{ "uniprot_canonical_ac": "D3ZKU7-1", "uniprot_ac": "D3ZKU7", "uniprot_id": "BL1S1_RAT", "mass": { "chemical_mass": 14311.0, "monoisotopic_mass": 14311.0 }, "refseq": { "ac": "NP_001099411", "name": "biogenesis of lysosome-related organelles complex 1 subunit 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099411" }, "gene_names": [ { "name": "Bloc1s1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/D3ZKU7", "id": "D3ZKU7" }, { "name": "Rdh5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/D3ZKU7", "id": "D3ZKU7" }, { "name": "Bloc1s1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099411", "id": "NP_001099411" }, { "name": "Bloc1s1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/D3ZKU7", "id": "D3ZKU7" } ], "protein_names": [ { "name": "Biogenesis of lysosome-related organelles complex 1 subunit 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "D3ZKU7" }, { "name": "BLOC-1 subunit 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099411", "id": "NP_001099411" }, { "name": "BLOC-1 subunit 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "D3ZKU7" }, { "name": "biogenesis of lysosome-related organelles complex 1 subunit 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099411", "id": "NP_001099411" } ], "function": [ { "annotation": "Acetylation of cardiac mitochondrial fatty acid oxidation enzymes by GCN5L1 significantly upregulates their activity in diet-induced obese mice.", "evidence": [ { "database": "RefSeq", "id": "NP_001099411", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099411" }, { "database": "PubMed", "id": "28526709", "url": "https://glygen.org/publication/PubMed/28526709" } ] }, { "annotation": "Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. The BORC complex is most probably associated with the cytosolic face of lysosomes, may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor.", "evidence": [ { "database": "UniProtKB", "id": "D3ZKU7", "url": "https://www.uniprot.org/uniprot/D3ZKU7#function" }, { "database": "UniProtKB", "id": "P78537", "url": "https://www.uniprot.org/uniprot/P78537#function" } ] }, { "annotation": "Loss of GCN5L1 activity under hyperglycemic conditions impairs cardiac energy metabolism.", "evidence": [ { "database": "RefSeq", "id": "NP_001099411", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099411" }, { "database": "PubMed", "id": "31033247", "url": "https://glygen.org/publication/PubMed/31033247" } ] }, { "annotation": "May negatively regulate aerobic respiration through mitochondrial protein lysine-acetylation. May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5F1A and NDUFA9.", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZQV1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZQV1#function" }, { "database": "UniProtKB", "id": "ARBA00003284", "url": "https://www.uniprot.org/uniprot/ARBA00003284#function" }, { "database": "UniProtKB", "id": "D3ZKU7", "url": "https://www.uniprot.org/uniprot/D3ZKU7#function" }, { "database": "UniProtKB", "id": "P78537", "url": "https://www.uniprot.org/uniprot/P78537#function" }, { "database": "UniProtKB", "id": "A0A8I5ZSQ1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZSQ1#function" }, { "database": "UniProtKB", "id": "A0A8I6AE76", "url": "https://www.uniprot.org/uniprot/A0A8I6AE76#function" } ] }, { "annotation": "NGF receptor signaling induces histone acetyltransferase domain-dependent nuclear translocation of PCAF and hGCN5 acetyltransferases", "evidence": [ { "database": "RefSeq", "id": "NP_001099411", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099411" }, { "database": "PubMed", "id": "15496412", "url": "https://glygen.org/publication/PubMed/15496412" } ] } ], "disease": [ { "disease_id": "DOID:11105", "recommended_name": { "id": "DOID:11105", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11105", "name": "fundus albipunctatus", "description": "A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement." }, "synonyms": [ { "id": "DOID:11105", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11105", "name": "Pigmentary retinal dystrophy", "description": "" }, { "id": "DOID:11105", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11105", "name": "retinitis punctata albescens", "description": "" }, { "id": "MONDO:0007639", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007639", "name": "fundus albipunctatus", "description": "Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age." }, { "id": "MONDO:0007639", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007639", "name": "retinitis punctata albescens", "description": "" }, { "id": "MONDO:0007639", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007639", "name": "fundus albipunctatus", "description": "" }, { "id": "MONDO:0007639", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007639", "name": "pigmentary retinal dystrophy", "description": "" }, { "id": "MIM:136880", "resource": "MIM", "url": "https://www.omim.org/entry/136880", "name": "Fundus albipunctatus", "description": "Fundus albipunctatus" } ], "evidence": [ { "id": "11105", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11105" } ] }, { "disease_id": "DOID:3753", "recommended_name": { "id": "DOID:3753", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3753", "name": "Hermansky-Pudlak syndrome", "description": "A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin." }, "synonyms": [ { "id": "MONDO:0008748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "name": "Hermansky-Pudlak syndrome 1", "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene." }, { "id": "MONDO:0008748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "name": "HPS1 Hermansky-Pudlak syndrome", "description": "" }, { "id": "MONDO:0008748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "name": "Hermansky-Pudlak syndrome 1", "description": "" }, { "id": "MONDO:0008748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "name": "Hermansky-Pudlak syndrome caused by mutation in HPS1", "description": "" }, { "id": "MONDO:0008748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "name": "Hermansky-Pudlak syndrome type 1", "description": "" }, { "id": "MONDO:0008748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "name": "Delta storage pool disease", "description": "" }, { "id": "MONDO:0008748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "name": "HPS1", "description": "" }, { "id": "MONDO:0008748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "name": "albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells", "description": "" }, { "id": "MIM:203300", "resource": "MIM", "url": "https://www.omim.org/entry/203300", "name": "Hermansky-Pudlak syndrome 1", "description": "Hermansky-Pudlak syndrome 1" } ], "evidence": [ { "id": "3753", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3753" } ] }, { "disease_id": "DOID:5419", "recommended_name": { "id": "DOID:5419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness." }, "synonyms": [ { "id": "DOID:5419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5419", "name": "schizophrenia-1", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia", "description": "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia 12", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia (disease)", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia-1", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "SCZD", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizoaffective disorder", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia with or without an affective disorder", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia, susceptibility to", "description": "" }, { "id": "MIM:181500", "resource": "MIM", "url": "https://www.omim.org/entry/181500", "name": "Schizophrenia", "description": "Schizophrenia" } ], "evidence": [ { "id": "5419", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ] }, { "disease_id": "DOID:8499", "recommended_name": { "id": "DOID:8499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8499", "name": "night blindness", "description": "A retinal disease that is characterized by difficulty or the inability to see in relatively low light." }, "synonyms": [ { "id": "DOID:8499", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8499", "name": "nyctalopia", "description": "" } ], "evidence": [ { "id": "8499", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8499" } ] }, { "disease_id": "DOID:896", "recommended_name": { "id": "DOID:896", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:896", "name": "metal metabolism disorder", "description": "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals." }, "synonyms": [ { "id": "DOID:896", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:896", "name": "inborn metal metabolism disorder", "description": "" } ], "evidence": [ { "id": "896", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:896" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZKU7", "url": "https://www.uniprot.org/uniprot/D3ZKU7" } ], "common_name": "Rat" } ], "gene": [ { "name": "Bloc1s1", "url": "https://www.uniprot.org/uniprot/D3ZKU7", "locus": {} } ], "crossref": [ { "id": "ENSRNOG00000007784", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000007784", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "ENSRNOG00000053850", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000053850", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "288785", "url": "https://www.ncbi.nlm.nih.gov/gene/288785", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "366791", "url": "https://www.ncbi.nlm.nih.gov/gene/366791", "database": "GeneID", "categories": [ 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}, { "id": "R-RNO-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5365859", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001099411", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099411", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "1307564", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1307564", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "1308849", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1308849", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A0G2K1R4", "url": "https://www.uniprot.org/uniprot/A0A0G2K1R4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2K1R4-1", "url": "https://www.uniprot.org/uniprot/A0A0G2K1R4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5ZQV1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZQV1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5ZQV1-1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZQV1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5ZSQ1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZSQ1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5ZSQ1-1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZSQ1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6AE76", "url": "https://www.uniprot.org/uniprot/A0A8I6AE76", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6AE76-1", "url": "https://www.uniprot.org/uniprot/A0A8I6AE76-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3ZKU7", "url": "https://www.uniprot.org/uniprot/D3ZKU7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3ZKU7-1", "url": "https://www.uniprot.org/uniprot/D3ZKU7-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": 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