{ "uniprot_canonical_ac": "O00203-1", "uniprot_ac": "O00203", "uniprot_id": "AP3B1_HUMAN", "mass": { "chemical_mass": 121320.0, "monoisotopic_mass": 121320.0 }, "refseq": { "ac": "NP_001258698", "name": "AP-3 complex subunit beta-1 isoform 2", "summary": "This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258698" }, "gene_names": [ { "name": "AP3B1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00203", "id": "O00203" }, { "name": "ADTB3; ADTB3A; HPS; HPS2; PE", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258698", "id": "NP_001258698" }, { "name": "ADTB3A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00203", "id": "O00203" }, { "name": "AP3B1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258698", "id": "NP_001258698" } ], "protein_names": [ { "name": "AP-3 complex subunit beta-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00203" }, { "name": "AP-3 complex beta-3A subunit; beta-3A-adaptin; adaptor protein complex AP-3 subunit beta-1; clathrin assembly protein complex 3 beta-1 large chain; adaptor related protein complex 3 beta 1 subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258698", "id": "NP_001258698" }, { "name": "AP-3 complex subunit beta-1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258698", "id": "NP_001258698" }, { "name": "Adaptor protein complex AP-3 subunit beta-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00203" }, { "name": "Adaptor-related protein complex 3 subunit beta-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00203" }, { "name": "Beta-3A-adaptin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00203" }, { "name": "Clathrin assembly protein complex 3 beta-1 large chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00203" } ], "function": [ { "annotation": "Data show that defects in adaptor protein complex 3-dependent maturation of Weibel-Palade bodies impairs exocytosis by affecting the recruitment of VAMP8.", "evidence": [ { "database": "RefSeq", "id": "NP_001258698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258698" }, { "database": "PubMed", "id": "30630984", "url": "https://glygen.org/publication/PubMed/30630984" } ] }, { "annotation": "Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.", "evidence": [ { "database": "RefSeq", "id": "NP_001258698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258698" }, { "database": "PubMed", "id": "33867526", "url": "https://glygen.org/publication/PubMed/33867526" } ] }, { "annotation": "HDL cholesterol concentrations and risk of atherosclerotic cardiovascular disease - Insights from randomized clinical trials and human genetics. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001258698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258698" }, { "database": "PubMed", "id": "34637926", "url": "https://glygen.org/publication/PubMed/34637926" } ] }, { "annotation": "Point mutation c.2702C>G in exon 23 of the AP3B1 gene caused deletion of 112 bp in the mRNA in two siblings. This mutation activates a cryptic donor splice site that overrules the wild-type donor splice site of this exon. Three other novel mutations in AP3B1 were identified, that is, a nonsense mutation c.716G>A (p.Trp239Ter), a 1-bp and a 4-bp deletion c.177delA and c.1839_1842delTAGA, respectively", "evidence": [ { "database": "RefSeq", "id": "NP_001258698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258698" }, { "database": "PubMed", "id": "28585318", "url": "https://glygen.org/publication/PubMed/28585318" } ] }, { "annotation": "Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. 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.", "evidence": [ { "database": "UniProtKB", "id": "O00203", "url": "https://www.uniprot.org/uniprot/O00203#function" }, { "database": "PubMed", "id": "9151686", "url": "https://glygen.org/publication/PubMed/9151686" }, { "database": "UniProtKB", "id": "A0A8Q3WKN2", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKN2#function" }, { "database": "UniProtKB", "id": "ARBA00023570", "url": "https://www.uniprot.org/uniprot/ARBA00023570#function" }, { "database": "UniProtKB", "id": "A0A8Q3WKF8", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKF8#function" }, { "database": "UniProtKB", "id": "A0A8Q3WKK0", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKK0#function" }, { "database": "UniProtKB", "id": "A0A8Q3SHW6", "url": "https://www.uniprot.org/uniprot/A0A8Q3SHW6#function" }, { "database": "UniProtKB", "id": "A0A8Q3SHR2", "url": "https://www.uniprot.org/uniprot/A0A8Q3SHR2#function" }, { "database": "UniProtKB", "id": "A0A8Q3WKI5", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKI5#function" }, { "database": "UniProtKB", "id": "A0A0S2Z4Z4", "url": "https://www.uniprot.org/uniprot/A0A0S2Z4Z4#function" }, { "database": "UniProtKB", "id": "A0A8Q3SHU2", "url": "https://www.uniprot.org/uniprot/A0A8Q3SHU2#function" }, { "database": "UniProtKB", "id": "A0A8Q3WKJ9", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKJ9#function" }, { "database": "UniProtKB", "id": "A0A8Q3SHS3", "url": "https://www.uniprot.org/uniprot/A0A8Q3SHS3#function" }, { "database": "UniProtKB", "id": "A0A8Q3SHS6", "url": "https://www.uniprot.org/uniprot/A0A8Q3SHS6#function" }, { "database": "UniProtKB", "id": "A0A8Q3WL34", "url": "https://www.uniprot.org/uniprot/A0A8Q3WL34#function" }, { "database": "UniProtKB", "id": "A0A8Q3SI03", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI03#function" }, { "database": "UniProtKB", "id": "A0A8Q3SIS1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIS1#function" }, { "database": "UniProtKB", "id": "A0A8Q3SIM7", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIM7#function" } ] }, { "annotation": "This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001258698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258698" } ] } ], "disease": [ { "disease_id": "DOID:0060539", "recommended_name": { "id": "DOID:0060539", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060539", "name": "Hermansky-Pudlak syndrome 1", "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24." }, "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": "203300", "database": "MIM", "url": "https://www.omim.org/entry/203300" } ] }, { "disease_id": "DOID:0060540", "recommended_name": { "id": "DOID:0060540", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060540", "name": "Hermansky-Pudlak syndrome 2", "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1." }, "synonyms": [ { "id": "MONDO:0011997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "name": "Hermansky-Pudlak syndrome 2", "description": "A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." }, { "id": "MONDO:0011997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "name": "AP3B1 Hermansky-Pudlak syndrome", "description": "" }, { "id": "MONDO:0011997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "name": "HPS-2", "description": "" }, { "id": "MONDO:0011997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "name": "HPS2", "description": "" }, { "id": "MONDO:0011997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "name": "Hermansky-Pudlak syndrome 2", "description": "" }, { "id": "MONDO:0011997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "name": "Hermansky-Pudlak syndrome caused by mutation in AP3B1", "description": "" }, { "id": "MONDO:0011997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "name": "Hermansky-Pudlak syndrome type 2", "description": "" }, { "id": "MONDO:0011997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "name": "Hermansky Pudlak syndrome 2", "description": "" }, { "id": "MONDO:0011997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "name": "Hermansky-Pudlak syndrome with neutropenia", "description": "" }, { "id": "MONDO:0011997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "name": "Platelet defects and oculocutaneous albinism", "description": "" }, { "id": "MIM:608233", "resource": "MIM", "url": "https://www.omim.org/entry/608233", "name": "Hermansky-Pudlak syndrome 2", "description": "Hermansky-Pudlak syndrome 2" } ], "evidence": [ { "id": "608233", "database": "MIM", "url": "https://www.omim.org/entry/608233" } ] }, { "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": "203300", "database": "MIM", "url": "https://www.omim.org/entry/203300" } ] } ], "snv": [ { "evidence": [ { "id": "rs758895536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758895536" }, { "id": "rs758895536", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758895536" }, { "id": "rs758895536", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758895536" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1033, "end_pos": 1033, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVG->NVS).", "chr_id": "5", "chr_pos": "78015444", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1033", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00203", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00203" }, { "id": "rs868382649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868382649" }, { "id": "rs868382649", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs868382649" }, { "id": "rs868382649", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868382649" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 171, "end_pos": 171, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NAA->NAS).", "chr_id": "5", "chr_pos": "78227397", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A171", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs989736183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs989736183" }, { "id": "rs989736183", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs989736183#frequency_tab" }, { "id": "rs989736183", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs989736183" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 274, "end_pos": 274, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFY->NFS).", "chr_id": "5", "chr_pos": "78181628", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y274", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00203", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00203" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 31, "end_pos": 31, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "5", "chr_pos": "78294488", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S31", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": 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"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:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer 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"DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs768204199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768204199" }, { "id": "rs768204199", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768204199" }, { "id": "rs768204199", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768204199" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 974, "end_pos": 974, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "5", "chr_pos": "78020763", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N974", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], 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"evidence": [ { "database": "Bgee", "id": "ENSG00000132842", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132842" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132842", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132842" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "90.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132842", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132842" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "82.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000132842", "url": 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}, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "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", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00203", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00203" } ], "disease": [ { "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" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00203", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00203" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00203", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00203" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"url": "https://www.uniprot.org/uniprot/A0A8Q3SHX0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SHX0-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SHX0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SI03", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI03", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SI03-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI03-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIM7", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIM7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIM7-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIM7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIS1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIS1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIS1-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIS1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WKF8", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKF8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WKF8-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKF8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WKI5", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKI5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WKI5-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKI5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WKJ9", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKJ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WKJ9-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKJ9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WKK0", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKK0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WKK0-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKK0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WKN2", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKN2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WKN2-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WKN2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WL34", "url": "https://www.uniprot.org/uniprot/A0A8Q3WL34", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3WL34-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3WL34-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBD0", "url": "https://www.uniprot.org/uniprot/H0YBD0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YBD0-1", "url": "https://www.uniprot.org/uniprot/H0YBD0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00203", "url": "https://www.uniprot.org/uniprot/O00203", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00203-1", "url": "https://www.uniprot.org/uniprot/O00203-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00203-3", "url": "https://www.uniprot.org/uniprot/O00203-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPSVIFQKVVNVANVGAVPSGQDNIHRFAAKTVHSGSLMLVTVELKEGSTAQLIINTEKTVIGSVLLRELKPVLSQG", "length": 1094, "header": "sp|O00203-1|AP3B1_HUMAN Isoform 1 of AP-3 complex subunit beta-1 OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=3 CANONICAL=O00203-1" }, "isoforms": [ { "isoform_ac": "A0A0S2Z4Z4-1", "url": "", "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDCQYSCICTNENSRAASSNEWKRTSCPLFLSKTALHFW", "length": 860, "header": "tr|A0A0S2Z4Z4-1|A0A0S2Z4Z4_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit beta 1 OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78294579, "end_pos": 78039165, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695447.1", "url": "https://www.ensembl.org/id/ENST00000695447.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511917.1", "url": "https://www.ensembl.org/id/ENSP00000511917.1" } ] } }, { "isoform_ac": "A0A8Q3SHP3-1", "url": "", "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELALVSG", "length": 661, "header": "tr|A0A8Q3SHP3-1|A0A8Q3SHP3_HUMAN Computationally mapped isoform of AP complex subunit beta OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78294579, "end_pos": 78121859, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517561.2", "url": "https://www.ensembl.org/id/ENST00000517561.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000511839.1", "url": "https://www.ensembl.org/id/ENSP00000511839.1" } ] } }, { "isoform_ac": "A0A8Q3SHR2-1", "url": "", "sequence": { "sequence": "MLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPSVIFQKVVNVANVGAVPSGQDNIHRYEELNFEAL", "length": 1004, "header": "tr|A0A8Q3SHR2-1|A0A8Q3SHR2_HUMAN Computationally mapped isoform of AP-3 complex subunit beta OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78267576, "end_pos": 78003467, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695455.1", "url": "https://www.ensembl.org/id/ENST00000695455.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511923.1", "url": "https://www.ensembl.org/id/ENSP00000511923.1" } ] } }, { "isoform_ac": "A0A8Q3SHS3-1", "url": "", "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPSVIFQKVVNVANVGAVPSGQDNIHRYEELNFEAL", "length": 1051, "header": "tr|A0A8Q3SHS3-1|A0A8Q3SHS3_HUMAN Computationally mapped isoform of AP-3 complex subunit beta OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78294579, "end_pos": 78003467, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695454.1", "url": "https://www.ensembl.org/id/ENST00000695454.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511922.1", "url": "https://www.ensembl.org/id/ENSP00000511922.1" } ] } }, { "isoform_ac": "A0A8Q3SHS6-1", "url": "", "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPSVIFQKVVNVANVGAVPSGQDNIHRFAAKTVHSGSLMLVTVELKEGSTAQLIINTEKTVIGSVLLRELKPVLSQG", "length": 827, "header": "tr|A0A8Q3SHS6-1|A0A8Q3SHS6_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit beta 1 OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78294579, "end_pos": 78002905, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695450.1", "url": "https://www.ensembl.org/id/ENST00000695450.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511919.1", "url": "https://www.ensembl.org/id/ENSP00000511919.1" } ] } }, { "isoform_ac": "A0A8Q3SHU2-1", "url": "", "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISGLI", "length": 862, "header": "tr|A0A8Q3SHU2-1|AP3B1_HUMAN Computationally mapped isoform of AP-3 complex subunit beta-1 OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78294579, "end_pos": 78044008, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695507.1", "url": "https://www.ensembl.org/id/ENST00000695507.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511970.1", "url": "https://www.ensembl.org/id/ENSP00000511970.1" } ] } }, { "isoform_ac": "A0A8Q3SHV5-1", "url": "", "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEMVSCFVTQAGVQWCDLGLLQPLPPGFQQFSCLSLPSSWDYRHGPIHLANFFVFLVEMEFHHVGHTGLQLRTSDQEVGICLPGSIC", "length": 178, "header": "tr|A0A8Q3SHV5-1|A0A8Q3SHV5_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit beta 1 OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78294579, "end_pos": 78228202, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695451.1", "url": "https://www.ensembl.org/id/ENST00000695451.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511920.1", "url": "https://www.ensembl.org/id/ENSP00000511920.1" } ] } }, { "isoform_ac": "A0A8Q3SHW6-1", "url": "", "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPSVIFQKVVNVANVGAVPSGQDNIHRYEELNFEAL", "length": 1034, "header": "tr|A0A8Q3SHW6-1|A0A8Q3SHW6_HUMAN Computationally mapped isoform of AP-3 complex subunit beta OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78294579, "end_pos": 78003467, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695453.1", "url": "https://www.ensembl.org/id/ENST00000695453.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511921.1", "url": "https://www.ensembl.org/id/ENSP00000511921.1" } ] } }, { "isoform_ac": "A0A8Q3SHX0-1", "url": "", "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKCEWRTR", "length": 49, "header": "tr|A0A8Q3SHX0-1|A0A8Q3SHX0_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit beta 1 OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78294579, "end_pos": 78272497, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695449.1", "url": "https://www.ensembl.org/id/ENST00000695449.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511918.1", "url": "https://www.ensembl.org/id/ENSP00000511918.1" } ] } }, { "isoform_ac": "A0A8Q3SI03-1", "url": "", "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGLQLKLCTVGH", "length": 1008, "header": "tr|A0A8Q3SI03-1|A0A8Q3SI03_HUMAN Computationally mapped isoform of AP-3 complex subunit beta OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78294579, "end_pos": 78003024, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695510.1", "url": "https://www.ensembl.org/id/ENST00000695510.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511973.1", "url": "https://www.ensembl.org/id/ENSP00000511973.1" } ] } }, { "isoform_ac": "A0A8Q3SIM7-1", "url": "", "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISERKALHLKLGKK", "length": 871, "header": "tr|A0A8Q3SIM7-1|A0A8Q3SIM7_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit beta 1 OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78294579, "end_pos": 78087632, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519888.6", "url": "https://www.ensembl.org/id/ENST00000519888.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000511880.1", "url": "https://www.ensembl.org/id/ENSP00000511880.1" } ] } }, { "isoform_ac": "A0A8Q3SIS1-1", "url": "", "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPSVIFQKVVNVANVGAVPSGQDNIHRYEELNFEAL", "length": 1053, "header": "tr|A0A8Q3SIS1-1|A0A8Q3SIS1_HUMAN Computationally mapped isoform of AP-3 complex subunit beta OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78294579, "end_pos": 78003467, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695511.1", "url": "https://www.ensembl.org/id/ENST00000695511.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511974.1", "url": "https://www.ensembl.org/id/ENSP00000511974.1" } ] } }, { "isoform_ac": "A0A8Q3WKF8-1", "url": "", "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISVSYF", "length": 863, "header": "tr|A0A8Q3WKF8-1|A0A8Q3WKF8_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit beta 1 OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78294579, "end_pos": 78089381, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517940.2", "url": "https://www.ensembl.org/id/ENST00000517940.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000511881.1", "url": "https://www.ensembl.org/id/ENSP00000511881.1" } ] } }, { "isoform_ac": "A0A8Q3WKI5-1", "url": "", "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDD", "length": 823, "header": "tr|A0A8Q3WKI5-1|A0A8Q3WKI5_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit beta 1 OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78294579, "end_pos": 78100953, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695514.1", "url": "https://www.ensembl.org/id/ENST00000695514.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511977.1", "url": "https://www.ensembl.org/id/ENSP00000511977.1" } ] } }, { "isoform_ac": "A0A8Q3WKJ9-1", "url": "", "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPSVIFQKVVNVANVGAVPSGQDNIHRFAAKTVHSGSLMLVTVELKEGSTAQLIINTEKTVIGSVLLRELKPVLSQG", "length": 1034, "header": "tr|A0A8Q3WKJ9-1|A0A8Q3WKJ9_HUMAN Computationally mapped isoform of AP-3 complex subunit beta OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78294579, "end_pos": 78002905, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695512.1", "url": "https://www.ensembl.org/id/ENST00000695512.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511975.1", "url": "https://www.ensembl.org/id/ENSP00000511975.1" } ] } }, { "isoform_ac": "A0A8Q3WKK0-1", "url": "", "sequence": { "sequence": "MLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKVNNGDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPSVIFQKVVNVANVGAVPSGQDNIHRFAAKTVHSGSLMLVTVELKEGSTAQLIINTEKTVIGSVLLRELKPVLSQG", "length": 1049, "header": "tr|A0A8Q3WKK0-1|A0A8Q3WKK0_HUMAN Computationally mapped isoform of AP-3 complex subunit beta OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78267576, "end_pos": 78002905, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695513.1", "url": "https://www.ensembl.org/id/ENST00000695513.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511976.1", "url": "https://www.ensembl.org/id/ENSP00000511976.1" } ] } }, { "isoform_ac": "A0A8Q3WKN2-1", "url": "", "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQACLSALHLLSKPRSANRNE", "length": 1016, "header": "tr|A0A8Q3WKN2-1|A0A8Q3WKN2_HUMAN Computationally mapped isoform of AP-3 complex subunit beta OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78294579, "end_pos": 78015530, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695488.1", "url": "https://www.ensembl.org/id/ENST00000695488.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511959.1", "url": "https://www.ensembl.org/id/ENSP00000511959.1" } ] } }, { "isoform_ac": "A0A8Q3WL34-1", "url": "", "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGLSFFSSRFAAKTVHSGSLMLVTVELKEGSTAQLIINTEKTVIGSVLLRELKPVLSQG", "length": 1055, "header": "tr|A0A8Q3WL34-1|A0A8Q3WL34_HUMAN Computationally mapped isoform of AP-3 complex subunit beta OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78294579, "end_pos": 78002905, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695515.1", "url": "https://www.ensembl.org/id/ENST00000695515.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000511978.1", "url": "https://www.ensembl.org/id/ENSP00000511978.1" } ] } }, { "isoform_ac": "H0YBD0-1", "url": "", "sequence": { "sequence": "XIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPSVIFQKVVNVANVGAVPSGQDNIHRSLFFLFQVCS", "length": 154, "header": "tr|H0YBD0-1|H0YBD0_HUMAN Computationally mapped isoform of Adaptor related protein complex 3 subunit beta 1 OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=1 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78039150, "end_pos": 78003046, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522901.1", "url": "https://www.ensembl.org/id/ENST00000522901.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000429228.1", "url": "https://www.ensembl.org/id/ENSP00000429228.1" } ] } }, { "isoform_ac": "O00203-1", "url": "", "sequence": { "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPSVIFQKVVNVANVGAVPSGQDNIHRFAAKTVHSGSLMLVTVELKEGSTAQLIINTEKTVIGSVLLRELKPVLSQG", "length": 1094, "header": "sp|O00203-1|AP3B1_HUMAN Isoform 1 of AP-3 complex subunit beta-1 OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=3 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78294579, "end_pos": 78002905, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000255194.11", "url": "https://www.ensembl.org/id/ENST00000255194.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000255194.7", "url": "https://www.ensembl.org/id/ENSP00000255194.7" } ] } }, { "isoform_ac": "O00203-3", "url": "", "sequence": { "sequence": "MLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPSVIFQKVVNVANVGAVPSGQDNIHRFAAKTVHSGSLMLVTVELKEGSTAQLIINTEKTVIGSVLLRELKPVLSQG", "length": 1045, "header": "sp|O00203-3|AP3B1_HUMAN Isoform 3 of AP-3 complex subunit beta-1 OS=Homo sapiens OX=9606 GN=AP3B1 PE=1 SV=3 CANONICAL=O00203-1" }, "locus": { "chromosome": "5", "start_pos": 78267576, "end_pos": 78002905, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519295.6", "url": "https://www.ensembl.org/id/ENST00000519295.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000430597.1", "url": "https://www.ensembl.org/id/ENSP00000430597.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 671, "start_aa": "Ser", "end_pos": 671, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser671", "evidence": [ { "id": "O00203", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00203" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "9502801", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9502801" }, { "id": "O00203", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00203" } ] } ], "phosphorylation": [ { "start_pos": 1092, "end_pos": 1092, "kinase_uniprot_canonical_ac": "Q13535-1", "kinase_gene_name": "ATR", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00203", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00203" }, { "database": "PubMed", "id": "10608806", "url": "https://glygen.org/publication/PubMed/10608806" } ], "site_lbl": "Ser1092" }, { "start_pos": 274, "end_pos": 274, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00203", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00203" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O00203", "url": "http://phospho.elm.eu.org/byAccession/O00203.html" } ], "site_lbl": "Tyr274" }, { "start_pos": 276, "end_pos": 276, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00203", "url": "https://www.uniprot.org/uniprot/O00203" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "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": "O00203", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00203" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "PubMed", "id": "20230923", "url": "https://glygen.org/publication/PubMed/20230923" }, { "database": "phospho.ELM", "id": "O00203", "url": "http://phospho.elm.eu.org/byAccession/O00203.html" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser276" }, { "start_pos": 489, "end_pos": 489, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00203", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00203" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Ser489" }, { "start_pos": 609, "end_pos": 609, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00203", "url": "https://www.uniprot.org/uniprot/O00203" }, { "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": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00203", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00203" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "phospho.ELM", "id": "O00203", "url": "http://phospho.elm.eu.org/byAccession/O00203.html" } ], "site_lbl": "Ser609" }, { "start_pos": 661, "end_pos": 661, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00203", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00203" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O00203", "url": "http://phospho.elm.eu.org/byAccession/O00203.html" } ], "site_lbl": "Thr661" }, { "start_pos": 750, "end_pos": 750, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00203", "url": "https://www.uniprot.org/uniprot/O00203" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O00203", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00203" } ], "site_lbl": "Ser750" }, { "start_pos": 752, "end_pos": 752, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00203", "url": "https://www.uniprot.org/uniprot/O00203" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O00203", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00203" } ], "site_lbl": "Ser752" }, { "start_pos": 868, "end_pos": 868, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00203", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00203" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Thr868" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.", "journal": "Molecular cell", "date": "1999", "authors": "Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS", "evidence": [ { "database": "UniProtKB", "id": "O00203", "url": "https://www.uniprot.org/uniprot/O00203" } ], "reference": [ { "type": "PubMed", "id": "10024875", "url": "https://glygen.org/publication/PubMed/10024875" } ] }, { "title": "Functional organization of clathrin in coats: combining electron cryomicroscopy and X-ray crystallography.", "journal": "Molecular cell", "date": "1999", "authors": "Musacchio A, Smith CJ, Roseman AM, Harrison SC, Kirchhausen T, Pearse BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "10394364", "url": "https://glygen.org/publication/PubMed/10394364" } ] }, { "title": "Substrate specificities and identification of putative substrates of ATM kinase family members.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Kim ST, Lim DS, Canman CE, Kastan MB", "evidence": [ { "database": "iPTMnet", "id": "O00203", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00203" } ], "reference": [ { "type": "PubMed", "id": "10608806", "url": "https://glygen.org/publication/PubMed/10608806" } ] }, { "title": "Identification and characterization of a novel Golgi protein, GCP60, that interacts with the integral membrane protein giantin.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Sohda M, Misumi Y, Yamamoto A, Yano A, Nakamura N, Ikehara Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "11590181", "url": "https://glygen.org/publication/PubMed/11590181" } ] }, { "title": "Generation of high curvature membranes mediated by direct endophilin bilayer interactions.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Farsad K, Ringstad N, Takei K, Floyd SR, Rose K, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "11604418", "url": "https://glygen.org/publication/PubMed/11604418" } ] }, { "title": "GGAs: roles of the different domains and comparison with AP-1 and clathrin.", "journal": "Molecular biology of the cell", "date": "2001", "authors": "Hirst J, Lindsay MR, Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "11694590", "url": "https://glygen.org/publication/PubMed/11694590" } ] }, { "title": "Regulated transport of the glucose transporter GLUT4.", "journal": "Nature reviews. 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"id": "O00203", "url": "https://www.uniprot.org/uniprot/O00203" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "O00203", "url": "https://www.uniprot.org/uniprot/O00203" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "O00203", "url": "https://www.uniprot.org/uniprot/O00203" } ], "pmid": "" }, { "name": "single fertilization", "id": "GO:0007338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007338", "evidence": [ { "database": "UniProtKB", "id": "O00203", "url": "https://www.uniprot.org/uniprot/O00203" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "O00203", "url": "https://www.uniprot.org/uniprot/O00203" } ], 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