{ "uniprot_canonical_ac": "O14617-1", "uniprot_ac": "O14617", "uniprot_id": "AP3D1_HUMAN", "mass": { "chemical_mass": 130158.0, "monoisotopic_mass": 130158.0 }, "refseq": { "ac": "NP_001248755", "name": "AP-3 complex subunit delta-1 isoform 3", "summary": "The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248755" }, "gene_names": [ { "name": "AP3D1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14617", "id": "O14617" }, { "name": "ADTD; hBLVR; HPS10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248755", "id": "NP_001248755" }, { "name": "AP3D1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248755", "id": "NP_001248755" }, { "name": "PRO0039", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14617", "id": "O14617" } ], "protein_names": [ { "name": "AP-3 complex subunit delta-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14617" }, { "name": "AP-3 complex subunit delta-1 isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248755", "id": "NP_001248755" }, { "name": "AP-3 complex subunit delta-1; delta adaptin; AP-3 complex delta subunit, partial CDS; subunit of putative vesicle coat adaptor complex AP-3; adapter-related protein complex 3 subunit delta-1; adaptor related protein complex 3 delta 1 subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248755", "id": "NP_001248755" }, { "name": "AP-3 complex subunit delta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14617" }, { "name": "Adaptor-related protein complex 3 subunit delta-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14617" }, { "name": "Delta-adaptin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14617" } ], "function": [ { "annotation": "A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into endosome-derived tubular transport carriers.", "evidence": [ { "database": "RefSeq", "id": "NP_001248755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248755" }, { "database": "PubMed", "id": "33886957", "url": "https://glygen.org/publication/PubMed/33886957" } ] }, { "annotation": "A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.", "evidence": [ { "database": "RefSeq", "id": "NP_001248755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248755" }, { "database": "PubMed", "id": "36445457", "url": "https://glygen.org/publication/PubMed/36445457" } ] }, { "annotation": "Connecting COPD GWAS Genes: FAM13A Controls TGFbeta2 Secretion by Modulating AP-3 Transport.", "evidence": [ { "database": "RefSeq", "id": "NP_001248755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248755" }, { "database": "PubMed", "id": "34166600", "url": "https://glygen.org/publication/PubMed/34166600" } ] }, { "annotation": "Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. Involved in process of CD8+ T-cell and NK cell degranulation (PubMed:26744459). In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617#function" }, { "database": "UniProtKB", "id": "O54774", "url": "https://www.uniprot.org/uniprot/O54774#function" }, { "database": "PubMed", "id": "26744459", "url": "https://glygen.org/publication/PubMed/26744459" }, { "database": "UniProtKB", "id": "A0A8V8TQW4", "url": "https://www.uniprot.org/uniprot/A0A8V8TQW4#function" }, { "database": "UniProtKB", "id": "PIRNR037092", "url": "https://www.uniprot.org/uniprot/PIRNR037092#function" } ] }, { "annotation": "The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_001248755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248755" } ] }, { "annotation": "We further demonstrated an abnormal storage pathway in the platelets. The current study represents a second confirmation report and implicates AP3D1 mutations as a cause of Hermansky-Pudlak Syndrome type 10.", "evidence": [ { "database": "RefSeq", "id": "NP_001248755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248755" }, { "database": "PubMed", "id": "30472485", "url": "https://glygen.org/publication/PubMed/30472485" } ] } ], "disease": [ { "disease_id": "MONDO:0014885", "recommended_name": { "id": "MONDO:0014885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014885", "name": "Hermansky-Pudlak syndrome 10", "description": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene." }, "synonyms": [ { "id": "MONDO:0014885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014885", "name": "AP3D1 Hermansky-Pudlak syndrome", "description": "" }, { "id": "MONDO:0014885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014885", "name": "HPS10", "description": "" }, { "id": "MONDO:0014885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014885", "name": "Hermansky-Pudlak syndrome 10", "description": "" }, { "id": "MONDO:0014885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014885", "name": "Hermansky-Pudlak syndrome 10; HPS10", "description": "" }, { "id": "MONDO:0014885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014885", "name": "Hermansky-Pudlak syndrome caused by mutation in AP3D1", "description": "" }, { "id": "MONDO:0014885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014885", "name": "Hermansky-Pudlak syndrome type 10", "description": "" }, { "id": "MIM:617050", "resource": "MIM", "url": "https://www.omim.org/entry/617050", "name": "Hermansky-Pudlak syndrome 10", "description": "Hermansky-Pudlak syndrome 10" } ], "evidence": [ { "id": "617050", "database": "MIM", "url": "https://www.omim.org/entry/617050" } ] } ], "snv": [ { "evidence": [ { "id": "O14617", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14617" } ], "glycoeffect": [], "start_pos": 205, "end_pos": 205, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "2129436", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N205", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O14617", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14617" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 216, "end_pos": 216, "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "2129404", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K216", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065000" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "94.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065000" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065000" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "96.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065000" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065000" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "90.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000065000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065000" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "90.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000065000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065000" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065000" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065000" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "85.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000065000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065000" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "93.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065000" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065000" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000065000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065000" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14617", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14617" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": 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"description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14617", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14617" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14617" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "common_name": "Human" } ], "gene": [ { "name": "AP3D1", "url": "https://www.uniprot.org/uniprot/O14617", "locus": { "chromosome": "19", "start_pos": 68481, "end_pos": 17903, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_1207", "url": "https://www.ensembl.org/id/LRG_1207" } ] } } ], "crossref": [ { "id": "ENSG00000065000", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000065000", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O14617", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14617", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "AP3D1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP3D1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8943", "url": "https://www.ncbi.nlm.nih.gov/gene/8943", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "568", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=568", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O14617", "url": "https://www.ebi.ac.uk/intact/interactors/id:O14617*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002553", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002553", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR010474", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010474", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011989", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011989", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016024", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016024", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017105", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017105", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "607246", "url": "http://www.omim.org/entry/607246", "database": "MIM", "categories": [ "Other" ] }, { "id": "617050", "url": "http://www.omim.org/entry/617050", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O14617", "url": "https://www.nextprot.org/entry/NX_O14617", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O14617", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14617", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "CGYDISW", "url": "https://omabrowser.org/oma/group/CGYDISW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2877445at2759", "url": "http://www.orthodb.org/?query=2877445at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR22781", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22781", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR22781:SF12", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22781:SF12", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4AFI", "url": "https://www.rcsb.org/structure/4AFI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01602", "url": "http://pfam.xfam.org/family/PF01602", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF06375", "url": "http://pfam.xfam.org/family/PF06375", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O14617", "url": "https://pharos.nih.gov/targets/O14617", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O14617", "url": "http://purl.obolibrary.org/obo/PR_O14617", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001248755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248755", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WYN6", "url": "https://www.uniprot.org/uniprot/A0A087WYN6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WYN6-1", "url": "https://www.uniprot.org/uniprot/A0A087WYN6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y4J3", "url": "https://www.uniprot.org/uniprot/A0A2R8Y4J3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y4J3-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y4J3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YCY8", "url": "https://www.uniprot.org/uniprot/A0A2R8YCY8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YCY8-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YCY8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQW4", "url": "https://www.uniprot.org/uniprot/A0A8V8TQW4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TQW4-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TQW4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ELX8", "url": "https://www.uniprot.org/uniprot/K7ELX8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ELX8-1", "url": "https://www.uniprot.org/uniprot/K7ELX8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERW8", "url": "https://www.uniprot.org/uniprot/K7ERW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERW8-1", "url": "https://www.uniprot.org/uniprot/K7ERW8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14617-1", "url": "https://www.uniprot.org/uniprot/O14617-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14617-2", "url": "https://www.uniprot.org/uniprot/O14617-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14617-3", "url": "https://www.uniprot.org/uniprot/O14617-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14617-4", "url": "https://www.uniprot.org/uniprot/O14617-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14617-5", "url": "https://www.uniprot.org/uniprot/O14617-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDNIAVKANAVCKLTYLQMLGYDISWAAFNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIRKDLSSPSQYDTGVALTGLSCFVTPDLARDLANDIMTLMSHTKPYIRKKAVLIMYKVFLKYPESLRPAFPRLKEKLEDPDPGVQSAAVNVICELARRNPKNYLSLAPLFFKLMTSSTNNWVLIKIIKLFGALTPLEPRLGKKLIEPLTNLIHSTSAMSLLYECVNTVIAVLISLSSGMPNHSASIQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLILQCLDDKDESIRLRALDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYISILVELTRLEGTRHGHLIAAQMLDVAIRVKAIRKFAVSQMSALLDSAHLLASSTQRNGICEVLYAAAWICGEFSEHLQEPHHTLEAMLRPRVTTLPGHIQAVYVQNVVKLYASILQQKEQAGEAEGAQAVTQLMVDRLPQFVQSADLEVQERASCILQLVKHIQKLQAKDVPVAEEVSALFAGELNPVAPKAQKKVPVPEGLDLDAWINEPLSDSESEDERPRAVFHEEEQRRPKHRPSEADEEELARRREARKQEQANNPFYIKSSPSPQKRYQDTPGVEHIPVVQIDLSVPLKVPGLPMSDQYVKLEEERRHRQKLEKDKRRKKRKEKEKKGKRRHSSLPTESDEDIAPAQQVDIVTEEMPENALPSDEDDKDPNDPYRALDIDLDKPLADSEKLPIQKHRNTETSKSPEKDVPMVEKKSKKPKKKEKKHKEKERDKEKKKEKEKKKSPKPKKKKHRKEKEERTKGKKKSKKQPPGSEEAAGEPVQNGAPEEEQLPPESSYSLLAENSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSILKGMELSVLDSLNARMARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVMAQKLKGTLSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGDLSMSSIKVDGIRMSFQNLLAKICFHHHFSVVERVDSCASMYSRSIQGHHVCLLVKKGENSVSVDGKCSDSTLLSNLLEEMKATLAKC", "length": 1153, "header": "sp|O14617-1|AP3D1_HUMAN Isoform 1 of AP-3 complex subunit delta-1 OS=Homo sapiens OX=9606 GN=AP3D1 PE=1 SV=1 CANONICAL=O14617-1" }, "isoforms": [ { "isoform_ac": "A0A087WYN6-1", "url": "", "sequence": { "sequence": "XLKYPESLRPAFPRLKEKLEDPDPGVQSAAVNVICELARRNPKNYLSLAPLFFKLMTSSTNNWVLIKIIKLFGALTPLEPRLGKKLIEPLTNLIHSAHLAVLRHAQPQRQHPALCSEIKDIDRGLRSELEVPGAAGNVQDPEDPPQVRAVPQGPHPAVPGRQGRVHPAAGPGPALWDGVQEEPDGDREEADDPRRQGRGYHLP", "length": 203, "header": "tr|A0A087WYN6-1|A0A087WYN6_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit delta 1 OS=Homo sapiens OX=9606 GN=AP3D1 PE=1 SV=1 CANONICAL=O14617-1" }, "locus": { "chromosome": "19", "start_pos": 2130478, "end_pos": 2121233, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590683.2", "url": "https://www.ensembl.org/id/ENST00000590683.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000481961.1", "url": "https://www.ensembl.org/id/ENSP00000481961.1" } ] } }, { "isoform_ac": "A0A2R8Y4J3-1", "url": "", "sequence": { "sequence": "MLGYDISWAAFNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIRKDLSSPSQYDTGVALTGLSCFVTPDLARDLANDIMTLMSHTKPYIRKKAVLIMYKVFLKYPESLRPAFPRLKEKLEDPDPGVQSAAVNVICELARRNPKNYLSLAPLFFKLMTSSTNNWVLIKIIKLFGALTPLEPRLGKKLIEPLTNLIHSTSAMSLLYECVNTVIAVLISLSSGMPNHSASIQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLILQCLDDKDESIRLRALDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYISILVELTRLEGTRHGHLIAAQMLDVAIRVKAIRKFAVSQMSALLDSAHLLASSTQRNGICEVLYAAAWICGEFSEHLQ", "length": 431, "header": "tr|A0A2R8Y4J3-1|A0A2R8Y4J3_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit delta 1 OS=Homo sapiens OX=9606 GN=AP3D1 PE=1 SV=1 CANONICAL=O14617-1" }, "locus": { "chromosome": "19", "start_pos": 2137801, "end_pos": 2118823, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643010.1", "url": "https://www.ensembl.org/id/ENST00000643010.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494100.1", "url": "https://www.ensembl.org/id/ENSP00000494100.1" } ] } }, { "isoform_ac": "A0A2R8YCY8-1", "url": "", "sequence": { "sequence": "MLGYDISWAAFNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIRKNINPENGSW", "length": 61, "header": "tr|A0A2R8YCY8-1|A0A2R8YCY8_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit delta 1 OS=Homo sapiens OX=9606 GN=AP3D1 PE=1 SV=1 CANONICAL=O14617-1" }, "locus": { "chromosome": "19", "start_pos": 2137801, "end_pos": 2133458, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000591284.2", "url": "https://www.ensembl.org/id/ENST00000591284.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000493531.1", "url": "https://www.ensembl.org/id/ENSP00000493531.1" } ] } }, { "isoform_ac": "A0A8V8TQW4-1", "url": "", "sequence": { "sequence": "MALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDNIAVKANAVCKLTYLQMLGYDISWAAFNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIRKDLSSPSQYDTGVALTGLSCFVTPDLARDLANDIMTLMSHTKPYIRKKAVLIMYKVFLKYPESLRPAFPRLKEKLEDPDPGVQSAAVNVICELARRNPKNYLSLAPLFFKLMTSSTNNWVLIKIIKLFGALTPLEPRLGKKLIEPLTNLIHSTSAMSLLYECVNTVIAVLISLSSGMPNHSASIQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLILQCLDDKDESIRLRALDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYISILVELTRLEGTRHGHLIAAQMLDVAIRVKAIRKFAVSQMSALLDSAHLLASSTQRNGICEVLYAAAWICGEFSEHLQEPHHTLEAMLRPRVTTLPGHIQAVYVQNVVKLYASILQQKEQAGEAEGAQAVTQLMVDRLPQFVQSADLEVQERASCILQLVKHIQKLQAKDVPVAEEVSALFAGELNPVAPKAQKKVPVPEGLDLDAWINEPLSDSESEDERPRAVFHEEEQRRPKHRPSEADEEELARRREARKQEQANNPFYIKSSPSPQKRYQDTPGVEHIPVVQIDLSVPLKVPGLPMSDQYVKLEEERRHRQKLEKDKRRKKRKEKEKKGKRRHSSLPTESDEDIAPAQQVDIVTEEMPENALPSDEDDKDPNDPYRALDIDLDKPLADSEKLPIQKHRNTETSKSPEKDVPMVEKKSKKPKKKEKKHKEKERDKEKKKEKEKKAEDLDFWLSTTPPPAPAPAPAPVPSTDECEDAKTEAQGEEDDAEGQDQDKKSPKPKKKKHRKEKEERTKGKKKSKKQPPGSEEAAGEPVQNGAPEEEQLPPESSYSLLAENSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSILKGMELSVLDSLNARMARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVMAQKLKGTLSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGDLSMSSIKVDGIRMSFQNLLAKICFHHHFSVVERVDSCASMYSRSIQGHHVCLLVKKGENSVSVDGKCSDSTLLSNLLEEMKATLAKC", "length": 1203, "header": "tr|A0A8V8TQW4-1|A0A8V8TQW4_HUMAN Computationally mapped isoform of AP-3 complex subunit delta OS=Homo sapiens OX=9606 GN=AP3D1 PE=1 SV=1 CANONICAL=O14617-1" }, "locus": { "chromosome": "19", "start_pos": 2151334, "end_pos": 2102176, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700387.1", "url": "https://www.ensembl.org/id/ENST00000700387.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514969.1", "url": "https://www.ensembl.org/id/ENSP00000514969.1" } ] } }, { "isoform_ac": "K7ELX8-1", "url": "", "sequence": { "sequence": "XELSVLDSLNARMARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVMAQKLKGTLSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGDLSMSSIKVDGIRMSFQNLLAKICFHHHFSGLLKLWPRAAQEGGPCSGGGAAAMQCPGSLTLPALLQLWSEWTPAPPCTAAPSRATMSASW", "length": 193, "header": "tr|K7ELX8-1|K7ELX8_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit delta 1 OS=Homo sapiens OX=9606 GN=AP3D1 PE=1 SV=1 CANONICAL=O14617-1" }, "locus": { "chromosome": "19", "start_pos": 2110805, "end_pos": 2108694, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589369.2", "url": "https://www.ensembl.org/id/ENST00000589369.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000466267.1", "url": "https://www.ensembl.org/id/ENSP00000466267.1" } ] } }, { "isoform_ac": "K7ERW8-1", "url": "", "sequence": { "sequence": "ESSYSLLAENSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSILKGMELSVLDSLNARMARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVMAQKLKGTLSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYRIFWRRSVFTTIFPLWSEWTPAPPCTAAPSRATMSASW", "length": 174, "header": "tr|K7ERW8-1|K7ERW8_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit delta 1 OS=Homo sapiens OX=9606 GN=AP3D1 PE=1 SV=2 CANONICAL=O14617-1" }, "locus": { "chromosome": "19", "start_pos": 2111329, "end_pos": 2108695, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586370.6", "url": "https://www.ensembl.org/id/ENST00000586370.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000468449.2", "url": "https://www.ensembl.org/id/ENSP00000468449.2" } ] } }, { "isoform_ac": "O14617-1", "url": "", "sequence": { "sequence": "MALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDNIAVKANAVCKLTYLQMLGYDISWAAFNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIRKDLSSPSQYDTGVALTGLSCFVTPDLARDLANDIMTLMSHTKPYIRKKAVLIMYKVFLKYPESLRPAFPRLKEKLEDPDPGVQSAAVNVICELARRNPKNYLSLAPLFFKLMTSSTNNWVLIKIIKLFGALTPLEPRLGKKLIEPLTNLIHSTSAMSLLYECVNTVIAVLISLSSGMPNHSASIQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLILQCLDDKDESIRLRALDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYISILVELTRLEGTRHGHLIAAQMLDVAIRVKAIRKFAVSQMSALLDSAHLLASSTQRNGICEVLYAAAWICGEFSEHLQEPHHTLEAMLRPRVTTLPGHIQAVYVQNVVKLYASILQQKEQAGEAEGAQAVTQLMVDRLPQFVQSADLEVQERASCILQLVKHIQKLQAKDVPVAEEVSALFAGELNPVAPKAQKKVPVPEGLDLDAWINEPLSDSESEDERPRAVFHEEEQRRPKHRPSEADEEELARRREARKQEQANNPFYIKSSPSPQKRYQDTPGVEHIPVVQIDLSVPLKVPGLPMSDQYVKLEEERRHRQKLEKDKRRKKRKEKEKKGKRRHSSLPTESDEDIAPAQQVDIVTEEMPENALPSDEDDKDPNDPYRALDIDLDKPLADSEKLPIQKHRNTETSKSPEKDVPMVEKKSKKPKKKEKKHKEKERDKEKKKEKEKKKSPKPKKKKHRKEKEERTKGKKKSKKQPPGSEEAAGEPVQNGAPEEEQLPPESSYSLLAENSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSILKGMELSVLDSLNARMARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVMAQKLKGTLSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGDLSMSSIKVDGIRMSFQNLLAKICFHHHFSVVERVDSCASMYSRSIQGHHVCLLVKKGENSVSVDGKCSDSTLLSNLLEEMKATLAKC", "length": 1153, "header": "sp|O14617-1|AP3D1_HUMAN Isoform 1 of AP-3 complex subunit delta-1 OS=Homo sapiens OX=9606 GN=AP3D1 PE=1 SV=1 CANONICAL=O14617-1" }, "locus": { "chromosome": "19", "start_pos": 2151334, "end_pos": 2102176, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000345016.9", "url": "https://www.ensembl.org/id/ENST00000345016.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000344055.4", "url": "https://www.ensembl.org/id/ENSP00000344055.4" } ] } }, { "isoform_ac": "O14617-2", "url": "", "sequence": { "sequence": "MALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDNIAVKANAVCKLTYLQMLGYDISWAAFNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIRKDLSSPSQYDTGVALTGLSCFVTPDLARDLANDIMTLMSHTKPYIRKKAVLIEPLTNLIHSTSAMSLLYECVNTVIAVLISLSSGMPNHSASIQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLILQCLDDKDESIRLRALDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYISILVELTRLEGTRHGHLIAAQMLDVAIRVKAIRKFAVSQMSALLDSAHLLASSTQRNGICEVLYAAAWICGEFSEHLQEPHHTLEAMLRPRVTTLPGHIQAVYVQNVVKLYASILQQKEQAGEAEGAQAVTQLMVDRLPQFVQSADLEVQERASCILQLVKHIQKLQAKDVPVAEEVSALFAGELNPVAPKAQKKVPVPEGLDLDAWINEPLSDSESEDERPRAVFHEEEQRRPKHRPSEADEEELARRREARKQEQANNPFYIKSSPSPQKRYQDTPGVEHIPVVQIDLSVPLKVPGLPMSDQYVKLEEERRHRQKLEKDKRRKKRKEKEKKGKRRHSSLPTESDEDIAPAQQVDIVTEEMPENALPSDEDDKDPNDPYRALDIDLDKPLADSEKLPIQKHRNTETSKSPEKDVPMVEKKSKKPKKKEKKHKEKERDKEKKKEKEKKAEDLDFWLSTTPPPAPAPAPAPVPSTDECEDAKTEAQGEEDDAEGQDQDKKSPKPKKKKHRKEKEERTKGKKKSKKQPPGSEEAAGEPVQNGAPEEEQLPPESSYSLLAENSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSILKGMELSVLDSLNARMARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVMAQKLKGTLSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGDLSMSSIKVDGIRMSFQNLLAKICFHHHFSVVERVDSCASMYSRSIQGHHVCLLVKKGENSVSVDGKCSDSTLLSNLLEEMKATLAKC", "length": 1112, "header": "sp|O14617-2|AP3D1_HUMAN Isoform 2 of AP-3 complex subunit delta-1 OS=Homo sapiens OX=9606 GN=AP3D1 PE=1 SV=1 CANONICAL=O14617-1" }, "locus": {} }, { "isoform_ac": "O14617-3", "url": "", "sequence": { "sequence": "MALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDNIAVKANAVCKLTYLQMLGYDISWAAFNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIVLISLSSGMPNHSASIQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLILQCLDDKDESIRLRALDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYISILVELTRLEGTRHGHLIAAQMLDVAIRVKAIRKFAVSQMSALLDSAHLLASSTQRNGICEVLYAAAWICGEFSEHLQEPHHTLEAMLRPRVTTLPGHIQAVYVQNVVKLYASILQQKEQAGEAEGAQAVTQLMVDRLPQFVQSADLEVQERASCILQLVKHIQKLQAKDVPVAEEVSALFAGELNPVAPKAQKKVPVPEGLDLDAWINEPLSDSESEDERPRAVFHEEEQRRPKHRPSEADEEELARRREARKQEQANNPFYIKSSPSPQKRYQDTPGVEHIPVVQIDLSVPLKVPGLPMSDQYVKLEEERRHRQKLEKDKRRKKRKEKEKKGKRRHSSLPTESDEDIAPAQQVDIVTEEMPENALPSDEDDKDPNDPYRALDIDLDKPLADSEKLPIQKHRNTETSKSPEKDVPMVEKKSKKPKKKEKKHKEKERDKEKKKEKEKKKSPKPKKKKHRKEKEERTKGKKKSKKQPPGSEEAAGEPVQNGAPEEEQLPPESSYSLLAENSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSILKGMELSVLDSLNARMARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVMAQKLKGTLSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGDLSMSSIKVDGIRMSFQNLLAKICFHHHFSVVERVDSCASMYSRSIQGHHVCLLVKKGENSVSVDGKCSDSTLLSNLLEEMKATLAKC", "length": 984, "header": "sp|O14617-3|AP3D1_HUMAN Isoform 3 of AP-3 complex subunit delta-1 OS=Homo sapiens OX=9606 GN=AP3D1 PE=1 SV=1 CANONICAL=O14617-1" }, "locus": {} }, { "isoform_ac": "O14617-4", "url": "", "sequence": { "sequence": "MALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDNIAVKANAVCKLTYLQMLGYDISWAAFNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIRKDLSSPSQYDTGVALTGLSCFVTPDLARDLANDIMTLMSHTKPYIRKKAVLIMYKVFLKYPESLRPAFPRLKEKLEDPDPGVQSAAVNVICELARRNPKNYLSLAPLFFKLMTSSTNNWVLIKIIKLFGALTPLEPRLGKKLIEPLTNLIHSTSAMSLLYECVNTVIAVLISLSSGMPNHSASIQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLILQCLDDKDESIRLRALDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYISILVELTRLEGTRHGHLIAAQMLDVAIRVKAIRKFAVSQMSALLDSAHLLASSTQRNGICEVLYAAAWICGEFSEHLQEPHHTLEAMLRPRVTTLPGHIQAVYVQNVVKLYASILQQKEQAGEAEGAQAVTQLMVDRLPQFVQSADLEVQERASCILQLVKHIQKLQAKDVPVAEEVSALFAGELNPVAPKAQKKVPVPEGLDLDAWINEPLSDSESEDERPRAVFHEEEQRRPKHRPSEADEEELARRREARKQEQANNPFYIKSSPSPQKRYQDTPGVEHIPVVQIDLSVPLKVPGLPMSDQYVKLEEERRHRQKLEKDKRRKKRKEKEERTKGKKKSKKQPPGSEEAAGEPVQNGAPEEEQLPPESSYSLLAENSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSILKGMELSVLDSLNARMARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVMAQKLKGTLSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGDLSMSSIKVDGIRMSFQNLLAKICFHHHFSVVERVDSCASMYSRSIQGHHVCLLVKKGENSVSVDGKCSDSTLLSNLLEEMKATLAKC", "length": 1021, "header": "sp|O14617-4|AP3D1_HUMAN Isoform 4 of AP-3 complex subunit delta-1 OS=Homo sapiens OX=9606 GN=AP3D1 PE=1 SV=1 CANONICAL=O14617-1" }, "locus": {} }, { "isoform_ac": "O14617-5", "url": "", "sequence": { "sequence": "MALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDNIAVKANAVCKLTYLQMLGYDISWAAFNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIRKDLSSPSQYDTGVALTGLSCFVTPDLARDLANDIMTLMSHTKPYIRKKAVLIMYKVFLKYPESLRPAFPRLKEKLEDPDPGVQSAAVNVICELARRNPKNYLSLAPLFFKLMTSSTNNWVLIKIIKLFGALTPLEPRLGKKLIEPLTNLIHSTSAMSLLYECVNTVIAVLISLSSGMPNHSASIQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLILQCLDDKDESIRLRALDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYISILVELTRLEGTRHGHLIAAQMLDVAIRVKAIRKFAVSQMSALLDSAHLLASSTQRNGICEVLYAAAWICGEFSEHLQEPHHTLEAMLRPRVTTLPGHIQAVYVQNVVKLYASILQQKEQAGEAEGAQAVTQLMVDRLPQFVQSADLEVQERASCILQLVKHIQKLQAKDVPVAEEVSALFAGELNPVAPKAQKKVPVPEGLDLDAWINEPLSDSESEDERPRAVFHEEEQRRPKHRPSEADEEELARRREARKQEQANNPFYIKSSPSPQKRYQDTPGVEHIPVVQIDLSVPLKVPGLPMSDQYVKLEEERRHRQKLEKDKRRKKRKEKEKKGKRRHSSLPTESDEDIAPAQQVDIVTEEMPENALPSDEDDKDPNDPYRALDIDLDKPLADSEKLPIQKHRNTETSKSPEKDVPMVEKKSKKPKKKEKKHKEKERDKEKKKEKEKKAEDLDFWLSTTPPPAPAPAPAPVPSTGELSVNTVTTPKDECEDAKTEAQGEEDDAEGQDQDKKSPKPKKKKHRKEKEERTKGKKKSKKQPPGSEEAAGEPVQNGAPEEEQLPPESSYSLLAENSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSILKGMELSVLDSLNARMARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVMAQKLKGTLSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGDLSMSSIKVDGIRMSFQNLLAKICFHHHFSVVERVDSCASMYSRSIQGHHVCLLVKKGENSVSVDGKCSDSTLLSNLLEEMKATLAKC", "length": 1215, "header": "sp|O14617-5|AP3D1_HUMAN Isoform 5 of AP-3 complex subunit delta-1 OS=Homo sapiens OX=9606 GN=AP3D1 PE=1 SV=1 CANONICAL=O14617-1" }, "locus": { "chromosome": "19", "start_pos": 2151334, "end_pos": 2102176, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643116.3", "url": "https://www.ensembl.org/id/ENST00000643116.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000495274.2", "url": "https://www.ensembl.org/id/ENSP00000495274.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O14617", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14617" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 1032, "end_pos": 1032, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14617", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14617" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr1032" }, { "start_pos": 1043, "end_pos": 1043, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14617", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14617" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Ser1043" }, { "start_pos": 230, "end_pos": 230, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14617", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14617" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Thr230" }, { "start_pos": 369, "end_pos": 369, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14617", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14617" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser369" }, { "start_pos": 632, "end_pos": 632, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O14617", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14617" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "O14617", "url": "http://phospho.elm.eu.org/byAccession/O14617.html" } ], "site_lbl": "Ser632" }, { "start_pos": 634, "end_pos": 634, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O14617", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14617" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "O14617", "url": "http://phospho.elm.eu.org/byAccession/O14617.html" } ], "site_lbl": "Ser634" }, { "start_pos": 636, "end_pos": 636, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O14617", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14617" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "O14617", "url": "http://phospho.elm.eu.org/byAccession/O14617.html" } ], "site_lbl": "Ser636" }, { "start_pos": 658, "end_pos": 658, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O14617", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14617" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser658" }, { "start_pos": 685, "end_pos": 685, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14617", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14617" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O14617", "url": "http://phospho.elm.eu.org/byAccession/O14617.html" } ], "site_lbl": "Ser685" }, { "start_pos": 686, "end_pos": 686, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14617", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14617" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O14617", "url": "http://phospho.elm.eu.org/byAccession/O14617.html" } ], "site_lbl": "Ser686" }, { "start_pos": 688, "end_pos": 688, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": 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Cell. Physiol.", "date": "2015", "authors": "Hennigar SR, Kelleher SL", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "reference": [ { "type": "PubMed", "id": "25808614", "url": "https://glygen.org/publication/PubMed/25808614" } ] }, { "title": "Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.", "journal": "Blood", "date": "2016", "authors": "Ammann S, Schulz A, Krageloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmuller J, Thiele H, Nurnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths GM, Lehmberg K, Hennies HC, Ehl S", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "reference": [ { "type": "PubMed", "id": "26744459", "url": "https://glygen.org/publication/PubMed/26744459" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O14617", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14617" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.", "journal": "European journal of medical genetics", "date": "2019", "authors": "Mohammed M, Al-Hashmi N, Al-Rashdi S, Al-Sukaiti N, Al-Adawi K, Al-Riyami M, Al-Maawali A", "evidence": [ { "database": "RefSeq", "id": "NP_001248755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248755" } ], "reference": [ { "type": "PubMed", "id": "30472485", "url": "https://glygen.org/publication/PubMed/30472485" } ] }, { "title": "A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into endosome-derived tubular transport carriers.", "journal": "The Journal of cell biology", "date": "2021", "authors": "Bowman SL, Le L, Zhu Y, Harper DC, Sitaram A, Theos AC, Sviderskaya EV, Bennett DC, Raposo-Benedetti G, Owen DJ, Dennis MK, Marks MS", "evidence": [ { "database": "RefSeq", "id": "NP_001248755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248755" } ], "reference": [ { "type": "PubMed", "id": "33886957", "url": "https://glygen.org/publication/PubMed/33886957" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O14617", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14617" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Connecting COPD GWAS Genes: FAM13A Controls TGFbeta2 Secretion by Modulating AP-3 Transport.", "journal": "American journal of respiratory cell and molecular biology", "date": "2021", "authors": "Gong L, Bates S, Li J, Qiao D, Glass K, Wei W, Hsu VW, Zhou X, Silverman EK", "evidence": [ { "database": "RefSeq", "id": "NP_001248755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248755" } ], "reference": [ { "type": "PubMed", "id": "34166600", "url": "https://glygen.org/publication/PubMed/34166600" } ] }, { "title": "A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.", "journal": "Human genetics", "date": "2023-08", "authors": "Frohne Alexandra, Koenighofer Martin, Cetin Hakan, Nieratschker Michael, Liu David T, Laccone Franco, Neesen Juergen, Nemec Stefan F, Schwarz-Nemec Ursula, Schoefer Christian, Avraham Karen B, Frei Klemens, Grabmeier-Pfistershammer Katharina, Kratzer Bernhard, Schmetterer Klaus, Pickl Winfried F, Parzefall Thomas", "evidence": [ { "database": "RefSeq", "id": "NP_001248755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248755" } ], "reference": [ { "type": "PubMed", "id": "36445457", "url": "https://glygen.org/publication/PubMed/36445457" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O14617", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14617" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Characterization of the adaptor-related protein complex, AP-3.", "journal": "J. Cell Biol.", "date": "1997", "authors": "Simpson F, Peden AA, Christopoulou L, Robinson MS", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "reference": [ { "type": "PubMed", "id": "9151686", "url": "https://glygen.org/publication/PubMed/9151686" } ] }, { "title": "Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet.", "journal": "EMBO J.", "date": "1997", "authors": "Ooi CE, Moreira JE, Dell'Angelica EC, Poy G, Wassarman DA, Bonifacino JS", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "reference": [ { "type": "PubMed", "id": "9303295", "url": "https://glygen.org/publication/PubMed/9303295" } ] } ], "pathway": [], "orthologs": [ { "uniprot_canonical_ac": "B5DFK6-1", "protein_name": "Adaptor related protein complex 3 subunit delta 1", "gene_name": "Ap3d1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDNIAVKANAVCKLTYLQMLGYDISWAAFNIIEVMSASKFTFKRVGYLAASQCFHEGTDVIMLTTNQIRKDLSSPSQYDTGVALTGLSCFVTPDLARDLANDIMTLMSHTKPYIRKKAVLIMYKVFLKYPESLRPAFPRLKEKLEDPDPGVQSAAVNVICELARRNPKNYLSLAPLFFKLMTSSTNNWVLIKIIKLFGALTPLEPRLGKKLIEPLTNLIHSTSAMSLLYECVNTVIAVLISLSSGMPNHSASIQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLILQCLDDKDESIRLRALDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQHITNFEWYISILVELTRLEGTRHGHLIAAQMLDVAIRVKAIRKFAVSQMSSLLDSAHLVASSTQRNGICEVLYAAAWICGEFSEHLQGPQQTLEAMLRPKVTTLPGHIQAVYVQNVVKLYASILQQKEQAADTEGAQEVTQLLVERLPQFVQSADLEVQERASCILQLVKHVQKLQAKGVPVAEEVSALFAGELNPVAPKAQKKVPVPEGLDLDAWINEPPSDSESEDEKPKAIFHEEEPRHTRRRQPEEDEEELARRREARKQEQANNPFYIKSSPSPQKRYQDAPGVEHIPVVQIDLSVPLKVPGMPMSDQYVKLEEQRRHRQRLEKDKKRKKKEKGKRRHSSLPTESDEDIAPAQRVDIITEEMPENALPSDEDDKDPNDPYRALDIDLDKPLADSEKLPVQKHRNAETVKSPEKEGVPGVEKKSKKPKKKEKKPKEREREKKDKKGEDLDFWLSTTPPPAAAPVPAPSTEGLAASIVTPPKGECEVLKGEEPQDEEDHMDHDQERKSSRHKKKKHRKEKEERPRDKKKAKRKQVVQLENGAPAEEEEEEEEPIPPMSSYCLLAENPYIKVTYDVQASLQKDSQVTVSIILENQSSSFLKNMELNVLDSLNTKMARPEGSSVHDGVPVPFQLPPGVSNEAQFVFTIQSIVMAQKLKGTLSFIAKDDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGDLSMNSIKVDGISISFQNLLAKICFYHHFSVVERVDSCASMYSRSIQGHHVCLLVKKGESSVSVDGKCSDATLLSSLLEEMKTTLSQC", "length": 1204 }, "evidence": [ { "id": "45921090", "url": "http://www.informatics.jax.org/homology/45921090", "database": "MGI" }, { "id": "O14617", "url": "https://omabrowser.org/oma/group/O14617/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "O54774-1", "protein_name": "AP-3 complex subunit delta-1", "gene_name": "Ap3d1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDNIAVKANAVCKLTYLQMLGYDISWAAFNIIEVMSASKFTFKRVGYLAASQCFHEGTDVIMLTTNQIRKDLSSPSQYDTGVALTGLSCFVTPDLARDLANDIMTLMSHTKPYIRKKAVLIMYKVFLKYPESLRPAFPRLKEKLEDPDPGVQSAAVNVICELARRNPKNYLSLAPLFFKLMTSSTNNWVLIKIIKLFGALTPLEPRLGKKLIEPLTNLIHSTSAMSLLYECVNTVIAVLISLSSGMPNHSASIQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLILQCLDDKDESIRLRALDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQHITNFEWYISILVELTRLEGTRHGHLIAAQMLDVAIRVKAIRKFAVSQMSSLLDSAHLVASSTQRNGICEVLYAAAWICGEFSEHLQGPQQTLEAMLRPKVTTLPGHIQAVYVQNVVKLYASILQQKEQAADTEAAQEVTQLLVERLPQFVQSADLEVQERASCILQLVKHVQKLQAKGVPVAEEVSALFAGELNPVAPKAQKKVPVPEGLDLDAWINEPPSDSESEDEKPKAIFHEEEPRHTRRRQPEEDEEELARRREARKQEQANNPFYIKSSPSPQKRYQDAPGVEHIPVVQIDLSVPLKVPGMPMSDQYVKLEEQRRHRQRLEKDKKRKKKEKGKRRHSSLPTESDEDIAPAQRVDIITEEMPENALPSDEDDKDPNDPYRALDIDLDKPLADSEKLPVQKHRNAEAVKSPEKEGVLGVEKKSKKPKKKEKKTKEREREKKDKKGEDLDFWLSTTPPPAAAPIPAPSTEELAASTITSPKDECEVLKGEEEDHVDHDQERKSSRHKKKKHRKEKEKEERPRDKKKAKKKQVAPLENGAAAEEEEEPIPPMSSYCLLAESPYIKVTYDIQASLQKDSQVTVSIILENQSSSFLKNMELNVLDSLNTKMTRPEGSSVHDGVPVPFQLPPGVSNEAQFVFTIQSIVMAQKLKGTLSFIAKDDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGDLSMNSIKVDGISMSFQNLLAKICFYHHFSVVERVDSCASMYSRSIQGHHVCLLVKKGESSVSVDGKCSDATLLSSLLEEMKTTLAQC", "length": 1199 }, "evidence": [ { "id": "45921090", "url": "http://www.informatics.jax.org/homology/45921090", "database": "MGI" }, { "id": "O14617", "url": "https://omabrowser.org/oma/group/O14617/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 12, "go_terms": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "AP-3 adaptor complex", "id": "GO:0030123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030123", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "presynaptic endosome", "id": "GO:0098830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098830", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 22, "go_terms": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "melanosome assembly", "id": "GO:1903232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903232", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "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": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "platelet dense granule organization", "id": "GO:0060155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060155", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "anterograde axonal transport", "id": "GO:0008089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008089", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "synaptic vesicle budding from endosome", "id": "GO:0016182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016182", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "melanosome organization", "id": "GO:0032438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032438", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "endosome to melanosome transport", "id": "GO:0035646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035646", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "antigen processing and presentation, exogenous lipid antigen via MHC class Ib", "id": "GO:0048007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048007", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "anterograde synaptic vesicle transport", "id": "GO:0048490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048490", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "synaptic vesicle membrane organization", "id": "GO:0048499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048499", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "positive regulation of NK T cell differentiation", "id": "GO:0051138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051138", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "protein localization to membrane", "id": "GO:0072657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072657", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "neurotransmitter receptor transport, postsynaptic endosome to lysosome", "id": "GO:0098943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098943", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "intracellular transport", "id": "GO:0046907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046907", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "synaptic vesicle recycling", "id": "GO:0036465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036465", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "protein targeting to vacuole", "id": "GO:0006623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006623", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "Golgi to vacuole transport", "id": "GO:0006896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006896", "evidence": [ { "database": "UniProtKB", "id": "O14617", "url": "https://www.uniprot.org/uniprot/O14617" } ], "pmid": "" }, { "name": "synaptic vesicle 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