "acetylcholine-gated channel complex", "id": "GO:0005892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005892", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "cholinergic synapse", "id": "GO:0098981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098981", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "postsynaptic specialization membrane", "id": "GO:0099634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099634", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "neurotransmitter receptor complex", "id": "GO:0098878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098878", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" } ], "biological_process": [ { "name": "smooth muscle contraction", "id": "GO:0006939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006939", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "regulation of smooth muscle contraction", "id": "GO:0006940", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006940", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "neuronal action potential", "id": "GO:0019228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019228", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "behavioral response to nicotine", "id": "GO:0035095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035095", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "synaptic transmission involved in micturition", "id": "GO:0060084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060084", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "acetylcholine receptor signaling pathway", "id": "GO:0095500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0095500", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "action potential", "id": "GO:0001508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001508", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "regulation of appetite", "id": "GO:0032098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032098", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "membrane depolarization", "id": "GO:0051899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051899", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "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": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" } ], "molecular_function": [ { "name": "acetylcholine receptor activity", "id": "GO:0015464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015464", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "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": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "acetylcholine binding", "id": "GO:0042166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042166", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "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": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" }, { "name": "heterocyclic compound binding", "id": "GO:1901363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901363", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R493-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Asn137", "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": "SNGSIQWLPPAIYK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "Q8R493", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R493#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R493-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Asn165", "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": "HFPFDQQNCTLK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 165, "start_aa": "Asn", "end_pos": 165, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn165", "evidence": [ { "id": "Q8R493", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R493#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R493-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Asn35", "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": "LMDDLLNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 35, "start_aa": "Asn", "end_pos": 35, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn35", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 35, "start_aa": "Asn", "end_pos": 35, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn35", "evidence": [ { "id": "Q8R493", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R493#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R493-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Asn92", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G27915IV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LAWNSSCYEGVNILR", "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": "Q8R493", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R493#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8R493-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Ser435", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Loss of current increase in presence of CHRNA3.", "evidence": [ { "database": "UniProtKB", "id": "Q8R493", "url": "https://www.uniprot.org/uniprotkb/Q8R493" }, { "database": "PubMed", "id": "21555077", "url": "https://glygen.org/publication/PubMed/21555077" } ] } ] } ], "record_id": "Q8R493-1" }, { "uniprot_canonical_ac": "Q8VCV1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VCV1", "url": "https://www.uniprot.org/uniprotkb/Q8VCV1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 320, "chemical_mass": 35098.0, "gene_names": "Abhd17c;2210412D01Rik;Abhd17c;Fam108c1;Fam108c", "protein_name": "Alpha/beta hydrolase domain-containing protein 17C", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8VCV1", "url": "https://www.uniprot.org/uniprotkb/Q8VCV1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VCV1", "url": "https://www.uniprot.org/uniprotkb/Q8VCV1" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q8VCV1", "url": "https://www.uniprot.org/uniprotkb/Q8VCV1" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q8VCV1", "url": "https://www.uniprot.org/uniprotkb/Q8VCV1" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q8VCV1", "url": "https://www.uniprot.org/uniprotkb/Q8VCV1" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q8VCV1", "url": "https://www.uniprot.org/uniprotkb/Q8VCV1" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q8VCV1", "url": "https://www.uniprot.org/uniprotkb/Q8VCV1" } ], "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": "Q8VCV1", "url": "https://www.uniprot.org/uniprotkb/Q8VCV1" } ], "pmid": "" }, { "name": "protein depalmitoylation", "id": "GO:0002084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002084", "evidence": [ { "database": "UniProtKB", "id": "Q8VCV1", "url": "https://www.uniprot.org/uniprotkb/Q8VCV1" } ], "pmid": "" }, { "name": "regulation of postsynapse organization", "id": "GO:0099175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099175", "evidence": [ { "database": "UniProtKB", "id": "Q8VCV1", "url": "https://www.uniprot.org/uniprotkb/Q8VCV1" } ], "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": "Q8VCV1", "url": "https://www.uniprot.org/uniprotkb/Q8VCV1" } ], "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": "Q8VCV1", "url": "https://www.uniprot.org/uniprotkb/Q8VCV1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VCV1-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Thr57", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 57, "start_aa": "Thr", "end_pos": 57, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr57", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q8VCV1-1" }, { "uniprot_canonical_ac": "Q8VEC3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VEC3", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 908, "chemical_mass": 101469.0, "gene_names": "Adgrf1;5031409J19Rik;Adgrf1;Gpr110;KPG_009", "protein_name": "Adhesion G protein-coupled receptor F1", "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": "Q8VEC3", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VEC3", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3" } ], "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": "Q8VEC3", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3" } ], "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": "Q8VEC3", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q8VEC3", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q8VEC3", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "Q8VEC3", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "Q8VEC3", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VEC3-1", "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": "Q8VEC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VEC3-1", "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": "Q8VEC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VEC3-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Asn328", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q8VEC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VEC3-1", "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": "Q8VEC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VEC3-1", "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": "Q8VEC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->ILT).", "chr_id": "17", "chr_pos": "43618481", "evidence": [ { "id": "rs3389443069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443069" } ] } ] }, { "uniprot_canonical_ac": "Q8VEC3-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Asn388", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 388, "start_aa": "Asn", "end_pos": 388, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn388", "evidence": [ { "id": "Q8VEC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VEC3-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Asn422", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 422, "start_aa": "Asn", "end_pos": 422, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn422", "evidence": [ { "id": "Q8VEC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VEC3-1", "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": "Q8VEC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VEC3-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Asn510", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 510, "start_aa": "Asn", "end_pos": 510, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn510", "evidence": [ { "id": "Q8VEC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VEC3-1", "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": "Q8VEC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VEC3-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Asn526", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q8VEC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VEC3-1", "start_pos": "551", "end_pos": "551", "site_lbl": "Asn551", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q8VEC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VEC3-1", "start_pos": "734", "end_pos": "734", "site_lbl": "Asn734", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 734, "start_aa": "Asn", "end_pos": 734, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn734", "evidence": [ { "id": "Q8VEC3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VEC3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VEC3-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Ser455", "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": "43621128", "evidence": [ { "id": "rs3389443051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443051" } ] } ] }, { "uniprot_canonical_ac": "Q8VEC3-1", "start_pos": "736", "end_pos": "736", "site_lbl": "Ser736", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NWS->NWF).", "chr_id": "17", "chr_pos": "43621971", "evidence": [ { "id": "rs3389455128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389455128" } ] } ] } ], "record_id": "Q8VEC3-1" }, { "uniprot_canonical_ac": "Q924I3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q924I3", "url": "https://www.uniprot.org/uniprotkb/Q924I3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 350, "chemical_mass": 39531.0, "gene_names": "Ackr4;A630091E18Rik;Ackr4;CCBP2;CCR11;CCX-CKR1;CCX-CKR;Ccr11;Ccrl1;Cmkbrl1;PPR1;VSHK1", "protein_name": "Atypical chemokine receptor 4", "disease": [], "molecular_function": [ { "name": "chemokine receptor activity", "id": "GO:0004950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004950", "evidence": [ { "database": "UniProtKB", "id": "Q924I3", "url": "https://www.uniprot.org/uniprotkb/Q924I3" } ], "pmid": "" }, { "name": "scavenger receptor activity", "id": "GO:0005044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "database": "UniProtKB", "id": "Q924I3", "url": "https://www.uniprot.org/uniprotkb/Q924I3" } ], "pmid": "" }, { "name": "C-C chemokine receptor activity", "id": "GO:0016493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016493", "evidence": [ { "database": "UniProtKB", "id": "Q924I3", "url": "https://www.uniprot.org/uniprotkb/Q924I3" } ], "pmid": "" }, { "name": "C-C chemokine binding", "id": "GO:0019957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019957", "evidence": [ { "database": "UniProtKB", "id": "Q924I3", "url": "https://www.uniprot.org/uniprotkb/Q924I3" } ], "pmid": "" } ], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q924I3", "url": "https://www.uniprot.org/uniprotkb/Q924I3" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q924I3", "url": "https://www.uniprot.org/uniprotkb/Q924I3" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q924I3", "url": "https://www.uniprot.org/uniprotkb/Q924I3" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q924I3", "url": "https://www.uniprot.org/uniprotkb/Q924I3" } ], "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": "Q924I3", "url": "https://www.uniprot.org/uniprotkb/Q924I3" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "Q924I3", "url": "https://www.uniprot.org/uniprotkb/Q924I3" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "Q924I3", "url": "https://www.uniprot.org/uniprotkb/Q924I3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q924I3-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Asn19", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 19, "start_aa": "Asn", "end_pos": 19, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn19", "evidence": [ { "id": "Q924I3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q924I3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q924I3-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Thr342", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 342, "start_aa": "Thr", "end_pos": 342, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr342", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q924I3-1", "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": "Q924I3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q924I3#ptm_processing" } ] } ] } ], "record_id": "Q924I3-1" }, { "uniprot_canonical_ac": "Q99JW1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 310, "chemical_mass": 33950.0, "gene_names": "Abhd17a;1700013O15Rik;Abhd17a;D10Bwg1364e;Fam108a", "protein_name": "Alpha/beta hydrolase domain-containing protein 17A", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "pmid": "" }, { "name": "postsynaptic recycling endosome membrane", "id": "GO:0098944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098944", "evidence": [ { "database": "UniProtKB", "id": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "pmid": "" } ], "biological_process": [ { "name": "NLRP3 inflammasome complex assembly", "id": "GO:0044546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044546", "evidence": [ { "database": "UniProtKB", "id": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "pmid": "" }, { "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": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "pmid": "" }, { "name": "protein localization to membrane", "id": "GO:0072657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072657", "evidence": [ { "database": "UniProtKB", "id": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "pmid": "" }, { "name": "protein depalmitoylation", "id": "GO:0002084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002084", "evidence": [ { "database": "UniProtKB", "id": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "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": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "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": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "pmid": "" }, { "name": "regulation of postsynapse organization", "id": "GO:0099175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099175", "evidence": [ { "database": "UniProtKB", "id": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "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": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "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": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q99JW1-1", "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": "Q99JW1-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Ser307", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q99JW1", "url": "https://www.uniprot.org/uniprotkb/Q99JW1" } ] } ] } ], "record_id": "Q99JW1-1" }, { "uniprot_canonical_ac": "Q9D9J3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D9J3", "url": "https://www.uniprot.org/uniprotkb/Q9D9J3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 376, "chemical_mass": 42216.0, "gene_names": "Actrt1;1700061J02Rik;Actrt1;Arp-T1", "protein_name": "Actin-related protein T1", "disease": [ { "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: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: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 } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9D9J3", "url": "https://www.uniprot.org/uniprotkb/Q9D9J3" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "Q9D9J3", "url": "https://www.uniprot.org/uniprotkb/Q9D9J3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9D9J3", "url": "https://www.uniprot.org/uniprotkb/Q9D9J3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9D9J3", "url": "https://www.uniprot.org/uniprotkb/Q9D9J3" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9D9J3", "url": "https://www.uniprot.org/uniprotkb/Q9D9J3" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q9D9J3", "url": "https://www.uniprot.org/uniprotkb/Q9D9J3" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9D9J3", "url": "https://www.uniprot.org/uniprotkb/Q9D9J3" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9D9J3", "url": "https://www.uniprot.org/uniprotkb/Q9D9J3" } ], "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": "Q9D9J3", "url": "https://www.uniprot.org/uniprotkb/Q9D9J3" } ], "pmid": "" }, { "name": "regulation of smoothened signaling pathway", "id": "GO:0008589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008589", "evidence": [ { "database": "UniProtKB", "id": "Q9D9J3", "url": "https://www.uniprot.org/uniprotkb/Q9D9J3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D9J3-1" }, { "uniprot_canonical_ac": "Q9JJ59-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JJ59", "url": "https://www.uniprot.org/uniprotkb/Q9JJ59" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 762, "chemical_mass": 83963.0, "gene_names": "Abcb9;Abcb9;Kiaa1520;TAPL;mKIAA1520", "protein_name": "ABC-type oligopeptide transporter ABCB9", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ59", "url": "https://www.uniprot.org/uniprotkb/Q9JJ59" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ59", "url": "https://www.uniprot.org/uniprotkb/Q9JJ59" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ59", "url": "https://www.uniprot.org/uniprotkb/Q9JJ59" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ59", "url": "https://www.uniprot.org/uniprotkb/Q9JJ59" } ], "pmid": "" }, { "name": "ABC-type oligopeptide transporter activity", "id": "GO:0015421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015421", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ59", "url": "https://www.uniprot.org/uniprotkb/Q9JJ59" } ], "pmid": "" }, { "name": "ABC-type peptide transporter activity", "id": "GO:0015440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015440", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ59", "url": "https://www.uniprot.org/uniprotkb/Q9JJ59" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ59", "url": "https://www.uniprot.org/uniprotkb/Q9JJ59" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ59", "url": "https://www.uniprot.org/uniprotkb/Q9JJ59" } ], "pmid": "" }, { "name": "peptide metabolic process", "id": "GO:0006518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006518", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ59", "url": "https://www.uniprot.org/uniprotkb/Q9JJ59" } ], "pmid": "" }, { "name": "peptide transport", "id": "GO:0015833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015833", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ59", "url": "https://www.uniprot.org/uniprotkb/Q9JJ59" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ59", "url": "https://www.uniprot.org/uniprotkb/Q9JJ59" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ59", "url": "https://www.uniprot.org/uniprotkb/Q9JJ59" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ59", "url": "https://www.uniprot.org/uniprotkb/Q9JJ59" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ59", "url": "https://www.uniprot.org/uniprotkb/Q9JJ59" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JJ59-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Asn504", "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": "VDFENVTFTYR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 504, "start_aa": "Asn", "end_pos": 504, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn504", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "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 (NVT->KVT).", "chr_id": "5", "chr_pos": "124215228", "evidence": [ { "id": "rs3388778139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388778139" } ] } ] }, { "uniprot_canonical_ac": "Q9JJ59-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Asn520", "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": "TRPHTQVLQNVSFSLSPGK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 520, "start_aa": "Asn", "end_pos": 520, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn520", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q9JJ59-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Thr506", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->NVA).", "chr_id": "5", "chr_pos": "124215224", "evidence": [ { "id": "rs3388773101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388773101" } ] } ] } ], "record_id": "Q9JJ59-1" }, { "uniprot_canonical_ac": "Q9QYL7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QYL7", "url": "https://www.uniprot.org/uniprotkb/Q9QYL7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 269, "chemical_mass": 30659.0, "gene_names": "Abt1;Abt1", "protein_name": "Activator of basal transcription 1", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9QYL7", "url": "https://www.uniprot.org/uniprotkb/Q9QYL7" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9QYL7", "url": "https://www.uniprot.org/uniprotkb/Q9QYL7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9QYL7", "url": "https://www.uniprot.org/uniprotkb/Q9QYL7" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9QYL7", "url": "https://www.uniprot.org/uniprotkb/Q9QYL7" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9QYL7", "url": "https://www.uniprot.org/uniprotkb/Q9QYL7" } ], "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": "Q9QYL7", "url": "https://www.uniprot.org/uniprotkb/Q9QYL7" } ], "pmid": "" }, { "name": "endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000447", "evidence": [ { "database": "UniProtKB", "id": "Q9QYL7", "url": "https://www.uniprot.org/uniprotkb/Q9QYL7" } ], "pmid": "" }, { "name": "endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000472", "evidence": [ { "database": "UniProtKB", "id": "Q9QYL7", "url": "https://www.uniprot.org/uniprotkb/Q9QYL7" } ], "pmid": "" }, { "name": "endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000480", "evidence": [ { "database": "UniProtKB", "id": "Q9QYL7", "url": "https://www.uniprot.org/uniprotkb/Q9QYL7" } ], "pmid": "" }, { "name": "spinal cord motor neuron differentiation", "id": "GO:0021522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021522", "evidence": [ { "database": "UniProtKB", "id": "Q9QYL7", "url": "https://www.uniprot.org/uniprotkb/Q9QYL7" } ], "pmid": "" }, { "name": "small-subunit processome assembly", "id": "GO:0034462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034462", "evidence": [ { "database": "UniProtKB", "id": "Q9QYL7", "url": "https://www.uniprot.org/uniprotkb/Q9QYL7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9QYL7-1" }, { "uniprot_canonical_ac": "Q9WV35-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WV35", "url": "https://www.uniprot.org/uniprotkb/Q9WV35" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 224, "chemical_mass": 25660.0, "gene_names": "Apobec2;Apobec2;Arp1", "protein_name": "C->U-editing enzyme APOBEC-2", "disease": [], "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": "Q9WV35", "url": "https://www.uniprot.org/uniprotkb/Q9WV35" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q9WV35", "url": "https://www.uniprot.org/uniprotkb/Q9WV35" } ], "pmid": "" }, { "name": "cytidine to uridine editing", "id": "GO:0016554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016554", "evidence": [ { "database": "UniProtKB", "id": "Q9WV35", "url": "https://www.uniprot.org/uniprotkb/Q9WV35" } ], "pmid": "" }, { "name": "mRNA modification", "id": "GO:0016556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016556", "evidence": [ { "database": "UniProtKB", "id": "Q9WV35", "url": "https://www.uniprot.org/uniprotkb/Q9WV35" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9WV35", "url": "https://www.uniprot.org/uniprotkb/Q9WV35" } ], "pmid": "" }, { "name": "cytidine deaminase activity", "id": "GO:0004126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004126", "evidence": [ { "database": "UniProtKB", "id": "Q9WV35", "url": "https://www.uniprot.org/uniprotkb/Q9WV35" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9WV35", "url": "https://www.uniprot.org/uniprotkb/Q9WV35" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9WV35", "url": "https://www.uniprot.org/uniprotkb/Q9WV35" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WV35", "url": "https://www.uniprot.org/uniprotkb/Q9WV35" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9WV35", "url": "https://www.uniprot.org/uniprotkb/Q9WV35" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WV35", "url": "https://www.uniprot.org/uniprotkb/Q9WV35" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9WV35-1" }, { "uniprot_canonical_ac": "Q3UYH7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 688, "chemical_mass": 79657.0, "gene_names": "Grk3;4833444A01Rik;Adrbk-2;Adrbk2;Bark-2;Grk3", "protein_name": "G protein-coupled receptor kinase 3", "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: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: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: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": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "dendrite terminus", "id": "GO:0044292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044292", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" } ], "biological_process": [ { "name": "rhodopsin metabolic process", "id": "GO:0046154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046154", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "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": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "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": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "inositol phosphate metabolic process", "id": "GO:0043647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043647", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "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": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "beta-adrenergic receptor kinase activity", "id": "GO:0047696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047696", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "D1 dopamine receptor binding", "id": "GO:0031748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031748", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q3UYH7", "url": "https://www.uniprot.org/uniprotkb/Q3UYH7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UYH7-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Ser41", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 41, "start_aa": "Ser", "end_pos": 41, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser41", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q3UYH7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3UYH7" }, { "id": "Q3UYH7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q3UYH7" } ] } ] } ], "record_id": "Q3UYH7-1" }, { "uniprot_canonical_ac": "Q3U829-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 807, "chemical_mass": 89407.0, "gene_names": "Ap5z1;Ap5z1;C330006K01Rik;Kiaa0415", "protein_name": "AP-5 complex subunit zeta-1", "disease": [ { "disease_id": "DOID:0110800", "name": "hereditary spastic paraplegia 48", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1.", "url": "https://disease-ontology.org/term/DOID:0110800", "evidence": [ { "id": "0110800", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110800" } ], "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 } ], "biological_process": [ { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "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": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" }, { "name": "lysosomal protein catabolic process", "id": "GO:1905146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905146", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" }, { "name": "axon development", "id": "GO:0061564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061564", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" }, { "name": "late endosome to Golgi transport", "id": "GO:0034499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034499", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" }, { "name": "AP-5 adaptor complex", "id": "GO:0044599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044599", "evidence": [ { "database": "UniProtKB", "id": "Q3U829", "url": "https://www.uniprot.org/uniprotkb/Q3U829" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3U829-1" }, { "uniprot_canonical_ac": "P61110-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P61110", "url": "https://www.uniprot.org/uniprotkb/P61110" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 121, "chemical_mass": 13263.0, "gene_names": "Kap;FKSG22;Kap", "protein_name": "Kidney androgen-regulated protein", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P61110", "url": "https://www.uniprot.org/uniprotkb/P61110" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P61110-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Thr60", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P61110", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P61110" }, { "database": "PubMed", "id": "21980535", "url": "https://glygen.org/publication/PubMed/21980535" } ] } ] }, { "uniprot_canonical_ac": "P61110-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P61110", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P61110" }, { "database": "PubMed", "id": "21980535", "url": "https://glygen.org/publication/PubMed/21980535" } ] } ] }, { "uniprot_canonical_ac": "P61110-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Thr66", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P61110", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P61110" }, { "database": "PubMed", "id": "21980535", "url": "https://glygen.org/publication/PubMed/21980535" } ] } ] }, { "uniprot_canonical_ac": "P61110-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Ser86", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P61110", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P61110" }, { "database": "PubMed", "id": "21980535", "url": "https://glygen.org/publication/PubMed/21980535" } ] } ] }, { "uniprot_canonical_ac": "P61110-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Thr87", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P61110", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P61110" }, { "database": "PubMed", "id": "21980535", "url": "https://glygen.org/publication/PubMed/21980535" } ] } ] } ], "record_id": "P61110-1" }, { "uniprot_canonical_ac": "P97449-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 966, "chemical_mass": 109651.0, "gene_names": "Anpep;AP-M;AP-N;Anpep;Apn;Cd13;Lap-1;Lap1;P150", "protein_name": "Aminopeptidase N", "disease": [ { "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 } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "pmid": "" }, { "name": "angiotensin maturation", "id": "GO:0002003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002003", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "pmid": "" }, { "name": "peptide catabolic process", "id": "GO:0043171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043171", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment", "id": "GO:0005793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005793", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "pmid": "" } ], "molecular_function": [ { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "pmid": "" }, { "name": "aminopeptidase activity", "id": "GO:0004177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004177", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "pmid": "" }, { "name": "metalloaminopeptidase activity", "id": "GO:0070006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070006", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "pmid": "" }, { "name": "alanyl aminopeptidase activity", "id": "GO:0016285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016285", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97449-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Asn106", "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": 106, "start_aa": "Asn", "end_pos": 106, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn106", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2126", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2126" } ] }, { "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": 106, "start_aa": "Asn", "end_pos": 106, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn106", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2126", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2126" } ] }, { "glytoucan_ac": "G31596OQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PYLTPNNQGLYIFQGNSTVR", "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": "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": 106, "start_aa": "Asn", "end_pos": 106, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn106", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2126", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2126" } ] }, { "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": 106, "start_aa": "Asn", "end_pos": 106, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn106", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2126", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2126" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_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": "P97449", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97449#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NST->SST).", "chr_id": "7", "chr_pos": "79491683", "evidence": [ { "id": "rs3545905022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545905022" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Asn114", "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": 114, "start_aa": "Asn", "end_pos": 114, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn114", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2126", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2126" } ] }, { "glytoucan_ac": "G43769HG", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FTCNQTTDVIIIHSK", "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": "P97449", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97449#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "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": "2126", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2126" } ] }, { "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": "2126", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2126" } ] }, { "glytoucan_ac": "G10486CT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KLNYTLK", "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": "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": 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": "2126", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2126" } ] }, { "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": "2126", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2126" } ] }, { "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": 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": "2126", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2126" } ] }, { "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": 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": "2126", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2126" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "P97449", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97449#ptm_processing" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Asn234", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "P97449", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97449#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "288", "end_pos": "288", "site_lbl": "Asn288", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "P97449", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97449#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Asn318", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 318, "start_aa": "Asn", "end_pos": 318, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn318", "evidence": [ { "id": "P97449", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97449#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Asn332", "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": 332, "start_aa": "Asn", "end_pos": 332, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn332", "evidence": [ { "id": "P97449", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97449#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "573", "end_pos": "573", "site_lbl": "Asn573", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 573, "start_aa": "Asn", "end_pos": 573, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn573", "evidence": [ { "id": "P97449", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97449#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "606", "end_pos": "606", "site_lbl": "Asn606", "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": "SGQEDHYWLDVEKNQSAK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 606, "start_aa": "Asn", "end_pos": 606, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn606", "evidence": [ { "id": "P97449", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97449#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": "P97449-1", "start_pos": "624", "end_pos": "624", "site_lbl": "Asn624", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 624, "start_aa": "Asn", "end_pos": 624, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn624", "evidence": [ { "id": "P97449", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97449#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVT->KVT).", "chr_id": "7", "chr_pos": "79485113", "evidence": [ { "id": "rs3398114361", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398114361" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "734", "end_pos": "734", "site_lbl": "Asn734", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G27915IV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QVTPLFFYFQNR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 734, "start_aa": "Asn", "end_pos": 734, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn734", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 734, "start_aa": "Asn", "end_pos": 734, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn734", "evidence": [ { "id": "P97449", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97449#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "784", "end_pos": "784", "site_lbl": "Asn784", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G07717JX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NPNNNTIHPNLR", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 784, "start_aa": "Asn", "end_pos": 784, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn784", "evidence": [ { "id": "P97449", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97449#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": "P97449-1", "start_pos": "817", "end_pos": "817", "site_lbl": "Asn817", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G07246CJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NATLVNEADK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 817, "start_aa": "Asn", "end_pos": 817, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn817", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 817, "start_aa": "Asn", "end_pos": 817, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn817", "evidence": [ { "id": "P97449", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97449#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "19656770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19656770" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NAT->TAT).", "chr_id": "7", "chr_pos": "79476415", "evidence": [ { "id": "rs227203719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227203719" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "852", "end_pos": "852", "site_lbl": "Tyr852", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "P97449", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97449" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Ser290", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NIS->NII).", "chr_id": "7", "chr_pos": "79490646", "evidence": [ { "id": "rs3388923993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388923993" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Gly411", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NEG->NES).", "chr_id": "7", "chr_pos": "79488695", "evidence": [ { "id": "rs3388908855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908855" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Asn557", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTN->NTS).", "chr_id": "7", "chr_pos": "79486051", "evidence": [ { "id": "rs8279793", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs8279793" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "583", "end_pos": "583", "site_lbl": "Ile583", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NYI->NYT).", "chr_id": "7", "chr_pos": "79485785", "evidence": [ { "id": "rs213430640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213430640" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Glu354", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces substrate affinity of SLC6A19-mediated amino acid transport.", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" }, { "database": "PubMed", "id": "22677001", "url": "https://glygen.org/publication/PubMed/22677001" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Glu388", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "No impact on substrate affinity of SLC6A19-mediated amino acid transport.", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" }, { "database": "PubMed", "id": "22677001", "url": "https://glygen.org/publication/PubMed/22677001" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Glu410", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces substrate affinity of SLC6A19-mediated amino acid transport.", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" }, { "database": "PubMed", "id": "22677001", "url": "https://glygen.org/publication/PubMed/22677001" } ] } ] }, { "uniprot_canonical_ac": "P97449-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Tyr476", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No impact on substrate affinity of SLC6A19-mediated amino acid transport.", "evidence": [ { "database": "UniProtKB", "id": "P97449", "url": "https://www.uniprot.org/uniprotkb/P97449" }, { "database": "PubMed", "id": "22677001", "url": "https://glygen.org/publication/PubMed/22677001" } ] } ] } ], "record_id": "P97449-1" }, { "uniprot_canonical_ac": "P56404-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 261, "chemical_mass": 27797.0, "gene_names": "Aqp8;AQP-8;Aqp8", "protein_name": "Aquaporin-8", "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 } ], "cellular_component": [ { "name": "intracellular vesicle", "id": "GO:0097708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097708", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "smooth endoplasmic reticulum", "id": "GO:0005790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005790", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "smooth endoplasmic reticulum membrane", "id": "GO:0030868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030868", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "intracellular canaliculus", "id": "GO:0046691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046691", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "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": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "canalicular bile acid transport", "id": "GO:0015722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015722", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "regulation of cholesterol biosynthetic process", "id": "GO:0045540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045540", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "water transport", "id": "GO:0006833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006833", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "urea transport", "id": "GO:0015840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015840", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "transepithelial water transport", "id": "GO:0035377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035377", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "ammonium transmembrane transport", "id": "GO:0072488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072488", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "cellular detoxification", "id": "GO:1990748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990748", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "hydrogen peroxide transmembrane transport", "id": "GO:0080170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080170", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "ammonium import across plasma membrane", "id": "GO:0140157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140157", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "methylammonium transmembrane transport", "id": "GO:0072489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072489", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "methylammonium transport", "id": "GO:0015843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015843", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "one-carbon compound transport", "id": "GO:0019755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019755", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" } ], "molecular_function": [ { "name": "water channel activity", "id": "GO:0015250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015250", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "urea channel activity", "id": "GO:0015265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015265", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "ammonium channel activity", "id": "GO:0008519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008519", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" }, { "name": "methylammonium channel activity", "id": "GO:0015264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015264", "evidence": [ { "database": "UniProtKB", "id": "P56404", "url": "https://www.uniprot.org/uniprotkb/P56404" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P56404-1", "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": "P56404", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P56404#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P56404-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Ile51", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IGC->NGC).", "chr_id": "7", "chr_pos": "123061933", "evidence": [ { "id": "rs3388947841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388947841" } ] } ] } ], "record_id": "P56404-1" }, { "uniprot_canonical_ac": "Q8BHH1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 271, "chemical_mass": 30481.0, "gene_names": "Aqp11;1700015P13Rik;Aqp11;sjds", "protein_name": "Aquaporin-11", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "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": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "glycoprotein biosynthetic process", "id": "GO:0009101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009101", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "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": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "intracellular water homeostasis", "id": "GO:0009992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009992", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "water transport", "id": "GO:0006833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006833", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "glycerol transmembrane transport", "id": "GO:0015793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015793", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "endosomal lumen acidification", "id": "GO:0048388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048388", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "proximal tubule development", "id": "GO:0072014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072014", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "intracellular oxygen homeostasis", "id": "GO:0032364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032364", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "negative regulation of ERAD pathway", "id": "GO:1904293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904293", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "negative regulation of response to endoplasmic reticulum stress", "id": "GO:1903573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903573", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "hydrogen peroxide transmembrane transport", "id": "GO:0080170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080170", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "channel activity", "id": "GO:0015267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015267", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "water channel activity", "id": "GO:0015250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015250", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "glycerol channel activity", "id": "GO:0015254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015254", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" }, { "name": "hydrogen peroxide channel activity", "id": "GO:0140070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140070", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BHH1-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Cys101", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect endoplasmic reticulum localization. Does not affect plama membrane localization. Reduces oligomerization. Impairs water permeability.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" }, { "database": "PubMed", "id": "21118806", "url": "https://glygen.org/publication/PubMed/21118806" } ] } ] }, { "uniprot_canonical_ac": "Q8BHH1-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Gly102", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Does not affect oligomerization formation.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" }, { "database": "PubMed", "id": "23486012", "url": "https://glygen.org/publication/PubMed/23486012" } ] } ] }, { "uniprot_canonical_ac": "Q8BHH1-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Cys227", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Homozygous sudden juvenile death syndrome (sjds) mice die before 20 day of age and exhibit severe proximal tubule injury and formation of giant vacuoles in the renal cortex. Interferes with maintenance of AQP11 oligomeric structure. Aqp11 mutant mice developed proximal tubule (PT)-specific mitochondrial injury. Heterozygous sudden juvenile death syndrome (sjds) mice exhibit higher AQP11 levels but are not further increased in response to glucose. Upon glucose treatment, heterozygous Aqp11 mice show increased blood urea nitrogen levels that are prevented by the antioxidant sulforaphane or by phlorizin.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" }, { "database": "PubMed", "id": "18701606", "url": "https://glygen.org/publication/PubMed/18701606" } ] } ] }, { "uniprot_canonical_ac": "Q8BHH1-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Asn99", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Reduces oligomerization.", "evidence": [ { "database": "UniProtKB", "id": "Q8BHH1", "url": "https://www.uniprot.org/uniprotkb/Q8BHH1" }, { "database": "PubMed", "id": "23486012", "url": "https://glygen.org/publication/PubMed/23486012" } ] } ] } ], "record_id": "Q8BHH1-1" }, { "uniprot_canonical_ac": "P34928-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 88, "chemical_mass": 9696.0, "gene_names": "Apoc1;Apo-CIB;ApoC-IB;Apoc1;apo-CI;apoC-I", "protein_name": "Apolipoprotein C-I", "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: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: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: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: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 lipid transport", "id": "GO:0032368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032368", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "phospholipid efflux", "id": "GO:0033700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033700", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "lipoprotein metabolic process", "id": "GO:0042157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042157", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "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": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "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": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "negative regulation of cholesterol transport", "id": "GO:0032375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032375", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "regulation of cholesterol transport", "id": "GO:0032374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032374", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "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": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "negative regulation of receptor-mediated endocytosis", "id": "GO:0048261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048261", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "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": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "chylomicron remnant clearance", "id": "GO:0034382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034382", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "negative regulation of lipid metabolic process", "id": "GO:0045833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045833", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "negative regulation of triglyceride catabolic process", "id": "GO:0010897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010897", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylcholine catabolic process", "id": "GO:0010900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010900", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "plasma lipoprotein particle remodeling", "id": "GO:0034369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034369", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" } ], "molecular_function": [ { "name": "fatty acid binding", "id": "GO:0005504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005504", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "lipase inhibitor activity", "id": "GO:0055102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055102", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "phospholipase inhibitor activity", "id": "GO:0004859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004859", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "high-density lipoprotein particle", "id": "GO:0034364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034364", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle", "id": "GO:0034361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034361", "evidence": [ { "database": "UniProtKB", "id": "P34928", "url": "https://www.uniprot.org/uniprotkb/P34928" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P34928-1" }, { "uniprot_canonical_ac": "O54984-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54984", "url": "https://www.uniprot.org/uniprotkb/O54984" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 348, "chemical_mass": 38823.0, "gene_names": "Get3;1810048H22Rik;ArsA;Arsa;Asna1;Get3", "protein_name": "ATPase GET3", "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 }, { "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 } ], "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": "O54984", "url": "https://www.uniprot.org/uniprotkb/O54984" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class I", "id": "GO:0019885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019885", "evidence": [ { "database": "UniProtKB", "id": "O54984", "url": "https://www.uniprot.org/uniprotkb/O54984" } ], "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": "O54984", "url": "https://www.uniprot.org/uniprotkb/O54984" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O54984", "url": "https://www.uniprot.org/uniprotkb/O54984" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O54984", "url": "https://www.uniprot.org/uniprotkb/O54984" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "O54984", "url": "https://www.uniprot.org/uniprotkb/O54984" } ], "pmid": "" }, { "name": "membrane insertase activity", "id": "GO:0032977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032977", "evidence": [ { "database": "UniProtKB", "id": "O54984", "url": "https://www.uniprot.org/uniprotkb/O54984" } ], "pmid": "" }, { "name": "protein carrier chaperone", "id": "GO:0140597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140597", "evidence": [ { "database": "UniProtKB", "id": "O54984", "url": "https://www.uniprot.org/uniprotkb/O54984" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O54984", "url": "https://www.uniprot.org/uniprotkb/O54984" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O54984", "url": "https://www.uniprot.org/uniprotkb/O54984" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O54984", "url": "https://www.uniprot.org/uniprotkb/O54984" } ], "pmid": "" }, { "name": "GET complex", "id": "GO:0043529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043529", "evidence": [ { "database": "UniProtKB", "id": "O54984", "url": "https://www.uniprot.org/uniprotkb/O54984" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O54984-1", "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": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "O54984", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O54984" }, { "id": "O54984", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O54984" } ] } ] }, { "uniprot_canonical_ac": "O54984-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Ile71", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IST->NST).", "chr_id": "8", "chr_pos": "85750904", "evidence": [ { "id": "rs3388973911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388973911" } ] } ] } ], "record_id": "O54984-1" }, { "uniprot_canonical_ac": "Q6P068-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6P068", "url": "https://www.uniprot.org/uniprotkb/Q6P068" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 179, "chemical_mass": 20059.0, "gene_names": "Arl5c;Arl12;Arl5c", "protein_name": "ADP-ribosylation factor-like protein 5C", "disease": [], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q6P068", "url": "https://www.uniprot.org/uniprotkb/Q6P068" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q6P068", "url": "https://www.uniprot.org/uniprotkb/Q6P068" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6P068", "url": "https://www.uniprot.org/uniprotkb/Q6P068" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6P068", "url": "https://www.uniprot.org/uniprotkb/Q6P068" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q6P068", "url": "https://www.uniprot.org/uniprotkb/Q6P068" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q6P068", "url": "https://www.uniprot.org/uniprotkb/Q6P068" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q6P068", "url": "https://www.uniprot.org/uniprotkb/Q6P068" } ], "pmid": "" }, { "name": "protein localization to Golgi membrane", "id": "GO:1903292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903292", "evidence": [ { "database": "UniProtKB", "id": "Q6P068", "url": "https://www.uniprot.org/uniprotkb/Q6P068" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6P068-1" }, { "uniprot_canonical_ac": "Q8BSL7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BSL7", "url": "https://www.uniprot.org/uniprotkb/Q8BSL7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 181, "chemical_mass": 20746.0, "gene_names": "Arf2;Arf2", "protein_name": "ADP-ribosylation factor 2", "disease": [], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q8BSL7", "url": "https://www.uniprot.org/uniprotkb/Q8BSL7" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q8BSL7", "url": "https://www.uniprot.org/uniprotkb/Q8BSL7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BSL7", "url": "https://www.uniprot.org/uniprotkb/Q8BSL7" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8BSL7", "url": "https://www.uniprot.org/uniprotkb/Q8BSL7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BSL7", "url": "https://www.uniprot.org/uniprotkb/Q8BSL7" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q8BSL7", "url": "https://www.uniprot.org/uniprotkb/Q8BSL7" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q8BSL7", "url": "https://www.uniprot.org/uniprotkb/Q8BSL7" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q8BSL7", "url": "https://www.uniprot.org/uniprotkb/Q8BSL7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BSL7-1" }, { "uniprot_canonical_ac": "A6PWV5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A6PWV5", "url": "https://www.uniprot.org/uniprotkb/A6PWV5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 409, "chemical_mass": 43633.0, "gene_names": "Arid3c;Arid3c", "protein_name": "AT-rich interactive domain-containing protein 3C", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "A6PWV5", "url": "https://www.uniprot.org/uniprotkb/A6PWV5" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "A6PWV5", "url": "https://www.uniprot.org/uniprotkb/A6PWV5" } ], "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": "A6PWV5", "url": "https://www.uniprot.org/uniprotkb/A6PWV5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A6PWV5", "url": "https://www.uniprot.org/uniprotkb/A6PWV5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A6PWV5", "url": "https://www.uniprot.org/uniprotkb/A6PWV5" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "A6PWV5", "url": "https://www.uniprot.org/uniprotkb/A6PWV5" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A6PWV5", "url": "https://www.uniprot.org/uniprotkb/A6PWV5" } ], "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": "A6PWV5", "url": "https://www.uniprot.org/uniprotkb/A6PWV5" } ], "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": "A6PWV5", "url": "https://www.uniprot.org/uniprotkb/A6PWV5" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "A6PWV5", "url": "https://www.uniprot.org/uniprotkb/A6PWV5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A6PWV5-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Thr238", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 238, "start_aa": "Thr", "end_pos": 238, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr238", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A6PWV5-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Thr254", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 254, "start_aa": "Thr", "end_pos": 254, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr254", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "A6PWV5-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Thr263", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 263, "start_aa": "Thr", "end_pos": 263, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr263", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "A6PWV5-1" }, { "uniprot_canonical_ac": "P61205-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P61205", "url": "https://www.uniprot.org/uniprotkb/P61205" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 181, "chemical_mass": 20601.0, "gene_names": "Arf3;5430400P17Rik;Arf3", "protein_name": "ADP-ribosylation factor 3", "disease": [], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P61205", "url": "https://www.uniprot.org/uniprotkb/P61205" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P61205", "url": "https://www.uniprot.org/uniprotkb/P61205" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P61205", "url": "https://www.uniprot.org/uniprotkb/P61205" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P61205", "url": "https://www.uniprot.org/uniprotkb/P61205" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P61205", "url": "https://www.uniprot.org/uniprotkb/P61205" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P61205", "url": "https://www.uniprot.org/uniprotkb/P61205" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P61205", "url": "https://www.uniprot.org/uniprotkb/P61205" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P61205", "url": "https://www.uniprot.org/uniprotkb/P61205" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "P61205", "url": "https://www.uniprot.org/uniprotkb/P61205" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P61205", "url": "https://www.uniprot.org/uniprotkb/P61205" } ], "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": "P61205", "url": "https://www.uniprot.org/uniprotkb/P61205" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P61205-1" }, { "uniprot_canonical_ac": "Q7TNS7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TNS7", "url": "https://www.uniprot.org/uniprotkb/Q7TNS7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 539, "chemical_mass": 59216.0, "gene_names": "Asic4;Accn4;Asic4;BNAC4", "protein_name": "Acid-sensing ion channel 4", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TNS7", "url": "https://www.uniprot.org/uniprotkb/Q7TNS7" } ], "pmid": "" } ], "biological_process": [ { "name": "behavioral fear response", "id": "GO:0001662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001662", "evidence": [ { "database": "UniProtKB", "id": "Q7TNS7", "url": "https://www.uniprot.org/uniprotkb/Q7TNS7" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "Q7TNS7", "url": "https://www.uniprot.org/uniprotkb/Q7TNS7" } ], "pmid": "" } ], "molecular_function": [ { "name": "sodium channel activity", "id": "GO:0005272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005272", "evidence": [ { "database": "UniProtKB", "id": "Q7TNS7", "url": "https://www.uniprot.org/uniprotkb/Q7TNS7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TNS7-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Asn138", "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": 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": "2102", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2102" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "HSALSDADIFHLANLTGLPPK", "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" } ] } ] }, { "uniprot_canonical_ac": "Q7TNS7-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Asn167", "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": "YPEPDMVDILNR", "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": "Q7TNS7-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Asn181", "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": "SCNFSGHHCSASNFSVVYTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 181, "start_aa": "Asn", "end_pos": 181, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn181", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q7TNS7-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Asn191", "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": "SCNFSGHHCSASNFSVVYTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 191, "start_aa": "Asn", "end_pos": 191, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn191", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 191, "start_aa": "Asn", "end_pos": 191, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn191", "evidence": [ { "id": "Q7TNS7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7TNS7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q7TNS7-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Asn243", "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": 243, "start_aa": "Asn", "end_pos": 243, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn243", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2102", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2102" } ] }, { "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": 243, "start_aa": "Asn", "end_pos": 243, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn243", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2102", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2102" } ] }, { "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": 243, "start_aa": "Asn", "end_pos": 243, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn243", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2102", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2102" } ] }, { "glytoucan_ac": "G83460ZZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ETNETSFEAGIR", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 243, "start_aa": "Asn", "end_pos": 243, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn243", "evidence": [ { "id": "Q7TNS7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7TNS7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q7TNS7-1", "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": "Q7TNS7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7TNS7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q7TNS7-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Thr373", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 373, "start_aa": "Thr", "end_pos": 373, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr373", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q7TNS7-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Asn376", "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": "TPCNLTR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 376, "start_aa": "Asn", "end_pos": 376, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn376", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 376, "start_aa": "Asn", "end_pos": 376, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn376", "evidence": [ { "id": "Q7TNS7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7TNS7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q7TNS7-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Asn405", "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": "KYNRNETYIR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 405, "start_aa": "Asn", "end_pos": 405, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn405", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "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": "Q7TNS7-1" }, { "uniprot_canonical_ac": "Q64362-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 292, "chemical_mass": 32942.0, "gene_names": "Aktip;AL023020;Aktip;Fif;Ft1;Fts;Ft", "protein_name": "AKT-interacting protein", "disease": [], "cellular_component": [ { "name": "HOPS complex", "id": "GO:0030897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030897", "evidence": [ { "database": "UniProtKB", "id": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "pmid": "" }, { "name": "FHF complex", "id": "GO:0070695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070695", "evidence": [ { "database": "UniProtKB", "id": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "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": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "pmid": "" }, { "name": "endosome organization", "id": "GO:0007032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007032", "evidence": [ { "database": "UniProtKB", "id": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "pmid": "" }, { "name": "endosome to lysosome transport", "id": "GO:0008333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008333", "evidence": [ { "database": "UniProtKB", "id": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "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": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "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": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "pmid": "" }, { "name": "DNA damage tolerance", "id": "GO:0006301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006301", "evidence": [ { "database": "UniProtKB", "id": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin conjugating enzyme activity", "id": "GO:0061631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061631", "evidence": [ { "database": "UniProtKB", "id": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q64362-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Ser30", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64362", "url": "https://www.uniprot.org/uniprotkb/Q64362" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q64362", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q64362" } ] } ] } ], "record_id": "Q64362-1" }, { "uniprot_canonical_ac": "P97384-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 503, "chemical_mass": 54079.0, "gene_names": "Anxa11;100039484;100039503;A830099O17Rik;Anx11;Anxa11;Gm2260;Gm2274", "protein_name": "Annexin A11", "disease": [ { "disease_id": "DOID:0080225", "name": "amyotrophic lateral sclerosis type 23", "description": "An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:0080225", "evidence": [ { "id": "0080225", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080225" } ], "weight": 0.0 }, { "disease_id": "DOID:0081121", "name": "inclusion body myopathy and brain white matter abnormalities", "description": "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:0081121", "evidence": [ { "id": "0081121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081121" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "specific granule", "id": "GO:0042581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042581", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "azurophil granule", "id": "GO:0042582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042582", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "vesicle membrane", "id": "GO:0012506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012506", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "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": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "calcium-dependent phospholipid binding", "id": "GO:0005544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005544", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "phosphatidylethanolamine binding", "id": "GO:0008429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008429", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "S100 protein binding", "id": "GO:0044548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044548", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" } ], "biological_process": [ { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" }, { "name": "cytokinetic process", "id": "GO:0032506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032506", "evidence": [ { "database": "UniProtKB", "id": "P97384", "url": "https://www.uniprot.org/uniprotkb/P97384" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P97384-1" }, { "uniprot_canonical_ac": "P61211-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 181, "chemical_mass": 20412.0, "gene_names": "Arl1;2310008D22Rik;Arl1", "protein_name": "ADP-ribosylation factor-like 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": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" }, { "name": "enzyme activator activity", "id": "GO:0008047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008047", "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" }, { "name": "phospholipase D activator activity", "id": "GO:1990583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990583", "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" }, { "name": "toxin metabolic process", "id": "GO:0009404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009404", "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" }, { "name": "retrograde transport, endosome to Golgi", "id": "GO:0042147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042147", "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" }, { "name": "protein localization to Golgi apparatus", "id": "GO:0034067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034067", "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" }, { "name": "Golgi vesicle transport", "id": "GO:0048193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048193", "evidence": [ { "database": "UniProtKB", "id": "P61211", "url": "https://www.uniprot.org/uniprotkb/P61211" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P61211-1" }, { "uniprot_canonical_ac": "E9Q7E2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1828, "chemical_mass": 195988.0, "gene_names": "Arid2;1700124K17Rik;4432409D24Rik;Arid2;BAF200;Baf200;zipzap/p200", "protein_name": "AT-rich interactive 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:0080297", "name": "Coffin-Siris syndrome 6", "description": "A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12.", "url": "https://disease-ontology.org/term/DOID:0080297", "evidence": [ { "id": "0080297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080297" } ], "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: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 } ], "biological_process": [ { "name": "circulatory system development", "id": "GO:0072359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072359", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "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": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "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": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "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": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "homeostatic process", "id": "GO:0042592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042592", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "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": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "nucleosome disassembly", "id": "GO:0006337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006337", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "cardiac muscle cell proliferation", "id": "GO:0060038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060038", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "coronary artery morphogenesis", "id": "GO:0060982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060982", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "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": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "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": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "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": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "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": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "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": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "SWI/SNF complex", "id": "GO:0016514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016514", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" }, { "name": "brahma complex", "id": "GO:0035060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035060", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "1002", "end_pos": "1002", "site_lbl": "Thr1002", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1002, "start_aa": "Thr", "end_pos": 1002, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1002", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "1375", "end_pos": "1375", "site_lbl": "Thr1375", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1375, "start_aa": "Thr", "end_pos": 1375, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1375", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "E9Q7E2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/E9Q7E2" } ] } ] }, { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "1376", "end_pos": "1376", "site_lbl": "Ser1376", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1376, "start_aa": "Ser", "end_pos": 1376, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1376", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "E9Q7E2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/E9Q7E2" } ] } ] }, { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "1434", "end_pos": "1434", "site_lbl": "Thr1434", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1434, "start_aa": "Thr", "end_pos": 1434, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1434", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "1489", "end_pos": "1489", "site_lbl": "Thr1489", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1489, "start_aa": "Thr", "end_pos": 1489, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1489", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Asn3", "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": "MANSTGKAPPDER", "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": "E9Q7E2-1", "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": "E9Q7E2-1", "start_pos": "653", "end_pos": "653", "site_lbl": "Thr653", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 653, "start_aa": "Thr", "end_pos": 653, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr653", "evidence": [ { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "E9Q7E2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q7E2" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ] } ] }, { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Ser659", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 659, "start_aa": "Ser", "end_pos": 659, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser659", "evidence": [ { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "E9Q7E2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q7E2" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "663", "end_pos": "663", "site_lbl": "Thr663", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 663, "start_aa": "Thr", "end_pos": 663, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr663", "evidence": [ { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "E9Q7E2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q7E2" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Thr665", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 665, "start_aa": "Thr", "end_pos": 665, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr665", "evidence": [ { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "E9Q7E2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q7E2" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "668", "end_pos": "668", "site_lbl": "Ser668", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 668, "start_aa": "Ser", "end_pos": 668, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser668", "evidence": [ { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "E9Q7E2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9Q7E2" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "1294", "end_pos": "1294", "site_lbl": "Ser1294", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ] } ] }, { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "1385", "end_pos": "1385", "site_lbl": "Ser1385", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ] } ] }, { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "1491", "end_pos": "1491", "site_lbl": "Ser1491", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ] } ] }, { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Ser4", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ] } ] }, { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "631", "end_pos": "631", "site_lbl": "Ser631", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ] } ] }, { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Ser635", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ] } ] }, { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "689", "end_pos": "689", "site_lbl": "Ser689", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ] } ] }, { "uniprot_canonical_ac": "E9Q7E2-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Thr692", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "E9Q7E2", "url": "https://www.uniprot.org/uniprotkb/E9Q7E2" } ] } ] } ], "record_id": "E9Q7E2-1" }, { "uniprot_canonical_ac": "P50428-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 506, "chemical_mass": 53748.0, "gene_names": "Arsa;AS-A;ASA;Arsa;As-2;As2;TISP73", "protein_name": "Arylsulfatase A", "disease": [ { "disease_id": "DOID:10581", "name": "metachromatic leukodystrophy", "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.", "url": "https://disease-ontology.org/term/DOID:10581", "evidence": [ { "id": "10581", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10581" } ], "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": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "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": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "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": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" }, { "name": "response to pH", "id": "GO:0009268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009268", "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" }, { "name": "response to methylmercury", "id": "GO:0051597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051597", "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" }, { "name": "arylsulfatase activity", "id": "GO:0004065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004065", "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" }, { "name": "cerebroside-sulfatase activity", "id": "GO:0004098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004098", "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" }, { "name": "sulfuric ester hydrolase activity", "id": "GO:0008484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008484", "evidence": [ { "database": "UniProtKB", "id": "P50428", "url": "https://www.uniprot.org/uniprotkb/P50428" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P50428-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Asn157", "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": 157, "start_aa": "Asn", "end_pos": 157, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn157", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2133", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2133" } ] }, { "glytoucan_ac": "G85061SD", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FLGIPYSHDQGPCQNLTCFPPDIPCK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 157, "start_aa": "Asn", "end_pos": 157, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn157", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 157, "start_aa": "Asn", "end_pos": 157, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn157", "evidence": [ { "id": "P50428", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P50428#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Asn183", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G95843QZ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GGCDQGLVPIPLLANLTVEAQPPWLPGLEAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 183, "start_aa": "Asn", "end_pos": 183, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn183", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 183, "start_aa": "Asn", "end_pos": 183, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn183", "evidence": [ { "id": "P50428", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P50428#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Thr322", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 322, "start_aa": "Thr", "end_pos": 322, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr322", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "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": "P50428", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P50428#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NVT->TVT); glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89358262", "evidence": [ { "id": "rs3389362917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389362917" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "429", "end_pos": "429", "site_lbl": "Asp429", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DLS->NLS); glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89357677", "evidence": [ { "id": "rs3389381248", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389381248" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Trp123", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89359412", "evidence": [ { "id": "rs3389383236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389383236" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Lys168", "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": "15", "chr_pos": "89359161", "evidence": [ { "id": "rs8254699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs8254699" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Leu196", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89359078", "evidence": [ { "id": "rs3389300621", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389300621" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Met208", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89359043", "evidence": [ { "id": "rs3389380266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389380266" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Ala209", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89359040", "evidence": [ { "id": "rs3412909765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412909765" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Gln231", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89358897", "evidence": [ { "id": "rs3389378748", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389378748" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Ser241", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89358866", "evidence": [ { "id": "rs3389398433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389398433" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Ala256", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89358821", "evidence": [ { "id": "rs3413026352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413026352" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Val257", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89358818", "evidence": [ { "id": "rs3389300589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389300589" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Thr263", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89358801", "evidence": [ { "id": "rs8254702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs8254702" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89358801", "evidence": [ { "id": "rs8254702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs8254702" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Ala279", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89358752", "evidence": [ { "id": "rs3389351735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389351735" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Ser289", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89358536", "evidence": [ { "id": "rs3389344905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389344905" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "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, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89359921", "evidence": [ { "id": "rs3406600494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406600494" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Phe305", "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": "15", "chr_pos": "89358488", "evidence": [ { "id": "rs3389383191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389383191" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Glu306", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89358485", "evidence": [ { "id": "rs3389373078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389373078" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Glu311", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89358470", "evidence": [ { "id": "rs3389392847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389392847" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Ala330", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89358320", "evidence": [ { "id": "rs3389392836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389392836" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Asp34", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89359824", "evidence": [ { "id": "rs3389383238", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389383238" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Asp356", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89358241", "evidence": [ { "id": "rs3389383276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389383276" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Pro376", "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": "15", "chr_pos": "89357946", "evidence": [ { "id": "rs3389392825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389392825" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Tyr38", "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": "15", "chr_pos": "89359813", "evidence": [ { "id": "rs3389381186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389381186" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "414", "end_pos": "414", "site_lbl": "His414", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89357721", "evidence": [ { "id": "rs3389376731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389376731" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "425", "end_pos": "425", "site_lbl": "Pro425", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89357688", "evidence": [ { "id": "rs864301428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864301428" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Pro434", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89357662", "evidence": [ { "id": "rs3389392830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389392830" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Ser448", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89357619", "evidence": [ { "id": "rs3389376418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389376418" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "449", "end_pos": "449", "site_lbl": "Pro449", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89357617", "evidence": [ { "id": "rs8254732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs8254732" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "483", "end_pos": "483", "site_lbl": "Ala483", "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": "15", "chr_pos": "89357514", "evidence": [ { "id": "rs3389385954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389385954" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Asp60", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89359748", "evidence": [ { "id": "rs3389300648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389300648" } ] } ] }, { "uniprot_canonical_ac": "P50428-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Val90", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/arylsulfatase.", "chr_id": "15", "chr_pos": "89359513", "evidence": [ { "id": "rs864296972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864296972" } ] } ] } ], "record_id": "P50428-1" }, { "uniprot_canonical_ac": "P18293-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1057, "chemical_mass": 119109.0, "gene_names": "Npr1;GC-A;NPR-A;NPRA;Npr1;Npra;Pndr", "protein_name": "Atrial natriuretic peptide receptor 1", "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: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 } ], "molecular_function": [ { "name": "guanylate cyclase activity", "id": "GO:0004383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004383", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" }, { "name": "hormone binding", "id": "GO:0042562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042562", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" }, { "name": "peptide hormone binding", "id": "GO:0017046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017046", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" }, { "name": "natriuretic peptide receptor activity", "id": "GO:0016941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016941", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" }, { "name": "peptide receptor activity", "id": "GO:0001653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001653", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" } ], "biological_process": [ { "name": "cGMP biosynthetic process", "id": "GO:0006182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006182", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" }, { "name": "blood vessel diameter maintenance", "id": "GO:0097746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097746", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" }, { "name": "regulation of vascular permeability", "id": "GO:0043114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043114", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" }, { "name": "receptor guanylyl cyclase signaling pathway", "id": "GO:0007168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007168", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" }, { "name": "dopamine metabolic process", "id": "GO:0042417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042417", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "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": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P18293-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Asn208", "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": "LNITVNHQEFVEGDPDHYTK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 208, "start_aa": "Asn", "end_pos": 208, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn208", "evidence": [ { "id": "P18293", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18293#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P18293-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Asn334", "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": "FNFTMEDGLK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 334, "start_aa": "Asn", "end_pos": 334, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn334", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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": 334, "start_aa": "Asn", "end_pos": 334, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn334", "evidence": [ { "id": "P18293", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18293#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P18293-1", "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": "P18293", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18293#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P18293-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Asn382", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 382, "start_aa": "Asn", "end_pos": 382, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn382", "evidence": [ { "id": "P18293", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18293#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P18293-1", "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": "P18293", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18293#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P18293-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Asn423", "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": "VVLNFNGTSQELMAVSEHR", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": 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": "P18293", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18293#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P18293-1", "start_pos": "622", "end_pos": "622", "site_lbl": "Asn622", "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": "GSLQDILENESITLDWMFR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 622, "start_aa": "Asn", "end_pos": 622, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn622", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "P18293-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Ser515", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ] } ] }, { "uniprot_canonical_ac": "P18293-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Ser525", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ] } ] }, { "uniprot_canonical_ac": "P18293-1", "start_pos": "528", "end_pos": "528", "site_lbl": "Thr528", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ] } ] }, { "uniprot_canonical_ac": "P18293-1", "start_pos": "530", "end_pos": "530", "site_lbl": "Ser530", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ] } ] }, { "uniprot_canonical_ac": "P18293-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Ser534", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ] } ] }, { "uniprot_canonical_ac": "P18293-1", "start_pos": "538", "end_pos": "538", "site_lbl": "Ser538", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ] } ] }, { "uniprot_canonical_ac": "P18293-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Thr541", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P18293", "url": "https://www.uniprot.org/uniprotkb/P18293" } ] } ] } ], "record_id": "P18293-1" }, { "uniprot_canonical_ac": "Q8BVF9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BVF9", "url": "https://www.uniprot.org/uniprotkb/Q8BVF9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 502, "chemical_mass": 55284.0, "gene_names": "Amz1;5330426I05;6530401C20Rik;Amz1", "protein_name": "Archaemetzincin-1", "disease": [], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q8BVF9", "url": "https://www.uniprot.org/uniprotkb/Q8BVF9" } ], "pmid": "" } ], "molecular_function": [ { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "Q8BVF9", "url": "https://www.uniprot.org/uniprotkb/Q8BVF9" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8BVF9", "url": "https://www.uniprot.org/uniprotkb/Q8BVF9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BVF9-1" }, { "uniprot_canonical_ac": "O54794-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 303, "chemical_mass": 32667.0, "gene_names": "Aqp7;AQP7L;AQPap;Aqp7", "protein_name": "Aquaporin-7", "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: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: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: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 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ], "pmid": "" } ], "biological_process": [ { "name": "water transport", "id": "GO:0006833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006833", "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ], "pmid": "" }, { "name": "glycerol transmembrane transport", "id": "GO:0015793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015793", "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ], "pmid": "" }, { "name": "urea transport", "id": "GO:0015840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015840", "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ], "pmid": "" }, { "name": "renal water absorption", "id": "GO:0070295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070295", "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ], "pmid": "" } ], "molecular_function": [ { "name": "water channel activity", "id": "GO:0015250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015250", "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ], "pmid": "" }, { "name": "glycerol channel activity", "id": "GO:0015254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015254", "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ], "pmid": "" }, { "name": "urea channel activity", "id": "GO:0015265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015265", "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ], "pmid": "" }, { "name": "urea transmembrane transporter activity", "id": "GO:0015204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015204", "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O54794-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ser5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O54794", "url": "https://www.uniprot.org/uniprotkb/O54794" } ] } ] } ], "record_id": "O54794-1" }, { "uniprot_canonical_ac": "O88879-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1249, "chemical_mass": 141003.0, "gene_names": "Apaf1;6230400I06Rik;Apaf-1;Apaf1l;Apaf1;fog;mKIAA0413", "protein_name": "Apoptotic protease-activating factor 1", "disease": [ { "disease_id": "DOID:0110052", "name": "amelogenesis imperfecta type 1B", "description": "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13.", "url": "https://disease-ontology.org/term/DOID:0110052", "evidence": [ { "id": "0110052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110052" } ], "weight": 0.0 }, { "disease_id": "DOID:0110056", "name": "amelogenesis imperfecta type 1C", "description": "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM).", "url": "https://disease-ontology.org/term/DOID:0110056", "evidence": [ { "id": "0110056", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110056" } ], "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: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: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: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: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: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 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "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": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "apoptosome", "id": "GO:0043293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043293", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" } ], "biological_process": [ { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "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": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "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": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "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": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "regulation of apoptotic DNA fragmentation", "id": "GO:1902510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902510", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "cardiac muscle cell apoptotic process", "id": "GO:0010659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010659", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "system development", "id": "GO:0048731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048731", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88879-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Arg265", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "No stimulation of CASP9 activity.", "evidence": [ { "database": "UniProtKB", "id": "O88879", "url": "https://www.uniprot.org/uniprotkb/O88879" }, { "database": "PubMed", "id": "21827944", "url": "https://glygen.org/publication/PubMed/21827944" } ] } ] } ], "record_id": "O88879-1" }, { "uniprot_canonical_ac": "P06728-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 395, "chemical_mass": 45029.0, "gene_names": "Apoa4;Apoa-4;Apoa4;apo-AIV;apoA-IV", "protein_name": "Apolipoprotein A-IV", "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: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:0061121", "name": "autosomal dominant tubulointerstitial kidney disease 6", "description": "An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0061121", "evidence": [ { "id": "0061121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061121" } ], "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: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: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: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: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:1389", "name": "polyneuropathy", "description": "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.", "url": "https://disease-ontology.org/term/DOID:1389", "evidence": [ { "id": "1389", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1389" } ], "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: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: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: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: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: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:705", "name": "Leber hereditary optic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:705", "evidence": [ { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" } ], "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: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: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: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: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: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": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "antioxidant activity", "id": "GO:0016209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016209", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "phosphatidylcholine binding", "id": "GO:0031210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031210", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "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": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "cholesterol transfer activity", "id": "GO:0120020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120020", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "high-density lipoprotein particle", "id": "GO:0034364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034364", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle", "id": "GO:0034361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034361", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "chylomicron", "id": "GO:0042627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042627", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "low-density lipoprotein particle", "id": "GO:0034362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034362", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "extracellular vesicle", "id": "GO:1903561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903561", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "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": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "phospholipid efflux", "id": "GO:0033700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033700", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "lipoprotein metabolic process", "id": "GO:0042157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042157", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "high-density lipoprotein particle remodeling", "id": "GO:0034375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034375", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "reverse cholesterol transport", "id": "GO:0043691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043691", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "leukocyte cell-cell adhesion", "id": "GO:0007159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007159", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "phosphatidylcholine metabolic process", "id": "GO:0046470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046470", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "peripheral nervous system axon regeneration", "id": "GO:0014012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014012", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "regulation of intestinal cholesterol absorption", "id": "GO:0030300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030300", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "chylomicron remodeling", "id": "GO:0034371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034371", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "chylomicron assembly", "id": "GO:0034378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034378", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "innate immune response in mucosa", "id": "GO:0002227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002227", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "response to lipid hydroperoxide", "id": "GO:0006982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006982", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "removal of superoxide radicals", "id": "GO:0019430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019430", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "regulation of cholesterol transport", "id": "GO:0032374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032374", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "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": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "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": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "response to stilbenoid", "id": "GO:0035634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035634", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "hydrogen peroxide catabolic process", "id": "GO:0042744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042744", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "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": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "acylglycerol homeostasis", "id": "GO:0055090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055090", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "protein-lipid complex assembly", "id": "GO:0065005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065005", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" }, { "name": "response to triglyceride", "id": "GO:0034014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034014", "evidence": [ { "database": "UniProtKB", "id": "P06728", "url": "https://www.uniprot.org/uniprotkb/P06728" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P06728-1" }, { "uniprot_canonical_ac": "P20443-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P20443", "url": "https://www.uniprot.org/uniprotkb/P20443" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 403, "chemical_mass": 44930.0, "gene_names": "Sag;A930001K18Rik;Arr1;Irbp;Sag;arrestin", "protein_name": "S-arrestin", "disease": [ { "disease_id": "DOID:0061104", "name": "retinitis pigmentosa 96", "description": "A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0061104", "evidence": [ { "id": "0061104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061104" } ], "weight": 0.0 }, { "disease_id": "DOID:0110369", "name": "retinitis pigmentosa 47", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110369", "evidence": [ { "id": "0110369", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110369" } ], "weight": 0.0 }, { "disease_id": "DOID:0110712", "name": "Oguchi disease-1", "description": "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110712", "evidence": [ { "id": "0110712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110712" } ], "weight": 0.0 }, { "disease_id": "DOID:8498", "name": "hereditary night blindness", "description": "", "url": "https://disease-ontology.org/term/DOID:8498", "evidence": [ { "id": "8498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8498" } ], "weight": 0.0 } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P20443", "url": "https://www.uniprot.org/uniprotkb/P20443" } ], "pmid": "" }, { "name": "sensory perception", "id": "GO:0007600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007600", "evidence": [ { "database": "UniProtKB", "id": "P20443", "url": "https://www.uniprot.org/uniprotkb/P20443" } ], "pmid": "" }, { "name": "G protein-coupled receptor internalization", "id": "GO:0002031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002031", "evidence": [ { "database": "UniProtKB", "id": "P20443", "url": "https://www.uniprot.org/uniprotkb/P20443" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P20443", "url": "https://www.uniprot.org/uniprotkb/P20443" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": "GO:0001917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "evidence": [ { "database": "UniProtKB", "id": "P20443", "url": "https://www.uniprot.org/uniprotkb/P20443" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "P20443", "url": "https://www.uniprot.org/uniprotkb/P20443" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "P20443", "url": "https://www.uniprot.org/uniprotkb/P20443" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "P20443", "url": "https://www.uniprot.org/uniprotkb/P20443" } ], "pmid": "" }, { "name": "spectrin binding", "id": "GO:0030507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030507", "evidence": [ { "database": "UniProtKB", "id": "P20443", "url": "https://www.uniprot.org/uniprotkb/P20443" } ], "pmid": "" }, { "name": "opsin binding", "id": "GO:0002046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002046", "evidence": [ { "database": "UniProtKB", "id": "P20443", "url": "https://www.uniprot.org/uniprotkb/P20443" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P20443-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Thr231", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P20443", "url": "https://www.uniprot.org/uniprotkb/P20443" } ] } ] }, { "uniprot_canonical_ac": "P20443-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Phe198", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Abrogates tetramerization, reduces dimerization, does not affect binding to microtubules and to phosphorylated light-activated rhodopsin; when associated with A-86, or with A-86 and V-349.", "evidence": [ { "database": "UniProtKB", "id": "P20443", "url": "https://www.uniprot.org/uniprotkb/P20443" }, { "database": "PubMed", "id": "21288033", "url": "https://glygen.org/publication/PubMed/21288033" } ] } ] }, { "uniprot_canonical_ac": "P20443-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Ala349", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Abrogates tetramerization, reduces dimerization, does not affect binding to microtubules and to phosphorylated light-activated rhodopsin; when associated with A-86 and A-198.", "evidence": [ { "database": "UniProtKB", "id": "P20443", "url": "https://www.uniprot.org/uniprotkb/P20443" }, { "database": "PubMed", "id": "21288033", "url": "https://glygen.org/publication/PubMed/21288033" } ] } ] }, { "uniprot_canonical_ac": "P20443-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Phe86", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Abrogates tetramerization, reduces dimerization, does not affect binding to microtubules and to phosphorylated light-activated rhodopsin; when associated with A-198, or with A-198 and V-349.", "evidence": [ { "database": "UniProtKB", "id": "P20443", "url": "https://www.uniprot.org/uniprotkb/P20443" }, { "database": "PubMed", "id": "21288033", "url": "https://glygen.org/publication/PubMed/21288033" } ] } ] } ], "record_id": "P20443-1" }, { "uniprot_canonical_ac": "P21570-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 145, "chemical_mass": 16228.0, "gene_names": "Ang;Ang1;Ang;Rnase5a;Rnase5", "protein_name": "Angiogenin", "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": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "response to yeast", "id": "GO:0001878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001878", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "antibacterial humoral response", "id": "GO:0019731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019731", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "antifungal humoral response", "id": "GO:0019732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019732", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "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": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "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": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "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": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "negative regulation of cellular senescence", "id": "GO:2000773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000773", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "rRNA transcription", "id": "GO:0009303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009303", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "actin filament polymerization", "id": "GO:0030041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030041", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "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": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "signaling", "id": "GO:0023052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023052", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "cellular response to stress", "id": "GO:0033554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033554", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "hematopoietic stem cell proliferation", "id": "GO:0071425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071425", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "cellular response to osmotic stress", "id": "GO:0071470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071470", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "tRNA stabilization", "id": "GO:0036416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036416", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "tRNA destabilization", "id": "GO:0036417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036417", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "endonuclease activity", "id": "GO:0004519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004519", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "RNA nuclease activity", "id": "GO:0004540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004540", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "ribosome binding", "id": "GO:0043022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043022", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "tRNA-specific ribonuclease activity", "id": "GO:0004549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004549", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "angiogenin-PRI complex", "id": "GO:0032311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032311", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "P21570", "url": "https://www.uniprot.org/uniprotkb/P21570" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P21570-1" }, { "uniprot_canonical_ac": "P31955-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 248, "chemical_mass": 27549.0, "gene_names": "Areg;AR;Areg;Mcub;Sdgf", "protein_name": "Amphiregulin", "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: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: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: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: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: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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "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": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "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": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "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": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "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": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "mammary gland alveolus development", "id": "GO:0060749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060749", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "glial cell proliferation", "id": "GO:0014009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014009", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis", "id": "GO:0060598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060598", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "mammary gland branching involved in thelarche", "id": "GO:0060744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060744", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "epithelial cell proliferation involved in mammary gland duct elongation", "id": "GO:0060750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060750", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "ERBB2-EGFR signaling pathway", "id": "GO:0038134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038134", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "epidermal growth factor receptor binding", "id": "GO:0005154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005154", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "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": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P31955", "url": "https://www.uniprot.org/uniprotkb/P31955" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P31955-1", "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": "P31955", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31955#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P31955-1", "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": "P31955", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P31955#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P31955-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Pro32", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDP->NDS).", "chr_id": "5", "chr_pos": "91288789", "evidence": [ { "id": "rs3388758841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388758841" } ] } ] } ], "record_id": "P31955-1" }, { "uniprot_canonical_ac": "P53762-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 791, "chemical_mass": 86963.0, "gene_names": "Arnt;Arnt;D3Ertd557e;Drnt;ESTM42;Hif1b;bHLHe2;mKIAA4051", "protein_name": "Aryl hydrocarbon receptor nuclear translocator", "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: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: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": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "aryl hydrocarbon receptor binding", "id": "GO:0017162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017162", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "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": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "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": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "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": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "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": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "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": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "aryl hydrocarbon receptor complex", "id": "GO:0034751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034751", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "nuclear aryl hydrocarbon receptor complex", "id": "GO:0034753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034753", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "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": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "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": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "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": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "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": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "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": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "positive regulation of protein sumoylation", "id": "GO:0033235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033235", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "embryonic placenta development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "positive regulation of hormone biosynthetic process", "id": "GO:0046886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046886", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "intestinal epithelial structure maintenance", "id": "GO:0060729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060729", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" }, { "name": "G1 to G0 transition", "id": "GO:0070314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070314", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P53762-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Thr567", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 567, "start_aa": "Thr", "end_pos": 567, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr567", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "P53762", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P53762" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P53762", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P53762" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "605", "end_pos": "605", "site_lbl": "Ser605", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 605, "start_aa": "Ser", "end_pos": 605, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser605", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "P53762", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P53762" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P53762", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P53762" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "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": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "P53762", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P53762" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P53762", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P53762" }, { "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": "P53762-1", "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": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "P53762", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P53762" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P53762", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P53762" }, { "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": "P53762-1", "start_pos": "618", "end_pos": "618", "site_lbl": "Ser618", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 618, "start_aa": "Ser", "end_pos": 618, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser618", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "P53762", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P53762" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P53762", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P53762" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->F).", "chr_id": "3", "chr_pos": "95398378", "evidence": [ { "id": "rs8252009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs8252009" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "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": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "P53762", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P53762" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P53762", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P53762" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "631", "end_pos": "631", "site_lbl": "Ser631", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 631, "start_aa": "Ser", "end_pos": 631, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser631", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "P53762", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P53762" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "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": "P53762", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P53762" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P53762", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P53762" }, { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "656", "end_pos": "656", "site_lbl": "Thr656", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 656, "start_aa": "Thr", "end_pos": 656, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr656", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "P53762", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P53762" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ser77", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P53762", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P53762" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Arg102", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "E", "comment": "Reduces DNA binding. Decreases transcription factor activity.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "28602820", "url": "https://glygen.org/publication/PubMed/28602820" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Leu112", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "Interferes with transcription factor activity.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "28602820", "url": "https://glygen.org/publication/PubMed/28602820" } ] }, { "sequence_org": "L", "sequence_mut": "E", "comment": "Impairs heterodimer formation with EPAS1. Impairs heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Compromise NPAS4:ARNT heterodimer stability. Compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Leu132", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "E", "comment": "Impairs heterodimer formation with EPAS1. Impairs heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Compromise NPAS4:ARNT heterodimer stability. Compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Val136", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Impairs heterodimer formation with EPAS1. Impairs heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Compromise NPAS4:ARNT heterodimer stability. Compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Met139", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "D", "comment": "Interferes with transcription factor activity.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "28602820", "url": "https://glygen.org/publication/PubMed/28602820" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Leu164", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "Does not affect transcription factor activity.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "28602820", "url": "https://glygen.org/publication/PubMed/28602820" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Leu167", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "E", "comment": "Highly reduces transcription activity. Impairs interaction with AHR. Impairs heterodimer formation with EPAS1. Impairs heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Compromise NPAS4:ARNT heterodimer stability. Compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" }, { "database": "PubMed", "id": "24001774", "url": "https://glygen.org/publication/PubMed/24001774" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Ile168", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "D", "comment": "Highly reduces transcription activity. Impairs interaction with AHR. Impairs heterodimer formation with EPAS1. Impairs heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Compromise NPAS4:ARNT heterodimer stability. Compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" }, { "database": "PubMed", "id": "24001774", "url": "https://glygen.org/publication/PubMed/24001774" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Ala171", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Reduces transcription activity. Markedly reduces interaction with AHR. Impairs heterodimer formation with EPAS1. Markedly decreases heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Compromise NPAS4:ARNT heterodimer stability. Compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" }, { "database": "PubMed", "id": "24001774", "url": "https://glygen.org/publication/PubMed/24001774" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Ile264", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "D", "comment": "Impairs heterodimer formation with EPAS1. Markedly decreases heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Does not compromise NPAS4:ARNT heterodimer stability. Does not compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Arg266", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Markedly decreases heterodimer formation with EPAS1. Decreases heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Does not compromise NPAS4:ARNT heterodimer stability. Does not compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Val305", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Markedly decreases heterodimer formation with EPAS1. Markedly decreases heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Does not compromise NPAS4:ARNT heterodimer stability. Does not compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "307", "end_pos": "307", "site_lbl": "His307", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Decreases heterodimer formation with EPAS1. Decreases heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Does not compromise NPAS4:ARNT heterodimer stability. Does not compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Arg366", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Markedly decreases heterodimer formation with EPAS1. Markedly decreases heterodimer formation with HIF1A. Impairs heterodimer formation with EPAS1; when associated with N-448. Impairs heterodimer formation with HIF1A; when associated with N-448. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Does not compromise NPAS4:ARNT heterodimer stability. Does not compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Asn448", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Decreases heterodimer formation with EPAS1. Decreases heterodimer formation with HIF1A. Impairs heterodimer formation with EPAS1; when associated with A-366. Impairs heterodimer formation with HIF1A; when associated with A-366. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Does not compromise NPAS4:ARNT heterodimer stability. Does not compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Tyr456", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "D", "comment": "Decreases heterodimer formation with EPAS1. Decreases heterodimer formation with HIF1A. Significantly destabilizes ARNT?s heterodimeric interactions with both NPAS1 and NPAS3. Compromises SIM1:ARNT heterodimer stability. Does not compromise NPAS4:ARNT heterodimer stability. Does not compromise AHR:ARNT heterodimer stability.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" }, { "database": "PubMed", "id": "27782878", "url": "https://glygen.org/publication/PubMed/27782878" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "94", "end_pos": "94", "site_lbl": "His94", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Reduces DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" } ] } ] }, { "uniprot_canonical_ac": "P53762-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Glu98", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "P53762", "url": "https://www.uniprot.org/uniprotkb/P53762" }, { "database": "PubMed", "id": "26245371", "url": "https://glygen.org/publication/PubMed/26245371" } ] } ] } ], "record_id": "P53762-1" }, { "uniprot_canonical_ac": "P56402-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 271, "chemical_mass": 28965.0, "gene_names": "Aqp2;AQP-CD;Aqp2;WCH-CD;cph;jpk", "protein_name": "Aquaporin-2", "disease": [ { "disease_id": "DOID:0081061", "name": "nephrogenic diabetes insipidus type 2", "description": "A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0081061", "evidence": [ { "id": "0081061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081061" } ], "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:12387", "name": "nephrogenic diabetes insipidus", "description": "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).", "url": "https://disease-ontology.org/term/DOID:12387", "evidence": [ { "id": "12387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12387" } ], "weight": 0.0 }, { "disease_id": "DOID:1837", "name": "diabetic ketoacidosis", "description": "A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus.", "url": "https://disease-ontology.org/term/DOID:1837", "evidence": [ { "id": "1837", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1837" } ], "weight": 0.0 }, { "disease_id": "DOID:9409", "name": "diabetes insipidus", "description": "A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration.", "url": "https://disease-ontology.org/term/DOID:9409", "evidence": [ { "id": "9409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9409" } ], "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": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "cell volume homeostasis", "id": "GO:0006884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006884", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "renal water transport", "id": "GO:0003097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003097", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "water transport", "id": "GO:0006833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006833", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "glycerol transmembrane transport", "id": "GO:0015793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015793", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "cellular response to water deprivation", "id": "GO:0042631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042631", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "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": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "cellular response to copper ion", "id": "GO:0071280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071280", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "cellular response to mercury ion", "id": "GO:0071288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071288", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "metanephric collecting duct development", "id": "GO:0072205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072205", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "actin filament depolymerization", "id": "GO:0030042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030042", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "water transmembrane transporter activity", "id": "GO:0005372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005372", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "glycerol transmembrane transporter activity", "id": "GO:0015168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015168", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "water channel activity", "id": "GO:0015250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015250", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "exocytic vesicle", "id": "GO:0070382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070382", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" }, { "name": "lumenal side of membrane", "id": "GO:0098576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098576", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P56402-1", "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": "P56402", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P56402#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P56402-1", "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": "P56402-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Ser256", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "16641094", "url": "https://glygen.org/publication/PubMed/16641094" }, { "database": "iPTMnet", "id": "P56402", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P56402" }, { "database": "PubMed", "id": "17229678", "url": "https://glygen.org/publication/PubMed/17229678" }, { "database": "PubMed", "id": "17475819", "url": "https://glygen.org/publication/PubMed/17475819" }, { "database": "PubMed", "id": "18606813", "url": "https://glygen.org/publication/PubMed/18606813" }, { "database": "PubMed", "id": "19357255", "url": "https://glygen.org/publication/PubMed/19357255" }, { "database": "PubMed", "id": "19367412", "url": "https://glygen.org/publication/PubMed/19367412" }, { "database": "PubMed", "id": "20864687", "url": "https://glygen.org/publication/PubMed/20864687" }, { "database": "PubMed", "id": "22212389", "url": "https://glygen.org/publication/PubMed/22212389" }, { "database": "PubMed", "id": "24652796", "url": "https://glygen.org/publication/PubMed/24652796" }, { "database": "PubMed", "id": "24700872", "url": "https://glygen.org/publication/PubMed/24700872" }, { "database": "PubMed", "id": "26310817", "url": "https://glygen.org/publication/PubMed/26310817" }, { "database": "PubMed", "id": "27694161", "url": "https://glygen.org/publication/PubMed/27694161" }, { "database": "PubMed", "id": "27892464", "url": "https://glygen.org/publication/PubMed/27892464" }, { "database": "PubMed", "id": "28228402", "url": "https://glygen.org/publication/PubMed/28228402" }, { "database": "PubMed", "id": "29354070", "url": "https://glygen.org/publication/PubMed/29354070" }, { "database": "PubMed", "id": "29718707", "url": "https://glygen.org/publication/PubMed/29718707" }, { "database": "PubMed", "id": "30797506", "url": "https://glygen.org/publication/PubMed/30797506" }, { "database": "PubMed", "id": "30901874", "url": "https://glygen.org/publication/PubMed/30901874" }, { "database": "PubMed", "id": "32164329", "url": "https://glygen.org/publication/PubMed/32164329" }, { "database": "PubMed", "id": "32340354", "url": "https://glygen.org/publication/PubMed/32340354" }, { "database": "PubMed", "id": "32929357", "url": "https://glygen.org/publication/PubMed/32929357" }, { "database": "PubMed", "id": "33332450", "url": "https://glygen.org/publication/PubMed/33332450" }, { "database": "PubMed", "id": "34978750", "url": "https://glygen.org/publication/PubMed/34978750" } ] } ] }, { "uniprot_canonical_ac": "P56402-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Ser261", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P56402", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P56402" }, { "database": "PubMed", "id": "21209006", "url": "https://glygen.org/publication/PubMed/21209006" }, { "database": "PubMed", "id": "24700872", "url": "https://glygen.org/publication/PubMed/24700872" }, { "database": "PubMed", "id": "26310817", "url": "https://glygen.org/publication/PubMed/26310817" }, { "database": "PubMed", "id": "27694161", "url": "https://glygen.org/publication/PubMed/27694161" }, { "database": "PubMed", "id": "27892464", "url": "https://glygen.org/publication/PubMed/27892464" }, { "database": "PubMed", "id": "29212817", "url": "https://glygen.org/publication/PubMed/29212817" }, { "database": "PubMed", "id": "32164329", "url": "https://glygen.org/publication/PubMed/32164329" } ] } ] }, { "uniprot_canonical_ac": "P56402-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ser269", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P56402", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P56402" }, { "database": "PubMed", "id": "18606813", "url": "https://glygen.org/publication/PubMed/18606813" }, { "database": "PubMed", "id": "20864687", "url": "https://glygen.org/publication/PubMed/20864687" }, { "database": "PubMed", "id": "27694161", "url": "https://glygen.org/publication/PubMed/27694161" }, { "database": "PubMed", "id": "27892464", "url": "https://glygen.org/publication/PubMed/27892464" }, { "database": "PubMed", "id": "32799672", "url": "https://glygen.org/publication/PubMed/32799672" } ] } ] }, { "uniprot_canonical_ac": "P56402-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Thr126", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Does not cause loss of water channel activity, but impairs trafficking from cytoplasmic vesicles to the cell membrane.", "evidence": [ { "database": "UniProtKB", "id": "P56402", "url": "https://www.uniprot.org/uniprotkb/P56402" }, { "database": "PubMed", "id": "10191086", "url": "https://glygen.org/publication/PubMed/10191086" } ] } ] } ], "record_id": "P56402-1" }, { "uniprot_canonical_ac": "Q05020-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 97, "chemical_mass": 10741.0, "gene_names": "Apoc2;Apoc2;apo-CII;apoC-II", "protein_name": "Apolipoprotein C-II", "disease": [ { "disease_id": "DOID:0111418", "name": "familial apolipoprotein C-II deficiency", "description": "A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32.", "url": "https://disease-ontology.org/term/DOID:0111418", "evidence": [ { "id": "0111418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111418" } ], "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:1390", "name": "hypobetalipoproteinemia", "description": "A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats.", "url": "https://disease-ontology.org/term/DOID:1390", "evidence": [ { "id": "1390", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1390" } ], "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: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: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 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "intermediate-density lipoprotein particle", "id": "GO:0034363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034363", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle", "id": "GO:0034361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034361", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "spherical high-density lipoprotein particle", "id": "GO:0034366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034366", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "chylomicron", "id": "GO:0042627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042627", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "low-density lipoprotein particle", "id": "GO:0034362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034362", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of triglyceride catabolic process", "id": "GO:0010898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010898", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "phospholipid efflux", "id": "GO:0033700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033700", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "lipoprotein transport", "id": "GO:0042953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042953", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "negative regulation of cholesterol transport", "id": "GO:0032375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032375", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "chylomicron remodeling", "id": "GO:0034371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034371", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "high-density lipoprotein particle clearance", "id": "GO:0034384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034384", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "positive regulation of very-low-density lipoprotein particle remodeling", "id": "GO:0010902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010902", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "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": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "negative regulation of receptor-mediated endocytosis", "id": "GO:0048261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048261", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "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": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "chylomicron remnant clearance", "id": "GO:0034382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034382", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "lipoprotein catabolic process", "id": "GO:0042159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042159", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "negative regulation of lipid metabolic process", "id": "GO:0045833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045833", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "positive regulation of phospholipid catabolic process", "id": "GO:0060697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060697", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "lipase inhibitor activity", "id": "GO:0055102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055102", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "lipoprotein lipase activator activity", "id": "GO:0060230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060230", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "phospholipase activator activity", "id": "GO:0016004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016004", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "phospholipase binding", "id": "GO:0043274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043274", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" }, { "name": "molecular function activator activity", "id": "GO:0140677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140677", "evidence": [ { "database": "UniProtKB", "id": "Q05020", "url": "https://www.uniprot.org/uniprotkb/Q05020" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q05020-1" }, { "uniprot_canonical_ac": "Q2TA57-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q2TA57", "url": "https://www.uniprot.org/uniprotkb/Q2TA57" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 360, "chemical_mass": 38266.0, "gene_names": "Asphd1;A830007L07Rik;Asphd1;Gm168", "protein_name": "Aspartate beta-hydroxylase domain-containing protein 1", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q2TA57", "url": "https://www.uniprot.org/uniprotkb/Q2TA57" } ], "pmid": "" } ], "molecular_function": [ { "name": "dioxygenase activity", "id": "GO:0051213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051213", "evidence": [ { "database": "UniProtKB", "id": "Q2TA57", "url": "https://www.uniprot.org/uniprotkb/Q2TA57" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q2TA57-1" }, { "uniprot_canonical_ac": "Q3TPE9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3TPE9", "url": "https://www.uniprot.org/uniprotkb/Q3TPE9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 440, "chemical_mass": 48774.0, "gene_names": "Ankmy2;Ankmy2;ZMYND20", "protein_name": "Ankyrin repeat and MYND domain-containing protein 2", "disease": [], "cellular_component": [ { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q3TPE9", "url": "https://www.uniprot.org/uniprotkb/Q3TPE9" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q3TPE9", "url": "https://www.uniprot.org/uniprotkb/Q3TPE9" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q3TPE9", "url": "https://www.uniprot.org/uniprotkb/Q3TPE9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3TPE9-1" }, { "uniprot_canonical_ac": "Q3U128-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U128", "url": "https://www.uniprot.org/uniprotkb/Q3U128" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 514, "chemical_mass": 58638.0, "gene_names": "Apcdd1;Apcdd1;Drapc1;EIG180", "protein_name": "Protein APCDD1", "disease": [ { "disease_id": "DOID:0110698", "name": "hypotrichosis 1", "description": "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22.", "url": "https://disease-ontology.org/term/DOID:0110698", "evidence": [ { "id": "0110698", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110698" } ], "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": "Q3U128", "url": "https://www.uniprot.org/uniprotkb/Q3U128" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q3U128", "url": "https://www.uniprot.org/uniprotkb/Q3U128" } ], "pmid": "" }, { "name": "Wnt-protein binding", "id": "GO:0017147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017147", "evidence": [ { "database": "UniProtKB", "id": "Q3U128", "url": "https://www.uniprot.org/uniprotkb/Q3U128" } ], "pmid": "" } ], "biological_process": [ { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q3U128", "url": "https://www.uniprot.org/uniprotkb/Q3U128" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "Q3U128", "url": "https://www.uniprot.org/uniprotkb/Q3U128" } ], "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": "Q3U128", "url": "https://www.uniprot.org/uniprotkb/Q3U128" } ], "pmid": "" }, { "name": "astrocyte cell migration", "id": "GO:0043615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043615", "evidence": [ { "database": "UniProtKB", "id": "Q3U128", "url": "https://www.uniprot.org/uniprotkb/Q3U128" } ], "pmid": "" }, { "name": "regulation of odontogenesis of dentin-containing tooth", "id": "GO:0042487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042487", "evidence": [ { "database": "UniProtKB", "id": "Q3U128", "url": "https://www.uniprot.org/uniprotkb/Q3U128" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3U128-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Asn100", "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": "FYNNNTFK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "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=8E0P&bu=0&command=select+.C:427;+center+selection;+zoom+selection" }, "start_pos": 100, "start_aa": "Asn", "end_pos": 100, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn100", "evidence": [ { "id": "Q3U128", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3U128#ptm_processing" }, { "id": "8E0P", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0P" }, { "id": "8E0P", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0P" }, { "id": "8E0R", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0R" }, { "id": "8E0R", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0R" }, { "id": "8E0W", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0W" }, { "id": "8E0W", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0W" }, { "id": "8E0P|C|427", "database": "", "url": "" }, { "id": "8E0P|D|427", "database": "", "url": "" }, { "id": "8E0P|B|427", "database": "", "url": "" }, { "id": "8E0P|A|427", "database": "", "url": "" }, { "id": "8E0R|B|100", "database": "", "url": "" }, { "id": "8E0R|A|100", "database": "", "url": "" }, { "id": "8E0W|B|100", "database": "", "url": "" }, { "id": "8E0W|A|100", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q3U128-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Asn168", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "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=8E0P&bu=0&command=select+.C:495;+center+selection;+zoom+selection" }, "start_pos": 168, "start_aa": "Asn", "end_pos": 168, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn168", "evidence": [ { "id": "Q3U128", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3U128#ptm_processing" }, { "id": "8E0P", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0P" }, { "id": "8E0P", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0P" }, { "id": "8E0R", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0R" }, { "id": "8E0R", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0R" }, { "id": "8E0W", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0W" }, { "id": "8E0W", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0W" }, { "id": "8E0P|C|495", "database": "", "url": "" }, { "id": "8E0P|D|495", "database": "", "url": "" }, { "id": "8E0P|B|495", "database": "", "url": "" }, { "id": "8E0P|A|495", "database": "", "url": "" }, { "id": "8E0R|A|168", "database": "", "url": "" }, { "id": "8E0W|B|168", "database": "", "url": "" }, { "id": "8E0W|A|168", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "Q3U128-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Asn319", "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=8E0P&bu=0&command=select+.C:646;+center+selection;+zoom+selection" }, "start_pos": 319, "start_aa": "Asn", "end_pos": 319, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn319", "evidence": [ { "id": "Q3U128", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3U128#ptm_processing" }, { "id": "8E0P", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0P" }, { "id": "8E0P", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0P" }, { "id": "8E0R", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0R" }, { "id": "8E0R", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0R" }, { "id": "8E0W", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0W" }, { "id": "8E0W", "database": "PDB", "url": "https://www.rcsb.org/structure/8E0W" }, { "id": "8E0P|C|646", "database": "", "url": "" }, { "id": "8E0P|D|646", "database": "", "url": "" }, { "id": "8E0P|B|646", "database": "", "url": "" }, { "id": "8E0P|A|646", "database": "", "url": "" }, { "id": "8E0R|B|319", "database": "", "url": "" }, { "id": "8E0R|A|319", "database": "", "url": "" }, { "id": "8E0W|B|319", "database": "", "url": "" }, { "id": "8E0W|A|319", "database": "", "url": "" } ] } ] } ], "record_id": "Q3U128-1" }, { "uniprot_canonical_ac": "Q3URY6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3URY6", "url": "https://www.uniprot.org/uniprotkb/Q3URY6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 854, "chemical_mass": 95311.0, "gene_names": "Armc2;2610018I05Rik;Armc2", "protein_name": "Armadillo repeat-containing protein 2", "disease": [ { "disease_id": "DOID:0111919", "name": "spermatogenic failure 38", "description": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC2 gene on chromosome 6q21.", "url": "https://disease-ontology.org/term/DOID:0111919", "evidence": [ { "id": "0111919", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111919" } ], "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 } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q3URY6", "url": "https://www.uniprot.org/uniprotkb/Q3URY6" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q3URY6", "url": "https://www.uniprot.org/uniprotkb/Q3URY6" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q3URY6", "url": "https://www.uniprot.org/uniprotkb/Q3URY6" } ], "pmid": "" }, { "name": "cilium organization", "id": "GO:0044782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044782", "evidence": [ { "database": "UniProtKB", "id": "Q3URY6", "url": "https://www.uniprot.org/uniprotkb/Q3URY6" } ], "pmid": "" }, { "name": "sperm axoneme assembly", "id": "GO:0007288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007288", "evidence": [ { "database": "UniProtKB", "id": "Q3URY6", "url": "https://www.uniprot.org/uniprotkb/Q3URY6" } ], "pmid": "" }, { "name": "nucleus organization", "id": "GO:0006997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006997", "evidence": [ { "database": "UniProtKB", "id": "Q3URY6", "url": "https://www.uniprot.org/uniprotkb/Q3URY6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3URY6-1" }, { "uniprot_canonical_ac": "Q400C8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q400C8", "url": "https://www.uniprot.org/uniprotkb/Q400C8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 359, "chemical_mass": 41341.0, "gene_names": "Amz2;Amz2;ESTM12", "protein_name": "Archaemetzincin-2", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q400C8", "url": "https://www.uniprot.org/uniprotkb/Q400C8" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q400C8", "url": "https://www.uniprot.org/uniprotkb/Q400C8" } ], "pmid": "" } ], "molecular_function": [ { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "Q400C8", "url": "https://www.uniprot.org/uniprotkb/Q400C8" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q400C8", "url": "https://www.uniprot.org/uniprotkb/Q400C8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q400C8-1" }, { "uniprot_canonical_ac": "Q61268-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61268", "url": "https://www.uniprot.org/uniprotkb/Q61268" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 124, "chemical_mass": 14288.0, "gene_names": "Apoc4;Acl;Apoc4;apo-CIV;apoC-IV", "protein_name": "Apolipoprotein C-IV", "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 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q61268", "url": "https://www.uniprot.org/uniprotkb/Q61268" } ], "pmid": "" }, { "name": "high-density lipoprotein particle", "id": "GO:0034364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034364", "evidence": [ { "database": "UniProtKB", "id": "Q61268", "url": "https://www.uniprot.org/uniprotkb/Q61268" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle", "id": "GO:0034361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034361", "evidence": [ { "database": "UniProtKB", "id": "Q61268", "url": "https://www.uniprot.org/uniprotkb/Q61268" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "Q61268", "url": "https://www.uniprot.org/uniprotkb/Q61268" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "Q61268", "url": "https://www.uniprot.org/uniprotkb/Q61268" } ], "pmid": "" }, { "name": "lipid storage", "id": "GO:0019915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019915", "evidence": [ { "database": "UniProtKB", "id": "Q61268", "url": "https://www.uniprot.org/uniprotkb/Q61268" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61268-1", "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": "Q61268", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61268#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61268-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Thr36", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 36, "start_aa": "Thr", "end_pos": 36, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr36", "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": "7", "chr_pos": "19412637", "evidence": [ { "id": "rs13472768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13472768" } ] } ] } ], "record_id": "Q61268-1" }, { "uniprot_canonical_ac": "Q640N2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 427, "chemical_mass": 48144.0, "gene_names": "Arl13b;A530097K21Rik;A930014M17Rik;Arl13b;Arl2l1;C530009C10Rik;hnn", "protein_name": "ADP-ribosylation factor-like protein 13B", "disease": [ { "disease_id": "DOID:0111003", "name": "Joubert syndrome 8", "description": "A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2.", "url": "https://disease-ontology.org/term/DOID:0111003", "evidence": [ { "id": "0111003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111003" } ], "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": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "non-motile cilium", "id": "GO:0097730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097730", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "ciliary membrane", "id": "GO:0060170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060170", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "9+0 non-motile cilium", "id": "GO:0097731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097731", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "ciliary shaft", "id": "GO:0097544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097544", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "GTP-dependent protein binding", "id": "GO:0030742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030742", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" } ], "biological_process": [ { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "left/right axis specification", "id": "GO:0070986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070986", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "neural tube patterning", "id": "GO:0021532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021532", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "interneuron migration from the subpallium to the cortex", "id": "GO:0021830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021830", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "formation of radial glial scaffolds", "id": "GO:0021943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021943", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" }, { "name": "receptor localization to non-motile cilium", "id": "GO:0097500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097500", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q640N2-1", "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" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->M).", "chr_id": "16", "chr_pos": "62623106", "evidence": [ { "id": "rs234161747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234161747" } ] } ] }, { "uniprot_canonical_ac": "Q640N2-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Thr52", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 52, "start_aa": "Thr", "end_pos": 52, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr52", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q640N2-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Ser328", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" }, { "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": "Q640N2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q640N2" } ] } ] }, { "uniprot_canonical_ac": "Q640N2-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Val358", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Abolishes localization to cilium.", "evidence": [ { "database": "UniProtKB", "id": "Q640N2", "url": "https://www.uniprot.org/uniprotkb/Q640N2" }, { "database": "PubMed", "id": "23153492", "url": "https://glygen.org/publication/PubMed/23153492" } ] } ] } ], "record_id": "Q640N2-1" }, { "uniprot_canonical_ac": "Q6P3A9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6P3A9", "url": "https://www.uniprot.org/uniprotkb/Q6P3A9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 176, "chemical_mass": 19212.0, "gene_names": "Arl11;ARLTS1;Arl11;C730007L20Rik", "protein_name": "ADP-ribosylation factor-like protein 11", "disease": [], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q6P3A9", "url": "https://www.uniprot.org/uniprotkb/Q6P3A9" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q6P3A9", "url": "https://www.uniprot.org/uniprotkb/Q6P3A9" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6P3A9", "url": "https://www.uniprot.org/uniprotkb/Q6P3A9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6P3A9", "url": "https://www.uniprot.org/uniprotkb/Q6P3A9" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q6P3A9", "url": "https://www.uniprot.org/uniprotkb/Q6P3A9" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q6P3A9", "url": "https://www.uniprot.org/uniprotkb/Q6P3A9" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "Q6P3A9", "url": "https://www.uniprot.org/uniprotkb/Q6P3A9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6P3A9-1" }, { "uniprot_canonical_ac": "Q75UR0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q75UR0", "url": "https://www.uniprot.org/uniprotkb/Q75UR0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 904, "chemical_mass": 106214.0, "gene_names": "Ano5;9330162L24;Ano5;Gdd1;Tmem16e", "protein_name": "Anoctamin-5", "disease": [ { "disease_id": "DOID:0070201", "name": "Miyoshi muscular dystrophy 3", "description": "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14.", "url": "https://disease-ontology.org/term/DOID:0070201", "evidence": [ { "id": "0070201", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070201" } ], "weight": 0.0 }, { "disease_id": "DOID:0110284", "name": "autosomal recessive limb-girdle muscular dystrophy type 2L", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14.", "url": "https://disease-ontology.org/term/DOID:0110284", "evidence": [ { "id": "0110284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110284" } ], "weight": 0.0 }, { "disease_id": "DOID:0111338", "name": "isolated elevated serum creatine phosphokinase levels", "description": "An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3.", "url": "https://disease-ontology.org/term/DOID:0111338", "evidence": [ { "id": "0111338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111338" } ], "weight": 0.0 }, { "disease_id": "DOID:0111533", "name": "gnathodiaphyseal dysplasia", "description": "An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3.", "url": "https://disease-ontology.org/term/DOID:0111533", "evidence": [ { "id": "0111533", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111533" } ], "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": "Q75UR0", "url": "https://www.uniprot.org/uniprotkb/Q75UR0" } ], "pmid": "" }, { "name": "phospholipid translocation", "id": "GO:0045332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045332", "evidence": [ { "database": "UniProtKB", "id": "Q75UR0", "url": "https://www.uniprot.org/uniprotkb/Q75UR0" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q75UR0", "url": "https://www.uniprot.org/uniprotkb/Q75UR0" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q75UR0", "url": "https://www.uniprot.org/uniprotkb/Q75UR0" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q75UR0", "url": "https://www.uniprot.org/uniprotkb/Q75UR0" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q75UR0", "url": "https://www.uniprot.org/uniprotkb/Q75UR0" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q75UR0", "url": "https://www.uniprot.org/uniprotkb/Q75UR0" } ], "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": "Q75UR0", "url": "https://www.uniprot.org/uniprotkb/Q75UR0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q75UR0-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Asn326", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 326, "start_aa": "Asn", "end_pos": 326, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn326", "evidence": [ { "id": "Q75UR0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q75UR0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q75UR0-1", "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": "Q75UR0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q75UR0#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTT->KTT).", "chr_id": "7", "chr_pos": "51216095", "evidence": [ { "id": "rs3388914029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388914029" } ] } ] }, { "uniprot_canonical_ac": "Q75UR0-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Asn371", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 371, "start_aa": "Asn", "end_pos": 371, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn371", "evidence": [ { "id": "Q75UR0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q75UR0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q75UR0-1", "start_pos": "759", "end_pos": "759", "site_lbl": "Asn759", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 759, "start_aa": "Asn", "end_pos": 759, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn759", "evidence": [ { "id": "Q75UR0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q75UR0#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NST->TST).", "chr_id": "7", "chr_pos": "51237453", "evidence": [ { "id": "rs3388914244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388914244" } ] } ] }, { "uniprot_canonical_ac": "Q75UR0-1", "start_pos": "769", "end_pos": "769", "site_lbl": "Asn769", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 769, "start_aa": "Asn", "end_pos": 769, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn769", "evidence": [ { "id": "Q75UR0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q75UR0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q75UR0-1", "start_pos": "782", "end_pos": "782", "site_lbl": "Asn782", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 782, "start_aa": "Asn", "end_pos": 782, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn782", "evidence": [ { "id": "Q75UR0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q75UR0#ptm_processing" } ] } ] } ], "record_id": "Q75UR0-1" }, { "uniprot_canonical_ac": "Q80ZU0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80ZU0", "url": "https://www.uniprot.org/uniprotkb/Q80ZU0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 179, "chemical_mass": 20724.0, "gene_names": "Arl5a;2410015N24Rik;2810410P22Rik;Arl5a;Arl5", "protein_name": "ADP-ribosylation factor-like protein 5A", "disease": [], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q80ZU0", "url": "https://www.uniprot.org/uniprotkb/Q80ZU0" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q80ZU0", "url": "https://www.uniprot.org/uniprotkb/Q80ZU0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q80ZU0", "url": "https://www.uniprot.org/uniprotkb/Q80ZU0" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q80ZU0", "url": "https://www.uniprot.org/uniprotkb/Q80ZU0" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q80ZU0", "url": "https://www.uniprot.org/uniprotkb/Q80ZU0" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q80ZU0", "url": "https://www.uniprot.org/uniprotkb/Q80ZU0" } ], "pmid": "" }, { "name": "protein localization to Golgi membrane", "id": "GO:1903292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903292", "evidence": [ { "database": "UniProtKB", "id": "Q80ZU0", "url": "https://www.uniprot.org/uniprotkb/Q80ZU0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q80ZU0-1" }, { "uniprot_canonical_ac": "Q810B6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1169, "chemical_mass": 128653.0, "gene_names": "Ankfy1;Ankfy1;Ankhzn;Kiaa1255;ZFYVE14;mKIAA1255", "protein_name": "Ankyrin repeat and FYVE domain-containing protein 1", "disease": [ { "disease_id": "DOID:0050946", "name": "Charlevoix-Saguenay spastic ataxia", "description": "An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12.", "url": "https://disease-ontology.org/term/DOID:0050946", "evidence": [ { "id": "0050946", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050946" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ], "pmid": "" }, { "name": "macropinosome", "id": "GO:0044354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044354", "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ], "pmid": "" }, { "name": "retromer complex", "id": "GO:0030904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030904", "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ], "pmid": "" }, { "name": "endosomal vesicle fusion", "id": "GO:0034058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034058", "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ], "pmid": "" }, { "name": "retrograde transport, endosome to Golgi", "id": "GO:0042147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042147", "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ], "pmid": "" }, { "name": "positive regulation of pinocytosis", "id": "GO:0048549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048549", "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ], "pmid": "" }, { "name": "Golgi to lysosome transport", "id": "GO:0090160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090160", "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ], "pmid": "" }, { "name": "phosphatidylinositol phosphate binding", "id": "GO:1901981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901981", "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q810B6-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Asn250", "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": "LNETDHNGDLALDLALSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 250, "start_aa": "Asn", "end_pos": 250, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn250", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q810B6-1", "start_pos": "616", "end_pos": "616", "site_lbl": "Asn616", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G46071XJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "DQTVLGLALWTGMHTIAAQLLGSGASINDTMSDGQTLLHMAIQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 616, "start_aa": "Asn", "end_pos": 616, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn616", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q810B6-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Ser270", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q810B6", "url": "https://www.uniprot.org/uniprotkb/Q810B6" } ] } ] } ], "record_id": "Q810B6-1" }, { "uniprot_canonical_ac": "Q8BH07-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BH07", "url": "https://www.uniprot.org/uniprotkb/Q8BH07" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 226, "chemical_mass": 24909.0, "gene_names": "Arl6ip6;2310057C01Rik;2610529A11Rik;Aip-6;Arl6ip6", "protein_name": "ADP-ribosylation factor-like protein 6-interacting protein 6", "disease": [], "cellular_component": [ { "name": "nuclear inner membrane", "id": "GO:0005637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005637", "evidence": [ { "database": "UniProtKB", "id": "Q8BH07", "url": "https://www.uniprot.org/uniprotkb/Q8BH07" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BH07-1", "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": "Q8BH07-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BH07", "url": "https://www.uniprot.org/uniprotkb/Q8BH07" } ] } ] }, { "uniprot_canonical_ac": "Q8BH07-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Ser36", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BH07", "url": "https://www.uniprot.org/uniprotkb/Q8BH07" } ] } ] }, { "uniprot_canonical_ac": "Q8BH07-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Ser60", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BH07", "url": "https://www.uniprot.org/uniprotkb/Q8BH07" } ] } ] }, { "uniprot_canonical_ac": "Q8BH07-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BH07", "url": "https://www.uniprot.org/uniprotkb/Q8BH07" } ] } ] }, { "uniprot_canonical_ac": "Q8BH07-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Ser80", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BH07", "url": "https://www.uniprot.org/uniprotkb/Q8BH07" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q8BH07", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BH07" } ] } ] } ], "record_id": "Q8BH07-1" }, { "uniprot_canonical_ac": "Q8BM75-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1188, "chemical_mass": 131837.0, "gene_names": "Arid5b;4930580B11;5430435G07Rik;Arid5b;Desrt;Mrf2alpha;Mrf2beta;Mrf2", "protein_name": "AT-rich interactive domain-containing protein 5B", "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": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "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": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "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": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "female gonad development", "id": "GO:0008585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "fibroblast migration", "id": "GO:0010761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010761", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "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": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "muscle organ morphogenesis", "id": "GO:0048644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048644", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "fat pad development", "id": "GO:0060613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060613", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" }, { "name": "catalytic complex", "id": "GO:1902494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902494", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BM75-1", "start_pos": "1108", "end_pos": "1108", "site_lbl": "Asn1108", "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": "LPAGYSHSLQYLKNQTVLSPLMQPLAFHSLVMQR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1108, "start_aa": "Asn", "end_pos": 1108, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1108", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8BM75-1", "start_pos": "518", "end_pos": "518", "site_lbl": "Asn518", "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": "ANETDQGSNSEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 518, "start_aa": "Asn", "end_pos": 518, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn518", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8BM75-1", "start_pos": "556", "end_pos": "556", "site_lbl": "Thr556", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 556, "start_aa": "Thr", "end_pos": 556, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr556", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BM75-1", "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": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8BM75", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BM75" }, { "id": "40997131", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40997131" }, { "id": "Q8BM75", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8BM75" } ] } ] }, { "uniprot_canonical_ac": "Q8BM75-1", "start_pos": "1032", "end_pos": "1032", "site_lbl": "Ser1032", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ] } ] }, { "uniprot_canonical_ac": "Q8BM75-1", "start_pos": "1133", "end_pos": "1133", "site_lbl": "Ser1133", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ] } ] }, { "uniprot_canonical_ac": "Q8BM75-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Ser264", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BM75", "url": "https://www.uniprot.org/uniprotkb/Q8BM75" } ] } ] }, { "uniprot_canonical_ac": "Q8BM75-1", "start_pos": "1056", "end_pos": "1056", "site_lbl": "Gly1056", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKG->NKS).", "chr_id": "10", "chr_pos": "67932735", "evidence": [ { "id": "rs29336984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29336984" } ] } ] }, { "uniprot_canonical_ac": "Q8BM75-1", "start_pos": "869", "end_pos": "869", "site_lbl": "Ala869", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGA->NGS).", "chr_id": "10", "chr_pos": "67933296", "evidence": [ { "id": "rs29708124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29708124" } ] }, { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "10", "chr_pos": "67933296", "evidence": [ { "id": "rs29708124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29708124" } ] } ] } ], "record_id": "Q8BM75-1" }, { "uniprot_canonical_ac": "Q8K3A9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 666, "chemical_mass": 72050.0, "gene_names": "Mepce;Bcdin3;Bipl1;D5Wsu46e;Mepce", "protein_name": "7SK snRNA methylphosphate capping enzyme", "disease": [], "biological_process": [ { "name": "positive regulation of protein localization to Cajal body", "id": "GO:1904871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904871", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "pmid": "" }, { "name": "positive regulation of snRNA transcription by RNA polymerase II", "id": "GO:1905382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905382", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "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": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "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": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "pmid": "" }, { "name": "RNA methylation", "id": "GO:0001510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001510", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "pmid": "" }, { "name": "snRNA metabolic process", "id": "GO:0016073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016073", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "pmid": "" }, { "name": "snRNA modification", "id": "GO:0040031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040031", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "pmid": "" }, { "name": "S-adenosylmethionine-dependent methyltransferase activity", "id": "GO:0008757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008757", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "pmid": "" }, { "name": "O-methyltransferase activity", "id": "GO:0008171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008171", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "pmid": "" }, { "name": "snRNA binding", "id": "GO:0017069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017069", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "pmid": "" }, { "name": "7SK snRNA binding", "id": "GO:0097322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097322", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "pmid": "" }, { "name": "RNA methyltransferase activity", "id": "GO:0008173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008173", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "pmid": "" }, { "name": "RNA 5'-gamma-phosphate methyltransferase activity", "id": "GO:1990276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990276", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "pmid": "" }, { "name": "7SK snRNP", "id": "GO:0120259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120259", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K3A9-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Asn645", "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": "PEQFSSYLTSPEVGFSSYELVATPNNTSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 645, "start_aa": "Asn", "end_pos": 645, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn645", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q8K3A9-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Ser126", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3A9-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Ser150", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3A9-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Ser154", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3A9-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Thr188", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" }, { "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": "Q8K3A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3A9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3A9-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3A9-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Ser192", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" }, { "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": "Q8K3A9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3A9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3A9-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Ser229", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3A9-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Thr268", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3A9-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Ser307", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3A9-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Ser321", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3A9-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Ser368", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3A9-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Ser57", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3A9", "url": "https://www.uniprot.org/uniprotkb/Q8K3A9" } ] } ] }, { "uniprot_canonical_ac": "Q8K3A9-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Ala260", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAA->NAS).", "chr_id": "5", "chr_pos": "137783547", "evidence": [ { "id": "rs242056786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242056786" } ] } ] } ], "record_id": "Q8K3A9-1" }, { "uniprot_canonical_ac": "P47879-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P47879", "url": "https://www.uniprot.org/uniprotkb/P47879" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 254, "chemical_mass": 27807.0, "gene_names": "Igfbp4;Deb2;IBP-4;IGFBP-4;Igfbp-4;Igfbp4", "protein_name": "Insulin-like growth factor-binding 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": "P47879", "url": "https://www.uniprot.org/uniprotkb/P47879" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P47879", "url": "https://www.uniprot.org/uniprotkb/P47879" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of growth", "id": "GO:0040008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040008", "evidence": [ { "database": "UniProtKB", "id": "P47879", "url": "https://www.uniprot.org/uniprotkb/P47879" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P47879", "url": "https://www.uniprot.org/uniprotkb/P47879" } ], "pmid": "" }, { "name": "regulation of glucose metabolic process", "id": "GO:0010906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010906", "evidence": [ { "database": "UniProtKB", "id": "P47879", "url": "https://www.uniprot.org/uniprotkb/P47879" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "P47879", "url": "https://www.uniprot.org/uniprotkb/P47879" } ], "pmid": "" }, { "name": "positive regulation of insulin-like growth factor receptor signaling pathway", "id": "GO:0043568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043568", "evidence": [ { "database": "UniProtKB", "id": "P47879", "url": "https://www.uniprot.org/uniprotkb/P47879" } ], "pmid": "" }, { "name": "type B pancreatic cell proliferation", "id": "GO:0044342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044342", "evidence": [ { "database": "UniProtKB", "id": "P47879", "url": "https://www.uniprot.org/uniprotkb/P47879" } ], "pmid": "" }, { "name": "regulation of insulin-like growth factor receptor signaling pathway", "id": "GO:0043567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043567", "evidence": [ { "database": "UniProtKB", "id": "P47879", "url": "https://www.uniprot.org/uniprotkb/P47879" } ], "pmid": "" } ], "molecular_function": [ { "name": "insulin-like growth factor binding", "id": "GO:0005520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005520", "evidence": [ { "database": "UniProtKB", "id": "P47879", "url": "https://www.uniprot.org/uniprotkb/P47879" } ], "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": "P47879", "url": "https://www.uniprot.org/uniprotkb/P47879" } ], "pmid": "" }, { "name": "insulin-like growth factor II binding", "id": "GO:0031995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031995", "evidence": [ { "database": "UniProtKB", "id": "P47879", "url": "https://www.uniprot.org/uniprotkb/P47879" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P47879-1", "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": "P47879", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P47879#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P47879-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Ser251", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P47879", "url": "https://www.uniprot.org/uniprotkb/P47879" } ] } ] } ], "record_id": "P47879-1" }, { "uniprot_canonical_ac": "Q9JIP4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 426, "chemical_mass": 48167.0, "gene_names": "Panx1;Panx1", "protein_name": "Pannexin-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: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 } ], "biological_process": [ { "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": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "monoatomic anion transmembrane transport", "id": "GO:0098656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098656", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "monoatomic cation transport", "id": "GO:0006812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006812", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "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": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "response to ATP", "id": "GO:0033198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033198", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "ATP transport", "id": "GO:0015867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015867", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "monoatomic anion channel activity", "id": "GO:0005253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005253", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "wide pore channel activity", "id": "GO:0022829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022829", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "ATP transmembrane transporter activity", "id": "GO:0005347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005347", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "gap junction channel activity", "id": "GO:0005243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005243", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "leak channel activity", "id": "GO:0022840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022840", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "bleb", "id": "GO:0032059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032059", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "gap junction", "id": "GO:0005921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005921", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JIP4-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Asn254", "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": "NDSTIPDRFQCK", "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" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 254, "start_aa": "Asn", "end_pos": 254, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn254", "evidence": [ { "id": "Q9JIP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4#ptm_processing" }, { "id": "17925379", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17925379" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "Impairs glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" }, { "database": "PubMed", "id": "17925379", "url": "https://glygen.org/publication/PubMed/17925379" } ] } ] }, { "uniprot_canonical_ac": "Q9JIP4-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Tyr198", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" }, { "database": "PubMed", "id": "30814251", "url": "https://glygen.org/publication/PubMed/30814251" }, { "database": "iPTMnet", "id": "Q9JIP4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIP4" }, { "database": "PubMed", "id": "26242575", "url": "https://glygen.org/publication/PubMed/26242575" }, { "database": "PubMed", "id": "35563450", "url": "https://glygen.org/publication/PubMed/35563450" } ] } ] }, { "uniprot_canonical_ac": "Q9JIP4-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Tyr308", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q9JIP4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIP4" }, { "database": "PubMed", "id": "35563450", "url": "https://glygen.org/publication/PubMed/35563450" } ] } ] }, { "uniprot_canonical_ac": "Q9JIP4-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Pro424", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "9", "chr_pos": "14917445", "evidence": [ { "id": "rs249266579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249266579" } ] } ] }, { "uniprot_canonical_ac": "Q9JIP4-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Cys346", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes S-nitrosylation; when associated with Ala-40.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" }, { "database": "PubMed", "id": "23033481", "url": "https://glygen.org/publication/PubMed/23033481" } ] } ] }, { "uniprot_canonical_ac": "Q9JIP4-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Cys40", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes S-nitrosylation; when associated with Ala-346.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" }, { "database": "PubMed", "id": "23033481", "url": "https://glygen.org/publication/PubMed/23033481" } ] } ] }, { "uniprot_canonical_ac": "Q9JIP4-1", "start_pos": "426", "end_pos": "426", "site_lbl": "Cys426", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on S-nitrosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIP4", "url": "https://www.uniprot.org/uniprotkb/Q9JIP4" }, { "database": "PubMed", "id": "23033481", "url": "https://glygen.org/publication/PubMed/23033481" } ] } ] } ], "record_id": "Q9JIP4-1" }, { "uniprot_canonical_ac": "Q8R3U1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 162, "chemical_mass": 17872.0, "gene_names": "Plaat3;AdPLA;H-rev107;HRSL3;Hrasls3;Hrev107;MLP-3;Pla2g16;Plaat3", "protein_name": "Phospholipase A and acyltransferase 3", "disease": [ { "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": "organelle disassembly", "id": "GO:1903008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903008", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "peroxisome organization", "id": "GO:0007031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007031", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "ether lipid metabolic process", "id": "GO:0046485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046485", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "phospholipid metabolic process", "id": "GO:0006644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006644", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "phospholipid biosynthetic process", "id": "GO:0008654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008654", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "lens fiber cell differentiation", "id": "GO:0070306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070306", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "regulation of adipose tissue development", "id": "GO:1904177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904177", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "N-acylphosphatidylethanolamine metabolic process", "id": "GO:0070292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070292", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "membrane disassembly", "id": "GO:0030397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030397", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipase activity", "id": "GO:0004620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004620", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "phospholipase A2 activity", "id": "GO:0004623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004623", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "phospholipase A1 activity", "id": "GO:0008970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008970", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "N-acyltransferase activity", "id": "GO:0016410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016410", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" }, { "name": "transferase activity", "id": "GO:0016740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R3U1-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Asn112", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Abolishes enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" }, { "database": "PubMed", "id": "18614531", "url": "https://glygen.org/publication/PubMed/18614531" } ] }, { "sequence_org": "N", "sequence_mut": "Q", "comment": "Abolishes enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" }, { "database": "PubMed", "id": "18614531", "url": "https://glygen.org/publication/PubMed/18614531" } ] } ] }, { "uniprot_canonical_ac": "Q8R3U1-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Cys113", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" }, { "database": "PubMed", "id": "18614531", "url": "https://glygen.org/publication/PubMed/18614531" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of phospholipase activity and loss of organelle membrane rupture.", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" }, { "database": "PubMed", "id": "33854238", "url": "https://glygen.org/publication/PubMed/33854238" }, { "database": "PubMed", "id": "18614531", "url": "https://glygen.org/publication/PubMed/18614531" } ] } ] }, { "uniprot_canonical_ac": "Q8R3U1-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Gln129", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Abolishes enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" }, { "database": "PubMed", "id": "18614531", "url": "https://glygen.org/publication/PubMed/18614531" } ] } ] }, { "uniprot_canonical_ac": "Q8R3U1-1", "start_pos": "23", "end_pos": "23", "site_lbl": "His23", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Abolishes enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" }, { "database": "PubMed", "id": "22134920", "url": "https://glygen.org/publication/PubMed/22134920" }, { "database": "PubMed", "id": "18614531", "url": "https://glygen.org/publication/PubMed/18614531" } ] }, { "sequence_org": "H", "sequence_mut": "Q", "comment": "Abolishes enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8R3U1", "url": "https://www.uniprot.org/uniprotkb/Q8R3U1" }, { "database": "PubMed", "id": "22134920", "url": "https://glygen.org/publication/PubMed/22134920" }, { "database": "PubMed", "id": "18614531", "url": "https://glygen.org/publication/PubMed/18614531" } ] } ] } ], "record_id": "Q8R3U1-1" }, { "uniprot_canonical_ac": "P63001-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 192, "chemical_mass": 21450.0, "gene_names": "Rac1;D5Ertd559e;Rac1", "protein_name": "Ras-related C3 botulinum toxin substrate 1", "disease": [ { "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:0080235", "name": "autosomal dominant intellectual developmental disorder 48", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22.", "url": "https://disease-ontology.org/term/DOID:0080235", "evidence": [ { "id": "0080235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080235" } ], "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: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: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:3495", "name": "extrahepatic bile duct adenocarcinoma", "description": "An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3495", "evidence": [ { "id": "3495", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3495" } ], "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: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: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:4948", "name": "gallbladder carcinoma", "description": "A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4948", "evidence": [ { "id": "4948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4948" } ], "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: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: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": "negative regulation of fibroblast migration", "id": "GO:0010764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010764", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of fibroblast migration", "id": "GO:0010762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010762", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cerebral cortex radially oriented cell migration", "id": "GO:0021799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021799", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046425", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cerebral cortex GABAergic interneuron development", "id": "GO:0021894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021894", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "Rac protein signal transduction", "id": "GO:0016601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016601", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "lamellipodium assembly", "id": "GO:0030032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030032", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "substrate adhesion-dependent cell spreading", "id": "GO:0034446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034446", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "angiotensin-activated signaling pathway", "id": "GO:0038166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038166", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "bone resorption", "id": "GO:0045453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045453", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton organization", "id": "GO:0098974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098974", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "actin filament polymerization", "id": "GO:0030041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030041", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of stress fiber assembly", "id": "GO:0051492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051492", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "epithelial cell morphogenesis", "id": "GO:0003382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003382", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of cell morphogenesis", "id": "GO:0022604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022604", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "engulfment of apoptotic cell", "id": "GO:0043652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043652", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "positive regulation of microtubule polymerization", "id": "GO:0031116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031116", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "ruffle assembly", "id": "GO:0097178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097178", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "positive regulation of DNA replication", "id": "GO:0045740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045740", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of neuronal synaptic plasticity", "id": "GO:0048168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048168", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "embryonic olfactory bulb interneuron precursor migration", "id": "GO:0021831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021831", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "auditory receptor cell morphogenesis", "id": "GO:0002093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002093", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "hepatocyte growth factor receptor signaling pathway", "id": "GO:0048012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048012", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cortical cytoskeleton organization", "id": "GO:0030865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030865", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "non-canonical Wnt signaling pathway", "id": "GO:0035567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035567", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of neutrophil migration", "id": "GO:1902622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902622", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of lamellipodium assembly", "id": "GO:0010591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010591", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "positive regulation of neutrophil chemotaxis", "id": "GO:0090023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090023", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle endocytosis", "id": "GO:1900242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900242", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of cell adhesion involved in heart morphogenesis", "id": "GO:0061344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061344", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "mast cell chemotaxis", "id": "GO:0002551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002551", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "positive regulation of ruffle assembly", "id": "GO:1900029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900029", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "localization within membrane", "id": "GO:0051668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051668", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "synaptic transmission, GABAergic", "id": "GO:0051932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051932", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "midbrain dopaminergic neuron differentiation", "id": "GO:1904948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904948", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cochlea morphogenesis", "id": "GO:0090103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090103", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of neuron maturation", "id": "GO:0014041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014041", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "superoxide anion generation", "id": "GO:0042554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042554", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "hyperosmotic response", "id": "GO:0006972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006972", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cell projection assembly", "id": "GO:0030031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030031", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of respiratory burst", "id": "GO:0060263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060263", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "anatomical structure arrangement", "id": "GO:0048532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048532", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "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": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of ERK5 cascade", "id": "GO:0070376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070376", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "regulation of postsynapse assembly", "id": "GO:0150052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150052", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "erythrocyte enucleation", "id": "GO:0043131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043131", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" } ], "cellular_component": [ { "name": "NADPH oxidase complex", "id": "GO:0043020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043020", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "phagocytic cup", "id": "GO:0001891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001891", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "kinocilium", "id": "GO:0060091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060091", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "pericentriolar material", "id": "GO:0000242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000242", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "thioesterase binding", "id": "GO:0031996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031996", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "GTP-dependent protein binding", "id": "GO:0030742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030742", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "Rho GDP-dissociation inhibitor binding", "id": "GO:0051022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051022", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P63001-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Ser71", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" }, { "database": "iPTMnet", "id": "P63001", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P63001" }, { "database": "PubMed", "id": "23512198", "url": "https://glygen.org/publication/PubMed/23512198" }, { "database": "PubMed", "id": "26663135", "url": "https://glygen.org/publication/PubMed/26663135" }, { "database": "PubMed", "id": "31068775", "url": "https://glygen.org/publication/PubMed/31068775" }, { "database": "PubMed", "id": "33250856", "url": "https://glygen.org/publication/PubMed/33250856" } ] } ] }, { "uniprot_canonical_ac": "P63001-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Gly12", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Constitutively active. Interacts with PARD6 proteins.", "evidence": [ { "database": "UniProtKB", "id": "P63001", "url": "https://www.uniprot.org/uniprotkb/P63001" }, { "database": "PubMed", "id": "10934474", "url": "https://glygen.org/publication/PubMed/10934474" } ] } ] } ], "record_id": "P63001-1" }, { "uniprot_canonical_ac": "Q9WVM6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WVM6", "url": "https://www.uniprot.org/uniprotkb/Q9WVM6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1012, "chemical_mass": 113252.0, "gene_names": "Tll2;Tll2", "protein_name": "Tolloid-like protein 2", "disease": [], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM6", "url": "https://www.uniprot.org/uniprotkb/Q9WVM6" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM6", "url": "https://www.uniprot.org/uniprotkb/Q9WVM6" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM6", "url": "https://www.uniprot.org/uniprotkb/Q9WVM6" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM6", "url": "https://www.uniprot.org/uniprotkb/Q9WVM6" } ], "pmid": "" } ], "biological_process": [ { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM6", "url": "https://www.uniprot.org/uniprotkb/Q9WVM6" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM6", "url": "https://www.uniprot.org/uniprotkb/Q9WVM6" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM6", "url": "https://www.uniprot.org/uniprotkb/Q9WVM6" } ], "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": "Q9WVM6", "url": "https://www.uniprot.org/uniprotkb/Q9WVM6" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9WVM6", "url": "https://www.uniprot.org/uniprotkb/Q9WVM6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WVM6-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Asn134", "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": "DATTFLPNPGTSNTTAK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 134, "start_aa": "Asn", "end_pos": 134, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn134", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q9WVM6-1", "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": "Q9WVM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WVM6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WVM6-1", "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": "Q9WVM6-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Asn358", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 358, "start_aa": "Asn", "end_pos": 358, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn358", "evidence": [ { "id": "Q9WVM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WVM6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WVM6-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Thr381", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 381, "start_aa": "Thr", "end_pos": 381, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr381", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9WVM6-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Asn389", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q9WVM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WVM6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WVM6-1", "start_pos": "625", "end_pos": "625", "site_lbl": "Asn625", "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": "LNGTITSPGWPK", "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": "Q9WVM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WVM6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WVM6-1", "start_pos": "802", "end_pos": "802", "site_lbl": "Asn802", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 802, "start_aa": "Asn", "end_pos": 802, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn802", "evidence": [ { "id": "Q9WVM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9WVM6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9WVM6-1", "start_pos": "564", "end_pos": "564", "site_lbl": "Ala564", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKA->NKT).", "chr_id": "19", "chr_pos": "41092146", "evidence": [ { "id": "rs3389447579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389447579" } ] } ] } ], "record_id": "Q9WVM6-1" }, { "uniprot_canonical_ac": "P27467-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 352, "chemical_mass": 39258.0, "gene_names": "Wnt3a;Wnt-3a;Wnt3a;vt", "protein_name": "Protein Wnt-3a", "disease": [ { "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: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 } ], "biological_process": [ { "name": "positive regulation of hepatocyte proliferation", "id": "GO:2000347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000347", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "regulation of axonogenesis", "id": "GO:0050770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050770", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "paraxial mesodermal cell fate commitment", "id": "GO:0048343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048343", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "regulation of RNA biosynthetic process", "id": "GO:2001141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001141", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "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": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "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": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "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": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "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": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "platelet activation", "id": "GO:0030168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030168", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "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": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "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": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "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": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "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": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "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": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "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": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "platelet aggregation", "id": "GO:0070527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070527", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "cardiac muscle cell fate commitment", "id": "GO:0060923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060923", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "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": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "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": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "positive regulation of receptor internalization", "id": "GO:0002092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002092", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "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": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "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": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "negative regulation of neurogenesis", "id": "GO:0050768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050768", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "somatic stem cell division", "id": "GO:0048103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048103", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "spinal cord association neuron differentiation", "id": "GO:0021527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021527", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "cell proliferation in forebrain", "id": "GO:0021846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021846", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "COP9 signalosome assembly", "id": "GO:0010387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010387", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "cell proliferation in midbrain", "id": "GO:0033278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033278", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "non-canonical Wnt signaling pathway", "id": "GO:0035567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035567", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "dorsal/ventral neural tube patterning", "id": "GO:0021904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021904", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "regulation of synapse organization", "id": "GO:0050807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050807", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "negative regulation of axon extension involved in axon guidance", "id": "GO:0048843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048843", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "post-anal tail morphogenesis", "id": "GO:0036342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036342", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "axis elongation involved in somitogenesis", "id": "GO:0090245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090245", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "secondary palate development", "id": "GO:0062009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062009", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "negative regulation of dopaminergic neuron differentiation", "id": "GO:1904339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904339", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "regulation of presynapse assembly", "id": "GO:1905606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905606", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "positive regulation of mesodermal cell fate specification", "id": "GO:0048337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048337", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "positive regulation of collateral sprouting in absence of injury", "id": "GO:0048697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048697", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "positive regulation of dermatome development", "id": "GO:0061184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061184", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport via low voltage-gated calcium channel", "id": "GO:0090676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090676", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "regulation of postsynapse to nucleus signaling pathway", "id": "GO:1905539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905539", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "Wnt signalosome", "id": "GO:1990909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990909", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "Wnt-Frizzled-LRP5/6 complex", "id": "GO:1990851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990851", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "frizzled binding", "id": "GO:0005109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005109", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" }, { "name": "co-receptor binding", "id": "GO:0039706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039706", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P27467-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Asn298", "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=21KR&bu=0&command=select+.A:298;+center+selection;+zoom+selection" }, "start_pos": 298, "start_aa": "Asn", "end_pos": 298, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn298", "evidence": [ { "id": "P27467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P27467#ptm_processing" }, { "id": "21KR", "database": "PDB", "url": "https://www.rcsb.org/structure/21KR" }, { "id": "21KR", "database": "PDB", "url": "https://www.rcsb.org/structure/21KR" }, { "id": "21KS", "database": "PDB", "url": "https://www.rcsb.org/structure/21KS" }, { "id": "21KS", "database": "PDB", "url": "https://www.rcsb.org/structure/21KS" }, { "id": "21KT", "database": "PDB", "url": "https://www.rcsb.org/structure/21KT" }, { "id": "21KT", "database": "PDB", "url": "https://www.rcsb.org/structure/21KT" }, { "id": "21KR|A|298", "database": "", "url": "" }, { "id": "21KR|E|298", "database": "", "url": "" }, { "id": "21KS|E|298", "database": "", "url": "" }, { "id": "21KS|A|298", "database": "", "url": "" }, { "id": "21KT|E|298", "database": "", "url": "" }, { "id": "21KT|A|298", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P27467-1", "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 }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": { "label": "iCn3D", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?bcifid=21KR&bu=0&command=select+.A:87;+center+selection;+zoom+selection" }, "start_pos": 87, "start_aa": "Asn", "end_pos": 87, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn87", "evidence": [ { "id": "P27467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P27467#ptm_processing" }, { "id": "21KR", "database": "PDB", "url": "https://www.rcsb.org/structure/21KR" }, { "id": "21KR", "database": "PDB", "url": "https://www.rcsb.org/structure/21KR" }, { "id": "21KS", "database": "PDB", "url": "https://www.rcsb.org/structure/21KS" }, { "id": "21KS", "database": "PDB", "url": "https://www.rcsb.org/structure/21KS" }, { "id": "21KT", "database": "PDB", "url": "https://www.rcsb.org/structure/21KT" }, { "id": "21KT", "database": "PDB", "url": "https://www.rcsb.org/structure/21KT" }, { "id": "21KR|A|87", "database": "", "url": "" }, { "id": "21KR|E|87", "database": "", "url": "" }, { "id": "21KS|E|87", "database": "", "url": "" }, { "id": "21KS|A|87", "database": "", "url": "" }, { "id": "21KT|E|87", "database": "", "url": "" }, { "id": "21KT|A|87", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "P27467-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Ser209", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes palmitoleoylation, promoting formation of disulfide bonds and oligomerization.", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" }, { "database": "PubMed", "id": "17141155", "url": "https://glygen.org/publication/PubMed/17141155" }, { "database": "PubMed", "id": "25771893", "url": "https://glygen.org/publication/PubMed/25771893" } ] } ] }, { "uniprot_canonical_ac": "P27467-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Ser211", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect palmitoleoylation.", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" }, { "database": "PubMed", "id": "17141155", "url": "https://glygen.org/publication/PubMed/17141155" } ] } ] }, { "uniprot_canonical_ac": "P27467-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Thr216", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Does not affect palmitoleoylation.", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" }, { "database": "PubMed", "id": "17141155", "url": "https://glygen.org/publication/PubMed/17141155" } ] } ] }, { "uniprot_canonical_ac": "P27467-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Ser277", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect palmitoleoylation.", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" }, { "database": "PubMed", "id": "17141155", "url": "https://glygen.org/publication/PubMed/17141155" } ] } ] }, { "uniprot_canonical_ac": "P27467-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Thr292", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Does not affect palmitoleoylation.", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" }, { "database": "PubMed", "id": "17141155", "url": "https://glygen.org/publication/PubMed/17141155" } ] } ] }, { "uniprot_canonical_ac": "P27467-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Cys77", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Forms oxidized oligomers regardless of TIKI2. Does not affect palmitoleoylation.", "evidence": [ { "database": "UniProtKB", "id": "P27467", "url": "https://www.uniprot.org/uniprotkb/P27467" }, { "database": "PubMed", "id": "17141155", "url": "https://glygen.org/publication/PubMed/17141155" }, { "database": "PubMed", "id": "22726442", "url": "https://glygen.org/publication/PubMed/22726442" } ] } ] } ], "record_id": "P27467-1" }, { "uniprot_canonical_ac": "P21845-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P21845", "url": "https://www.uniprot.org/uniprotkb/P21845" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 276, "chemical_mass": 30927.0, "gene_names": "Tpsb2;Mcpt6", "protein_name": "Tryptase beta-2", "disease": [], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "P21845", "url": "https://www.uniprot.org/uniprotkb/P21845" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P21845", "url": "https://www.uniprot.org/uniprotkb/P21845" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P21845", "url": "https://www.uniprot.org/uniprotkb/P21845" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "P21845", "url": "https://www.uniprot.org/uniprotkb/P21845" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P21845", "url": "https://www.uniprot.org/uniprotkb/P21845" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P21845", "url": "https://www.uniprot.org/uniprotkb/P21845" } ], "pmid": "" }, { "name": "peptidase complex", "id": "GO:1905368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905368", "evidence": [ { "database": "UniProtKB", "id": "P21845", "url": "https://www.uniprot.org/uniprotkb/P21845" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P21845", "url": "https://www.uniprot.org/uniprotkb/P21845" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P21845", "url": "https://www.uniprot.org/uniprotkb/P21845" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P21845-1", "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": "P21845", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P21845#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P21845-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Tyr98", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P21845", "url": "https://www.uniprot.org/uniprotkb/P21845" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "P21845", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21845" } ] } ] } ], "record_id": "P21845-1" }, { "uniprot_canonical_ac": "Q9DAD6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DAD6", "url": "https://www.uniprot.org/uniprotkb/Q9DAD6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 137, "chemical_mass": 14697.0, "gene_names": "Pfn3;1700012P12Rik;Pfn3", "protein_name": "Profilin-3", "disease": [], "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": "Q9DAD6", "url": "https://www.uniprot.org/uniprotkb/Q9DAD6" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q9DAD6", "url": "https://www.uniprot.org/uniprotkb/Q9DAD6" } ], "pmid": "" }, { "name": "regulation of actin filament polymerization", "id": "GO:0030833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030833", "evidence": [ { "database": "UniProtKB", "id": "Q9DAD6", "url": "https://www.uniprot.org/uniprotkb/Q9DAD6" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9DAD6", "url": "https://www.uniprot.org/uniprotkb/Q9DAD6" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q9DAD6", "url": "https://www.uniprot.org/uniprotkb/Q9DAD6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DAD6", "url": "https://www.uniprot.org/uniprotkb/Q9DAD6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DAD6", "url": "https://www.uniprot.org/uniprotkb/Q9DAD6" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9DAD6", "url": "https://www.uniprot.org/uniprotkb/Q9DAD6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9DAD6-1" }, { "uniprot_canonical_ac": "Q9EQJ9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1476, "chemical_mass": 161672.0, "gene_names": "Magi3;4732496O19Rik;6530407C02Rik;Kiaa1634;Magi3;mKIAA1634", "protein_name": "Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3", "disease": [], "molecular_function": [ { "name": "frizzled binding", "id": "GO:0005109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005109", "evidence": [ { "database": "UniProtKB", "id": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" } ], "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": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EQJ9-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Asn277", "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": "TVPSYNQTNSSMDFR", "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": "Q9EQJ9-1", "start_pos": "1321", "end_pos": "1321", "site_lbl": "Ser1321", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" } ] } ] }, { "uniprot_canonical_ac": "Q9EQJ9-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Ser236", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q9EQJ9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EQJ9" } ] } ] }, { "uniprot_canonical_ac": "Q9EQJ9-1", "start_pos": "598", "end_pos": "598", "site_lbl": "Ser598", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" } ] } ] }, { "uniprot_canonical_ac": "Q9EQJ9-1", "start_pos": "702", "end_pos": "702", "site_lbl": "Ser702", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" } ] } ] }, { "uniprot_canonical_ac": "Q9EQJ9-1", "start_pos": "833", "end_pos": "833", "site_lbl": "Ser833", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" } ] } ] }, { "uniprot_canonical_ac": "Q9EQJ9-1", "start_pos": "916", "end_pos": "916", "site_lbl": "Ser916", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EQJ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQJ9" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9EQJ9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EQJ9" } ] } ] } ], "record_id": "Q9EQJ9-1" }, { "uniprot_canonical_ac": "Q60754-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60754", "url": "https://www.uniprot.org/uniprotkb/Q60754" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 518, "chemical_mass": 52730.0, "gene_names": "Marco;Ly112;Marco;Scara2", "protein_name": "Macrophage receptor MARCO", "disease": [ { "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: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: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: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 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q60754", "url": "https://www.uniprot.org/uniprotkb/Q60754" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60754", "url": "https://www.uniprot.org/uniprotkb/Q60754" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q60754", "url": "https://www.uniprot.org/uniprotkb/Q60754" } ], "pmid": "" }, { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "Q60754", "url": "https://www.uniprot.org/uniprotkb/Q60754" } ], "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": "Q60754", "url": "https://www.uniprot.org/uniprotkb/Q60754" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "Q60754", "url": "https://www.uniprot.org/uniprotkb/Q60754" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q60754", "url": "https://www.uniprot.org/uniprotkb/Q60754" } ], "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": "Q60754", "url": "https://www.uniprot.org/uniprotkb/Q60754" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q60754", "url": "https://www.uniprot.org/uniprotkb/Q60754" } ], "pmid": "" }, { "name": "apoptotic cell clearance", "id": "GO:0043277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043277", "evidence": [ { "database": "UniProtKB", "id": "Q60754", "url": "https://www.uniprot.org/uniprotkb/Q60754" } ], "pmid": "" }, { "name": "amyloid-beta clearance", "id": "GO:0097242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097242", "evidence": [ { "database": "UniProtKB", "id": "Q60754", "url": "https://www.uniprot.org/uniprotkb/Q60754" } ], "pmid": "" } ], "molecular_function": [ { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "Q60754", "url": "https://www.uniprot.org/uniprotkb/Q60754" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "Q60754", "url": "https://www.uniprot.org/uniprotkb/Q60754" } ], "pmid": "" }, { "name": "cargo receptor activity", "id": "GO:0038024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038024", "evidence": [ { "database": "UniProtKB", "id": "Q60754", "url": "https://www.uniprot.org/uniprotkb/Q60754" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60754-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Asn138", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": 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": "Q60754", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60754#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60754-1", "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": "Q60754", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60754#ptm_processing" } ] } ] } ], "record_id": "Q60754-1" }, { "uniprot_canonical_ac": "Q8VHJ5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 795, "chemical_mass": 88335.0, "gene_names": "Mark1;B930025N23Rik;Emk3;Kiaa1477;Mark1;Par-1c;mKIAA1477;mPar-1c", "protein_name": "Serine/threonine-protein kinase MARK1", "disease": [ { "disease_id": "DOID:0070356", "name": "visual impairment and progressive phthisis bulbi", "description": "An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3.", "url": "https://disease-ontology.org/term/DOID:0070356", "evidence": [ { "id": "0070356", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070356" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "tau-protein kinase activity", "id": "GO:0050321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050321", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "phosphatidic acid binding", "id": "GO:0070300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070300", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" } ], "biological_process": [ { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "regulation of neuron projection development", "id": "GO:0010975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010975", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "regulation of dendrite development", "id": "GO:0050773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050773", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "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": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "establishment of mitochondrion localization", "id": "GO:0051654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051654", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" }, { "name": "regulation of postsynapse assembly", "id": "GO:0150052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150052", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Ser523", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 523, "start_aa": "Ser", "end_pos": 523, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser523", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8VHJ5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Ser524", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 524, "start_aa": "Ser", "end_pos": 524, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser524", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8VHJ5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Thr526", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 526, "start_aa": "Thr", "end_pos": 526, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr526", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8VHJ5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "529", "end_pos": "529", "site_lbl": "Ser529", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 529, "start_aa": "Ser", "end_pos": 529, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser529", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8VHJ5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "531", "end_pos": "531", "site_lbl": "Ser531", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 531, "start_aa": "Ser", "end_pos": 531, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser531", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8VHJ5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "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": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8VHJ5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "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": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8VHJ5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "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": "Q8VHJ5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Ser649", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 649, "start_aa": "Ser", "end_pos": 649, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser649", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "Q8VHJ5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8VHJ5" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "Q8VHJ5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Thr208", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Thr215", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Ser219", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Ser382", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "390", "end_pos": "390", "site_lbl": "Ser390", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Ser393", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Ser403", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" }, { "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": "Q8VHJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Ser423", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Ser444", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Ser475", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8VHJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "588", "end_pos": "588", "site_lbl": "Ser588", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Thr5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "613", "end_pos": "613", "site_lbl": "Thr613", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" } ] } ] }, { "uniprot_canonical_ac": "Q8VHJ5-1", "start_pos": "666", "end_pos": "666", "site_lbl": "Ser666", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VHJ5", "url": "https://www.uniprot.org/uniprotkb/Q8VHJ5" }, { "database": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" }, { "database": "iPTMnet", "id": "Q8VHJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VHJ5" } ] } ] } ], "record_id": "Q8VHJ5-1" }, { "uniprot_canonical_ac": "P97310-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 904, "chemical_mass": 102078.0, "gene_names": "Mcm2;BM28;Bm28;CDCL1;Cdcl1;Kiaa0030;Mcm2;Mcmd2;mKIAA0030", "protein_name": "DNA replication licensing factor MCM2", "disease": [ { "disease_id": "DOID:0110592", "name": "autosomal dominant nonsyndromic deafness 70", "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21.", "url": "https://disease-ontology.org/term/DOID:0110592", "evidence": [ { "id": "0110592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110592" } ], "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 } ], "molecular_function": [ { "name": "DNA replication origin binding", "id": "GO:0003688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003688", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "DNA helicase activity", "id": "GO:0003678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003678", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "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": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "MCM complex", "id": "GO:0042555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042555", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "CMG complex", "id": "GO:0071162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071162", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" } ], "biological_process": [ { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "cellular response to interleukin-4", "id": "GO:0071353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071353", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "DNA replication initiation", "id": "GO:0006270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006270", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "mitotic DNA replication initiation", "id": "GO:1902975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902975", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "double-strand break repair via break-induced replication", "id": "GO:0000727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000727", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" }, { "name": "premeiotic DNA replication", "id": "GO:0006279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006279", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97310-1", "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": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "P97310", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P97310" }, { "id": "29562282", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29562282" }, { "id": "P97310", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P97310" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97310", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97310" } ] } ] }, { "uniprot_canonical_ac": "P97310-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "P97310", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97310" } ] } ] }, { "uniprot_canonical_ac": "P97310-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Tyr137", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ] } ] }, { "uniprot_canonical_ac": "P97310-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Ser139", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "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": "P97310", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97310" } ] } ] }, { "uniprot_canonical_ac": "P97310-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Ser140", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" }, { "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": "P97310", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97310" } ] } ] }, { "uniprot_canonical_ac": "P97310-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ser21", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" }, { "database": "PubMed", "id": "17622165", "url": "https://glygen.org/publication/PubMed/17622165" }, { "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": "P97310", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97310" } ] } ] }, { "uniprot_canonical_ac": "P97310-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Thr25", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ] } ] }, { "uniprot_canonical_ac": "P97310-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Ser26", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ] } ] }, { "uniprot_canonical_ac": "P97310-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Ser27", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" }, { "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": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97310", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97310" } ] } ] }, { "uniprot_canonical_ac": "P97310-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Ser32", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ] } ] }, { "uniprot_canonical_ac": "P97310-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Ser381", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ] } ] }, { "uniprot_canonical_ac": "P97310-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Thr39", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ] } ] }, { "uniprot_canonical_ac": "P97310-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ser40", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ] } ] }, { "uniprot_canonical_ac": "P97310-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Ser41", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P97310", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97310" } ] } ] }, { "uniprot_canonical_ac": "P97310-1", "start_pos": "484", "end_pos": "484", "site_lbl": "Ser484", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ] } ] }, { "uniprot_canonical_ac": "P97310-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Ser53", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ] } ] }, { "uniprot_canonical_ac": "P97310-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Thr59", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" } ] } ] }, { "uniprot_canonical_ac": "P97310-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Leu237", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Impairs interaction with KAT7.", "evidence": [ { "database": "UniProtKB", "id": "P97310", "url": "https://www.uniprot.org/uniprotkb/P97310" }, { "database": "PubMed", "id": "11278932", "url": "https://glygen.org/publication/PubMed/11278932" } ] } ] } ], "record_id": "P97310-1" }, { "uniprot_canonical_ac": "Q6KAU4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 317, "chemical_mass": 35411.0, "gene_names": "Mvb12b;2610200O14Rik;2610528K11Rik;Fam125b;Mvb12b", "protein_name": "Multivesicular body subunit 12B", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ], "pmid": "" }, { "name": "ESCRT I complex", "id": "GO:0000813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000813", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ], "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": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ], "pmid": "" }, { "name": "viral budding", "id": "GO:0046755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046755", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ], "pmid": "" }, { "name": "virus maturation", "id": "GO:0019075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019075", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6KAU4-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Thr212", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 212, "start_aa": "Thr", "end_pos": 212, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr212", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6KAU4-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Thr120", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ] } ] }, { "uniprot_canonical_ac": "Q6KAU4-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Thr202", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ] } ] }, { "uniprot_canonical_ac": "Q6KAU4-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Thr203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ] } ] }, { "uniprot_canonical_ac": "Q6KAU4-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Ser222", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6KAU4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6KAU4" } ] } ] }, { "uniprot_canonical_ac": "Q6KAU4-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Ser307", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ] } ] }, { "uniprot_canonical_ac": "Q6KAU4-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Ser99", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6KAU4", "url": "https://www.uniprot.org/uniprotkb/Q6KAU4" } ] } ] }, { "uniprot_canonical_ac": "Q6KAU4-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Ala60", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRA->NRT).", "chr_id": "2", "chr_pos": "33764370", "evidence": [ { "id": "rs3388549581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388549581" } ] } ] } ], "record_id": "Q6KAU4-1" }, { "uniprot_canonical_ac": "Q5FW53-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5FW53", "url": "https://www.uniprot.org/uniprotkb/Q5FW53" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 355, "chemical_mass": 38760.0, "gene_names": "Mybphl;1110037P11Rik;Mybphl", "protein_name": "Myosin-binding protein H-like", "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": "Q5FW53", "url": "https://www.uniprot.org/uniprotkb/Q5FW53" } ], "pmid": "" } ], "cellular_component": [ { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "Q5FW53", "url": "https://www.uniprot.org/uniprotkb/Q5FW53" } ], "pmid": "" }, { "name": "myofilament", "id": "GO:0036379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036379", "evidence": [ { "database": "UniProtKB", "id": "Q5FW53", "url": "https://www.uniprot.org/uniprotkb/Q5FW53" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5FW53-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Ser39", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5FW53", "url": "https://www.uniprot.org/uniprotkb/Q5FW53" } ] } ] } ], "record_id": "Q5FW53-1" }, { "uniprot_canonical_ac": "Q6NSQ7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6NSQ7", "url": "https://www.uniprot.org/uniprotkb/Q6NSQ7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 470, "chemical_mass": 54023.0, "gene_names": "Ltv1;2610020N02Rik;Ltv1", "protein_name": "Protein LTV1 homolog", "disease": [ { "disease_id": "DOID:0070510", "name": "inflammatory poikiloderma with hair abnormalities and acral keratoses", "description": "A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2.", "url": "https://disease-ontology.org/term/DOID:0070510", "evidence": [ { "id": "0070510", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070510" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6NSQ7", "url": "https://www.uniprot.org/uniprotkb/Q6NSQ7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q6NSQ7", "url": "https://www.uniprot.org/uniprotkb/Q6NSQ7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6NSQ7", "url": "https://www.uniprot.org/uniprotkb/Q6NSQ7" } ], "pmid": "" }, { "name": "preribosome, small subunit precursor", "id": "GO:0030688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030688", "evidence": [ { "database": "UniProtKB", "id": "Q6NSQ7", "url": "https://www.uniprot.org/uniprotkb/Q6NSQ7" } ], "pmid": "" } ], "biological_process": [ { "name": "ribosome biogenesis", "id": "GO:0042254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042254", "evidence": [ { "database": "UniProtKB", "id": "Q6NSQ7", "url": "https://www.uniprot.org/uniprotkb/Q6NSQ7" } ], "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": "Q6NSQ7", "url": "https://www.uniprot.org/uniprotkb/Q6NSQ7" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "Q6NSQ7", "url": "https://www.uniprot.org/uniprotkb/Q6NSQ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6NSQ7-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Ser17", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NSQ7", "url": "https://www.uniprot.org/uniprotkb/Q6NSQ7" } ] } ] }, { "uniprot_canonical_ac": "Q6NSQ7-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Ser243", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NSQ7", "url": "https://www.uniprot.org/uniprotkb/Q6NSQ7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q6NSQ7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NSQ7" } ] } ] }, { "uniprot_canonical_ac": "Q6NSQ7-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NSQ7", "url": "https://www.uniprot.org/uniprotkb/Q6NSQ7" } ] } ] }, { "uniprot_canonical_ac": "Q6NSQ7-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Ser326", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NSQ7", "url": "https://www.uniprot.org/uniprotkb/Q6NSQ7" } ] } ] }, { "uniprot_canonical_ac": "Q6NSQ7-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Ser403", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6NSQ7", "url": "https://www.uniprot.org/uniprotkb/Q6NSQ7" } ] } ] } ], "record_id": "Q6NSQ7-1" }, { "uniprot_canonical_ac": "Q8BJ34-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BJ34", "url": "https://www.uniprot.org/uniprotkb/Q8BJ34" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1730, "chemical_mass": 192064.0, "gene_names": "Marf1;4921513D23Rik;E030019O05;Kiaa0430;Lkap;Marf1;mKIAA0430", "protein_name": "Meiosis regulator and mRNA stability factor 1", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ34", "url": "https://www.uniprot.org/uniprotkb/Q8BJ34" } ], "pmid": "" }, { "name": "RNA nuclease activity", "id": "GO:0004540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004540", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ34", "url": "https://www.uniprot.org/uniprotkb/Q8BJ34" } ], "pmid": "" }, { "name": "CCR4-NOT complex binding", "id": "GO:1905762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905762", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ34", "url": "https://www.uniprot.org/uniprotkb/Q8BJ34" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ34", "url": "https://www.uniprot.org/uniprotkb/Q8BJ34" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ34", "url": "https://www.uniprot.org/uniprotkb/Q8BJ34" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ34", "url": "https://www.uniprot.org/uniprotkb/Q8BJ34" } ], "pmid": "" } ], "biological_process": [ { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ34", "url": "https://www.uniprot.org/uniprotkb/Q8BJ34" } ], "pmid": "" }, { "name": "female meiotic nuclear division", "id": "GO:0007143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007143", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ34", "url": "https://www.uniprot.org/uniprotkb/Q8BJ34" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ34", "url": "https://www.uniprot.org/uniprotkb/Q8BJ34" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ34", "url": "https://www.uniprot.org/uniprotkb/Q8BJ34" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BJ34-1", "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": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q8BJ34", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8BJ34" } ] } ] }, { "uniprot_canonical_ac": "Q8BJ34-1", "start_pos": "682", "end_pos": "682", "site_lbl": "Thr682", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 682, "start_aa": "Thr", "end_pos": 682, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr682", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8BJ34-1", "start_pos": "1081", "end_pos": "1081", "site_lbl": "Ser1081", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ34", "url": "https://www.uniprot.org/uniprotkb/Q8BJ34" } ] } ] }, { "uniprot_canonical_ac": "Q8BJ34-1", "start_pos": "1083", "end_pos": "1083", "site_lbl": "Ser1083", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ34", "url": "https://www.uniprot.org/uniprotkb/Q8BJ34" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BJ34", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BJ34" } ] } ] }, { "uniprot_canonical_ac": "Q8BJ34-1", "start_pos": "1684", "end_pos": "1684", "site_lbl": "Ser1684", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ34", "url": "https://www.uniprot.org/uniprotkb/Q8BJ34" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BJ34", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BJ34" } ] } ] }, { "uniprot_canonical_ac": "Q8BJ34-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ34", "url": "https://www.uniprot.org/uniprotkb/Q8BJ34" } ] } ] }, { "uniprot_canonical_ac": "Q8BJ34-1", "start_pos": "698", "end_pos": "698", "site_lbl": "Tyr698", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BJ34", "url": "https://www.uniprot.org/uniprotkb/Q8BJ34" }, { "database": "PubMed", "id": "17947660", "url": "https://glygen.org/publication/PubMed/17947660" }, { "database": "iPTMnet", "id": "Q8BJ34", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BJ34" } ] } ] }, { "uniprot_canonical_ac": "Q8BJ34-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Lys4", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KGT->NGT).", "chr_id": "16", "chr_pos": "13971825", "evidence": [ { "id": "rs244663773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244663773" } ] } ] }, { "uniprot_canonical_ac": "Q8BJ34-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Lys55", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKK->NKT).", "chr_id": "16", "chr_pos": "13970554", "evidence": [ { "id": "rs3389404349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389404349" } ] } ] } ], "record_id": "Q8BJ34-1" }, { "uniprot_canonical_ac": "Q8BPM2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BPM2", "url": "https://www.uniprot.org/uniprotkb/Q8BPM2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 847, "chemical_mass": 95045.0, "gene_names": "Map4k5;4432415E19Rik;GCKR;KHS;MAPKKKK5;Map4k5", "protein_name": "Mitogen-activated protein kinase kinase kinase kinase 5", "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: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": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM2", "url": "https://www.uniprot.org/uniprotkb/Q8BPM2" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM2", "url": "https://www.uniprot.org/uniprotkb/Q8BPM2" } ], "pmid": "" }, { "name": "MAP kinase kinase kinase kinase activity", "id": "GO:0008349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008349", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM2", "url": "https://www.uniprot.org/uniprotkb/Q8BPM2" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM2", "url": "https://www.uniprot.org/uniprotkb/Q8BPM2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM2", "url": "https://www.uniprot.org/uniprotkb/Q8BPM2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM2", "url": "https://www.uniprot.org/uniprotkb/Q8BPM2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM2", "url": "https://www.uniprot.org/uniprotkb/Q8BPM2" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM2", "url": "https://www.uniprot.org/uniprotkb/Q8BPM2" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM2", "url": "https://www.uniprot.org/uniprotkb/Q8BPM2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BPM2-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Ser335", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM2", "url": "https://www.uniprot.org/uniprotkb/Q8BPM2" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "iPTMnet", "id": "Q8BPM2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BPM2" } ] } ] }, { "uniprot_canonical_ac": "Q8BPM2-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Ser433", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BPM2", "url": "https://www.uniprot.org/uniprotkb/Q8BPM2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q8BPM2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8BPM2" } ] } ] } ], "record_id": "Q8BPM2-1" }, { "uniprot_canonical_ac": "Q9DA11-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DA11", "url": "https://www.uniprot.org/uniprotkb/Q9DA11" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 148, "chemical_mass": 16818.0, "gene_names": "Lyzl6;1700023H08Rik;Lyc1;Lyzb;Lyzl6", "protein_name": "Lysozyme-like protein 6", "disease": [ { "disease_id": "DOID:934", "name": "viral infectious disease", "description": "A disease by infectious agent that results in infection, has_material_basis_in Viruses.", "url": "https://disease-ontology.org/term/DOID:934", "evidence": [ { "id": "934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:934" } ], "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": "Q9DA11", "url": "https://www.uniprot.org/uniprotkb/Q9DA11" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9DA11", "url": "https://www.uniprot.org/uniprotkb/Q9DA11" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q9DA11", "url": "https://www.uniprot.org/uniprotkb/Q9DA11" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q9DA11", "url": "https://www.uniprot.org/uniprotkb/Q9DA11" } ], "pmid": "" }, { "name": "sperm plasma membrane", "id": "GO:0097524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097524", "evidence": [ { "database": "UniProtKB", "id": "Q9DA11", "url": "https://www.uniprot.org/uniprotkb/Q9DA11" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q9DA11", "url": "https://www.uniprot.org/uniprotkb/Q9DA11" } ], "pmid": "" } ], "biological_process": [ { "name": "fusion of sperm to egg plasma membrane involved in single fertilization", "id": "GO:0007342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007342", "evidence": [ { "database": "UniProtKB", "id": "Q9DA11", "url": "https://www.uniprot.org/uniprotkb/Q9DA11" } ], "pmid": "" }, { "name": "fertilization", "id": "GO:0009566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009566", "evidence": [ { "database": "UniProtKB", "id": "Q9DA11", "url": "https://www.uniprot.org/uniprotkb/Q9DA11" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q9DA11", "url": "https://www.uniprot.org/uniprotkb/Q9DA11" } ], "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": "Q9DA11", "url": "https://www.uniprot.org/uniprotkb/Q9DA11" } ], "pmid": "" } ], "molecular_function": [ { "name": "lysozyme activity", "id": "GO:0003796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003796", "evidence": [ { "database": "UniProtKB", "id": "Q9DA11", "url": "https://www.uniprot.org/uniprotkb/Q9DA11" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DA11-1", "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": "Q9DA11", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9DA11#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9DA11-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Ser103", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "103524795", "evidence": [ { "id": "rs3389208611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389208611" } ] } ] }, { "uniprot_canonical_ac": "Q9DA11-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Ser108", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "103524781", "evidence": [ { "id": "rs3389217055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389217055" } ] } ] }, { "uniprot_canonical_ac": "Q9DA11-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Val127", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "103522216", "evidence": [ { "id": "rs255414294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255414294" } ] } ] }, { "uniprot_canonical_ac": "Q9DA11-1", "start_pos": "132", "end_pos": "132", "site_lbl": "His132", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "103522200", "evidence": [ { "id": "rs3389207737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389207737" } ] } ] }, { "uniprot_canonical_ac": "Q9DA11-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Leu13", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "103527686", "evidence": [ { "id": "rs3389208280", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389208280" } ] } ] }, { "uniprot_canonical_ac": "Q9DA11-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Tyr140", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "103522176", "evidence": [ { "id": "rs3389212148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389212148" } ] } ] }, { "uniprot_canonical_ac": "Q9DA11-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Met142", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "103522171", "evidence": [ { "id": "rs1134461984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134461984" } ] } ] }, { "uniprot_canonical_ac": "Q9DA11-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Cys49", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "103525973", "evidence": [ { "id": "rs3389217045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389217045" } ] } ] }, { "uniprot_canonical_ac": "Q9DA11-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Ala4", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "103527713", "evidence": [ { "id": "rs3389178504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389178504" } ] } ] }, { "uniprot_canonical_ac": "Q9DA11-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Phe52", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "103525964", "evidence": [ { "id": "rs3389223191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223191" } ] } ] }, { "uniprot_canonical_ac": "Q9DA11-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Asn56", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "103525951", "evidence": [ { "id": "rs3389223250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223250" } ] } ] }, { "uniprot_canonical_ac": "Q9DA11-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Ser60", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "103525941", "evidence": [ { "id": "rs3548950596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3548950596" } ] } ] }, { "uniprot_canonical_ac": "Q9DA11-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Glu64", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "103525929", "evidence": [ { "id": "rs3389196698", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389196698" } ] } ] }, { "uniprot_canonical_ac": "Q9DA11-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Cys83", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "103525872_103525873insACGA", "evidence": [ { "id": "rs3402094861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402094861" } ] } ] }, { "uniprot_canonical_ac": "Q9DA11-1", "start_pos": "95", "end_pos": "95", "site_lbl": "His95", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "11", "chr_pos": "103525835", "evidence": [ { "id": "rs218929317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218929317" } ] } ] } ], "record_id": "Q9DA11-1" }, { "uniprot_canonical_ac": "Q9QXA7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QXA7", "url": "https://www.uniprot.org/uniprotkb/Q9QXA7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 346, "chemical_mass": 38272.0, "gene_names": "Trim44;Dipb;Mc7;Trim44", "protein_name": "Tripartite motif-containing protein 44", "disease": [ { "disease_id": "DOID:12271", "name": "aniridia", "description": "An iris disease that is characterized by a complete or partial absence of the colored part of the eye.", "url": "https://disease-ontology.org/term/DOID:12271", "evidence": [ { "id": "12271", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12271" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of cytokine-mediated signaling pathway", "id": "GO:0001961", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001961", "evidence": [ { "database": "UniProtKB", "id": "Q9QXA7", "url": "https://www.uniprot.org/uniprotkb/Q9QXA7" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9QXA7", "url": "https://www.uniprot.org/uniprotkb/Q9QXA7" } ], "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": "Q9QXA7", "url": "https://www.uniprot.org/uniprotkb/Q9QXA7" } ], "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": "Q9QXA7", "url": "https://www.uniprot.org/uniprotkb/Q9QXA7" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q9QXA7", "url": "https://www.uniprot.org/uniprotkb/Q9QXA7" } ], "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": "Q9QXA7", "url": "https://www.uniprot.org/uniprotkb/Q9QXA7" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9QXA7", "url": "https://www.uniprot.org/uniprotkb/Q9QXA7" } ], "pmid": "" }, { "name": "negative regulation of protein K48-linked ubiquitination", "id": "GO:0061944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061944", "evidence": [ { "database": "UniProtKB", "id": "Q9QXA7", "url": "https://www.uniprot.org/uniprotkb/Q9QXA7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QXA7", "url": "https://www.uniprot.org/uniprotkb/Q9QXA7" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9QXA7", "url": "https://www.uniprot.org/uniprotkb/Q9QXA7" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9QXA7", "url": "https://www.uniprot.org/uniprotkb/Q9QXA7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9QXA7-1", "start_pos": "338", "end_pos": "338", "site_lbl": "Ser338", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXA7", "url": "https://www.uniprot.org/uniprotkb/Q9QXA7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXA7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXA7" } ] } ] }, { "uniprot_canonical_ac": "Q9QXA7-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Ser341", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9QXA7", "url": "https://www.uniprot.org/uniprotkb/Q9QXA7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9QXA7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9QXA7" } ] } ] } ], "record_id": "Q9QXA7-1" }, { "uniprot_canonical_ac": "Q04750-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 767, "chemical_mass": 90876.0, "gene_names": "Top1;D130064I21Rik;Top-1;Top1", "protein_name": "DNA topoisomerase 1", "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": "DNA binding, bending", "id": "GO:0008301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008301", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "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": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "DNA topoisomerase type I (single strand cut, ATP-independent) activity", "id": "GO:0003917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003917", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "supercoiled DNA binding", "id": "GO:0097100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097100", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "protein-DNA complex", "id": "GO:0032993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032993", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "nuclear chromosome", "id": "GO:0000228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000228", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "dense fibrillar component", "id": "GO:0001651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001651", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "response to temperature stimulus", "id": "GO:0009266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009266", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "embryonic cleavage", "id": "GO:0040016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040016", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "rRNA transcription", "id": "GO:0009303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009303", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "DNA topological change", "id": "GO:0006265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006265", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" }, { "name": "cellular response to luteinizing hormone stimulus", "id": "GO:0071373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071373", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q04750-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Asn298", "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": "NTITNLSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 298, "start_aa": "Asn", "end_pos": 298, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn298", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q04750-1", "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": "39627609", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39627609" }, { "id": "Q04750", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q04750" }, { "id": "17932134", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17932134" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q04750", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q04750" } ] } ] }, { "uniprot_canonical_ac": "Q04750-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Ser10", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ] } ] }, { "uniprot_canonical_ac": "Q04750-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Ser114", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ] } ] }, { "uniprot_canonical_ac": "Q04750-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ] } ] }, { "uniprot_canonical_ac": "Q04750-1", "start_pos": "508", "end_pos": "508", "site_lbl": "Ser508", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ] } ] }, { "uniprot_canonical_ac": "Q04750-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Ser59", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q04750", "url": "https://www.uniprot.org/uniprotkb/Q04750" } ] } ] } ], "record_id": "Q04750-1" }, { "uniprot_canonical_ac": "Q9D0B5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D0B5", "url": "https://www.uniprot.org/uniprotkb/Q9D0B5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 157, "chemical_mass": 17271.0, "gene_names": "Tstd3;2610029I01Rik;Tstd3", "protein_name": "Thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 3", "disease": [], "molecular_function": [ { "name": "thiosulfate-cyanide sulfurtransferase activity", "id": "GO:0004792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004792", "evidence": [ { "database": "UniProtKB", "id": "Q9D0B5", "url": "https://www.uniprot.org/uniprotkb/Q9D0B5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D0B5-1" }, { "uniprot_canonical_ac": "Q8CDI2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CDI2", "url": "https://www.uniprot.org/uniprotkb/Q8CDI2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 640, "chemical_mass": 71171.0, "gene_names": "Fbxo43;Emi2", "protein_name": "F-box only protein 43", "disease": [ { "disease_id": "DOID:0112353", "name": "spermatogenic failure 64", "description": "A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FBXO43 gene on chromosome 8q22.2.", "url": "https://disease-ontology.org/term/DOID:0112353", "evidence": [ { "id": "0112353", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112353" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of cell cycle process", "id": "GO:0010948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010948", "evidence": [ { "database": "UniProtKB", "id": "Q8CDI2", "url": "https://www.uniprot.org/uniprotkb/Q8CDI2" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q8CDI2", "url": "https://www.uniprot.org/uniprotkb/Q8CDI2" } ], "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": "Q8CDI2", "url": "https://www.uniprot.org/uniprotkb/Q8CDI2" } ], "pmid": "" }, { "name": "regulation of mitotic nuclear division", "id": "GO:0007088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007088", "evidence": [ { "database": "UniProtKB", "id": "Q8CDI2", "url": "https://www.uniprot.org/uniprotkb/Q8CDI2" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "Q8CDI2", "url": "https://www.uniprot.org/uniprotkb/Q8CDI2" } ], "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": "Q8CDI2", "url": "https://www.uniprot.org/uniprotkb/Q8CDI2" } ], "pmid": "" }, { "name": "regulation of meiotic nuclear division", "id": "GO:0040020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040020", "evidence": [ { "database": "UniProtKB", "id": "Q8CDI2", "url": "https://www.uniprot.org/uniprotkb/Q8CDI2" } ], "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": "Q8CDI2", "url": "https://www.uniprot.org/uniprotkb/Q8CDI2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CDI2", "url": "https://www.uniprot.org/uniprotkb/Q8CDI2" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8CDI2", "url": "https://www.uniprot.org/uniprotkb/Q8CDI2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CDI2-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Thr176", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CDI2", "url": "https://www.uniprot.org/uniprotkb/Q8CDI2" } ] } ] }, { "uniprot_canonical_ac": "Q8CDI2-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Ser275", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CDI2", "url": "https://www.uniprot.org/uniprotkb/Q8CDI2" } ] } ] } ], "record_id": "Q8CDI2-1" }, { "uniprot_canonical_ac": "O88188-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88188", "url": "https://www.uniprot.org/uniprotkb/O88188" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 162, "chemical_mass": 17811.0, "gene_names": "Ly86;Ly86;MD-1;MD1;Md1;ly86_tv2", "protein_name": "Lymphocyte antigen 86", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O88188", "url": "https://www.uniprot.org/uniprotkb/O88188" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "O88188", "url": "https://www.uniprot.org/uniprotkb/O88188" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "O88188", "url": "https://www.uniprot.org/uniprotkb/O88188" } ], "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": "O88188", "url": "https://www.uniprot.org/uniprotkb/O88188" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88188-1", "start_pos": "156", "end_pos": "156", "site_lbl": "Asn156", "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": "ATVACANATVTSS", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 156, "start_aa": "Asn", "end_pos": 156, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn156", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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=3T6Q&bu=0&command=select+.C:156;+center+selection;+zoom+selection" }, "start_pos": 156, "start_aa": "Asn", "end_pos": 156, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn156", "evidence": [ { "id": "O88188", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O88188#ptm_processing" }, { "id": "20595044", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20595044" }, { "id": "3T6Q", "database": "PDB", "url": "https://www.rcsb.org/structure/3T6Q" }, { "id": "3T6Q", "database": "PDB", "url": "https://www.rcsb.org/structure/3T6Q" }, { "id": "3M7O", "database": "PDB", "url": "https://www.rcsb.org/structure/3M7O" }, { "id": "3M7O", "database": "PDB", "url": "https://www.rcsb.org/structure/3M7O" }, { "id": "3T6Q|C|156", "database": "", "url": "" }, { "id": "3T6Q|D|156", "database": "", "url": "" }, { "id": "3M7O|D|156", "database": "", "url": "" }, { "id": "3M7O|C|156", "database": "", "url": "" }, { "id": "3M7O|B|156", "database": "", "url": "" }, { "id": "3M7O|A|156", "database": "", "url": "" } ] } ] }, { "uniprot_canonical_ac": "O88188-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Asn96", "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": "GSSILNYSYPLCEEDQPK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://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=3T6Q&bu=0&command=select+.C:96;+center+selection;+zoom+selection" }, "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "O88188", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O88188#ptm_processing" }, { "id": "20595044", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20595044" }, { "id": "3T6Q", "database": "PDB", "url": "https://www.rcsb.org/structure/3T6Q" }, { "id": "3T6Q", "database": "PDB", "url": "https://www.rcsb.org/structure/3T6Q" }, { "id": "3M7O", "database": "PDB", "url": "https://www.rcsb.org/structure/3M7O" }, { "id": "3M7O", "database": "PDB", "url": "https://www.rcsb.org/structure/3M7O" }, { "id": "3T6Q|C|96", "database": "", "url": "" }, { "id": "3T6Q|D|96", "database": "", "url": "" }, { "id": "3M7O|D|96", "database": "", "url": "" }, { "id": "3M7O|C|96", "database": "", "url": "" }, { "id": "3M7O|B|96", "database": "", "url": "" }, { "id": "3M7O|A|96", "database": "", "url": "" } ] } ] } ], "record_id": "O88188-1" }, { "uniprot_canonical_ac": "Q9DAE8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DAE8", "url": "https://www.uniprot.org/uniprotkb/Q9DAE8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 263, "chemical_mass": 28921.0, "gene_names": "A130010J15Rik;A130010J15Rik", "protein_name": "UPF0739 protein C1orf74 homolog", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9DAE8-1" }, { "uniprot_canonical_ac": "P97769-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 203, "chemical_mass": 20800.0, "gene_names": "Cited1;Cited1;Msg1", "protein_name": "Cbp/p300-interacting transactivator 1", "disease": [], "molecular_function": [ { "name": "LBD domain binding", "id": "GO:0050693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050693", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "co-SMAD binding", "id": "GO:0070410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070410", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" } ], "biological_process": [ { "name": "embryonic axis specification", "id": "GO:0000578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000578", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "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": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "response to interleukin-2", "id": "GO:0070669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070669", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "response to interleukin-9", "id": "GO:0071104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071104", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "response to interleukin-11", "id": "GO:0071105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071105", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "response to transforming growth factor beta", "id": "GO:0071559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071559", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "nucleocytoplasmic transport", "id": "GO:0006913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006913", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "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": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "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": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "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": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "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": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "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": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "spongiotrophoblast layer development", "id": "GO:0060712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060712", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "response to interleukin-1", "id": "GO:0070555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070555", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "pigmentation", "id": "GO:0043473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "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": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "melanin biosynthetic process", "id": "GO:0042438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042438", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "response to interleukin-6", "id": "GO:0070741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070741", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "melanocyte differentiation", "id": "GO:0030318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030318", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "response to type II interferon", "id": "GO:0034341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "labyrinthine layer development", "id": "GO:0060711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060711", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "response to interleukin-4", "id": "GO:0070670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070670", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "response to parathyroid hormone", "id": "GO:0071107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071107", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P97769", "url": "https://www.uniprot.org/uniprotkb/P97769" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97769-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Thr77", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 77, "start_aa": "Thr", "end_pos": 77, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr77", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "P97769-1" }, { "uniprot_canonical_ac": "Q6PFY9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 485, "chemical_mass": 55661.0, "gene_names": "Cdc14b;2810432N10Rik;A530086E13Rik;CDC14B3;Cdc14B1;Cdc14b", "protein_name": "Dual specificity protein phosphatase CDC14B", "disease": [ { "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 } ], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "pmid": "" }, { "name": "positive regulation of ubiquitin protein ligase activity", "id": "GO:1904668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904668", "evidence": [ { "database": "UniProtKB", "id": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "pmid": "" }, { "name": "regulation of exit from mitosis", "id": "GO:0007096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007096", "evidence": [ { "database": "UniProtKB", "id": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "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": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "pmid": "" }, { "name": "positive regulation of cytokinesis", "id": "GO:0032467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032467", "evidence": [ { "database": "UniProtKB", "id": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "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": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "pmid": "" }, { "name": "protein tyrosine phosphatase activity", "id": "GO:0004725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004725", "evidence": [ { "database": "UniProtKB", "id": "Q6PFY9", "url": "https://www.uniprot.org/uniprotkb/Q6PFY9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6PFY9-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Thr290", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 290, "start_aa": "Thr", "end_pos": 290, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr290", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q6PFY9-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Asn256", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NHN->NHS).", "chr_id": "13", "chr_pos": "64363493", "evidence": [ { "id": "rs263205216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs263205216" } ] } ] } ], "record_id": "Q6PFY9-1" }, { "uniprot_canonical_ac": "Q8BGD0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGD0", "url": "https://www.uniprot.org/uniprotkb/Q8BGD0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 127, "chemical_mass": 14729.0, "gene_names": "Cep15;3830406C13Rik;Cep15", "protein_name": "Centrosomal protein 15", "disease": [], "cellular_component": [ { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q8BGD0", "url": "https://www.uniprot.org/uniprotkb/Q8BGD0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BGD0-1" }, { "uniprot_canonical_ac": "Q8R0X2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R0X2", "url": "https://www.uniprot.org/uniprotkb/Q8R0X2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 377, "chemical_mass": 42106.0, "gene_names": "Cacul1;2700078E11Rik;2810417M16Rik;9830127L17Rik;Cacul1;D130033C15Rik", "protein_name": "CDK2-associated and cullin domain-containing protein 1", "disease": [], "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": "Q8R0X2", "url": "https://www.uniprot.org/uniprotkb/Q8R0X2" } ], "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": "Q8R0X2", "url": "https://www.uniprot.org/uniprotkb/Q8R0X2" } ], "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": "Q8R0X2", "url": "https://www.uniprot.org/uniprotkb/Q8R0X2" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q8R0X2", "url": "https://www.uniprot.org/uniprotkb/Q8R0X2" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8R0X2", "url": "https://www.uniprot.org/uniprotkb/Q8R0X2" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q8R0X2", "url": "https://www.uniprot.org/uniprotkb/Q8R0X2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R0X2-1", "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": "Q8R0X2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8R0X2" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "Q8R0X2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8R0X2" } ] } ] }, { "uniprot_canonical_ac": "Q8R0X2-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Thr116", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 116, "start_aa": "Thr", "end_pos": 116, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr116", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8R0X2-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Thr125", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 125, "start_aa": "Thr", "end_pos": 125, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr125", "evidence": [ { "id": "32782141", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32782141" }, { "id": "Q8R0X2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8R0X2" } ] } ] }, { "uniprot_canonical_ac": "Q8R0X2-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Thr287", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 287, "start_aa": "Thr", "end_pos": 287, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr287", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q8R0X2-1" }, { "uniprot_canonical_ac": "Q80XR2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 918, "chemical_mass": 100299.0, "gene_names": "Atp2c1;1700121J11Rik;ATP2C1A;Atp2c1;BCPM;D930003G21Rik;HHD;Pmr1;SPCA1;SPCA;pmr1", "protein_name": "Calcium-transporting ATPase type 2C member 1", "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 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "Golgi cisterna membrane", "id": "GO:0032580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032580", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "cis-Golgi network membrane", "id": "GO:0033106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033106", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "P-type calcium transporter activity", "id": "GO:0005388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005388", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "P-type manganese transporter activity", "id": "GO:0140613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140613", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" } ], "biological_process": [ { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "positive regulation of Golgi to plasma membrane protein transport", "id": "GO:0042998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042998", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "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": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "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": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "manganese ion transport", "id": "GO:0006828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006828", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "intracellular manganese ion homeostasis", "id": "GO:0030026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030026", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "Golgi calcium ion homeostasis", "id": "GO:0032468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032468", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "Golgi calcium ion transport", "id": "GO:0032472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032472", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" }, { "name": "trans-Golgi network membrane organization", "id": "GO:0098629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098629", "evidence": [ { "database": "UniProtKB", "id": "Q80XR2", "url": "https://www.uniprot.org/uniprotkb/Q80XR2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80XR2-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Asn14", "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": "IPNVENETMIPVLTSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 14, "start_aa": "Asn", "end_pos": 14, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn14", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "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 (NET->HET).", "chr_id": "9", "chr_pos": "105347313", "evidence": [ { "id": "rs3389061463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389061463" } ] } ] }, { "uniprot_canonical_ac": "Q80XR2-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Asn417", "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": "NNTLMGK", "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": "Q80XR2-1", "start_pos": "699", "end_pos": "699", "site_lbl": "Lys699", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIK->NIT).", "chr_id": "9", "chr_pos": "105298800", "evidence": [ { "id": "rs3389061432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389061432" } ] } ] } ], "record_id": "Q80XR2-1" }, { "uniprot_canonical_ac": "Q8BIR2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BIR2", "url": "https://www.uniprot.org/uniprotkb/Q8BIR2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 672, "chemical_mass": 76370.0, "gene_names": "Aste1;1100001A21Rik;Aste1", "protein_name": "Single-strand DNA endonuclease ASTE1", "disease": [ { "disease_id": "DOID:0112182", "name": "mismatch repair cancer syndrome", "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.", "url": "https://disease-ontology.org/term/DOID:0112182", "evidence": [ { "id": "0112182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112182" } ], "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 } ], "biological_process": [ { "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": "Q8BIR2", "url": "https://www.uniprot.org/uniprotkb/Q8BIR2" } ], "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": "Q8BIR2", "url": "https://www.uniprot.org/uniprotkb/Q8BIR2" } ], "pmid": "" } ], "molecular_function": [ { "name": "single-stranded DNA endodeoxyribonuclease activity", "id": "GO:0000014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000014", "evidence": [ { "database": "UniProtKB", "id": "Q8BIR2", "url": "https://www.uniprot.org/uniprotkb/Q8BIR2" } ], "pmid": "" }, { "name": "3' overhang single-stranded DNA endodeoxyribonuclease activity", "id": "GO:1990599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990599", "evidence": [ { "database": "UniProtKB", "id": "Q8BIR2", "url": "https://www.uniprot.org/uniprotkb/Q8BIR2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BIR2-1" } ]