[ { "uniprot_canonical_ac": "Q92793-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "length": 2442, "chemical_mass": 265351.0, "gene_names": "CREBBP;CBP;CREBBP;KAT3A;MKHK1;RSTS1;RSTS", "protein_name": "CREB-binding protein", "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: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: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:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:1933", "name": "Rubinstein-Taybi syndrome", "description": "A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.", "url": "https://disease-ontology.org/term/DOID:1933", "evidence": [ { "id": "1933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1933" } ], "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: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: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: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:7474", "name": "malignant pleural mesothelioma", "description": "A pleural cancer that has_material_basis_in mesothelium cells.", "url": "https://disease-ontology.org/term/DOID:7474", "evidence": [ { "id": "7474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7474" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "MONDO:0020763", "name": "Menke-Hennekam syndrome 1", "description": "", "url": "https://monarchinitiative.org/disease/MONDO:0020763", "evidence": [ { "id": "618332", "database": "MIM", "url": "https://www.omim.org/entry/618332" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein-lysine-acetyltransferase activity", "id": "GO:0061733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061733", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "tau protein binding", "id": "GO:0048156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048156", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "p53 binding", "id": "GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "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": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "histone acetyltransferase activity", "id": "GO:0004402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004402", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "acetyltransferase activity", "id": "GO:0016407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016407", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "MRF binding", "id": "GO:0043426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043426", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "histone H3K18 acetyltransferase activity", "id": "GO:0043993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043993", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "histone H3K27 acetyltransferase activity", "id": "GO:0044017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044017", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "peptide lactyltransferase (CoA-dependent) activity", "id": "GO:0120300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120300", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "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": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "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": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "regulation of cellular response to heat", "id": "GO:1900034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900034", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "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": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030511", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "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": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "regulation of smoothened signaling pathway", "id": "GO:0008589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008589", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase I", "id": "GO:0016479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016479", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "stimulatory C-type lectin receptor signaling pathway", "id": "GO:0002223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002223", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "negative regulation of transcription of nucleolar large rRNA by RNA polymerase I", "id": "GO:1901837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901837", "evidence": [ { "database": "UniProtKB", "id": "Q92793", "url": "https://www.uniprot.org/uniprotkb/Q92793" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": 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Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated.", "url": "https://monarchinitiative.org/disease/MONDO:0012997", "evidence": [ { "id": "301068", "database": "MIM", "url": "https://www.omim.org/entry/301068" } ], "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": "Q93074", "url": "https://www.uniprot.org/uniprotkb/Q93074" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q93074", "url": "https://www.uniprot.org/uniprotkb/Q93074" } ], "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": "Q93074", "url": 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"UniProtKB", "id": "Q93074", "url": "https://www.uniprot.org/uniprotkb/Q93074" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q93074", "url": "https://www.uniprot.org/uniprotkb/Q93074" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q93074", "url": "https://www.uniprot.org/uniprotkb/Q93074" } ], "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": "Q93074", "url": "https://www.uniprot.org/uniprotkb/Q93074" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q93074", "url": "https://www.uniprot.org/uniprotkb/Q93074" } ], "pmid": "" }, { "name": "nuclear thyroid hormone receptor binding", "id": "GO:0046966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046966", "evidence": [ { "database": "UniProtKB", "id": "Q93074", "url": "https://www.uniprot.org/uniprotkb/Q93074" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q93074", "url": "https://www.uniprot.org/uniprotkb/Q93074" } ], "pmid": "" }, { "name": "nuclear vitamin D receptor binding", "id": "GO:0042809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042809", "evidence": [ { "database": "UniProtKB", "id": "Q93074", "url": "https://www.uniprot.org/uniprotkb/Q93074" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q93074", "url": "https://www.uniprot.org/uniprotkb/Q93074" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q93074", "url": "https://www.uniprot.org/uniprotkb/Q93074" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q93074", "url": "https://www.uniprot.org/uniprotkb/Q93074" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q93074", "url": "https://www.uniprot.org/uniprotkb/Q93074" } ], "pmid": "" }, { "name": "mediator complex", "id": "GO:0016592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016592", "evidence": [ { "database": 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"database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ] } ], "record_id": "batch.Q93074-1" }, { "uniprot_canonical_ac": "Q96DT5-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96DT5", "url": "https://www.uniprot.org/uniprotkb/Q96DT5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "length": 4516, "chemical_mass": 520369.0, "gene_names": "DNAH11;CILD7;DNAH11;DNAHBL;DNAHC11;DNHBL;DPL11", "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": 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"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": "611884", "database": "MIM", "url": "https://www.omim.org/entry/611884" }, { "id": "0110605", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110605" } ], "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": "Q96DT5", "url": "https://www.uniprot.org/uniprotkb/Q96DT5" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q96DT5", "url": "https://www.uniprot.org/uniprotkb/Q96DT5" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q96DT5", "url": "https://www.uniprot.org/uniprotkb/Q96DT5" } ], "pmid": "" }, { "name": "regulation of cilium beat frequency", "id": "GO:0003356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003356", "evidence": [ { "database": "UniProtKB", "id": "Q96DT5", "url": "https://www.uniprot.org/uniprotkb/Q96DT5" } ], "pmid": "" }, { "name": "protein localization to motile cilium", "id": "GO:0120229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120229", "evidence": [ { "database": "UniProtKB", "id": "Q96DT5", "url": "https://www.uniprot.org/uniprotkb/Q96DT5" } ], 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