{ "uniprot_canonical_ac": "A0A0G2JWD6-1", "ptm_annotation": [], "sequence": { "header": "tr|A0A0G2JWD6-1|A0A0G2JWD6_RAT Isoform 1 of AP-3 complex subunit beta OS=Rattus norvegicus OX=10116 GN=Ap3b1 PE=1 SV=1 CANONICAL=A0A0G2JWD6-1", "length": 1096, "sequence": "MSSNSFAYNEQSGGGEAAELGQEATSTISSSGAFGLFSSDWKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPVMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHRNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWREDDGVEDNEKNFYDSDDEEKKSGKKKPYSMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPRSEAGVISKSLVRLLRSHREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVRSQDKQFAAATIQTIGRCATSIAEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNEKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNVKASGYLELSNWPEVAPDPSVRNVEVIESAKEWTPLGKTKKEKPEKKFYSESEEEEEEEEEDEEDEEEDPSDSSSDSESGSGRESGDSGSSSEDSSEDSSSGQDSETGSEAEAEHQRVAKTNSKTKRKSASEDREKKNGKSQASESSSEESSSTEESSSESESGSDSEPAPRKTAKAKERKPQQERHPPSKDVFLLDLDDFNPVSTPVALPTPALSPSLIADLEGLNLSTSSSIINVSTPVFVPTKTHELLHRMRGKGLAAHYCFPRQPCIFGDKMVSVQITLTNTSDGKIENIHVGGKKLAVGVQMHVFHPIESLEPEGSVTVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGMLTGMNETSATLIAAPQNFTPSMILQKVVNVANLGAVPSSQDNIHRFAAKTVHSGSLMLVTVELKEGSTAQLIINTEKTVIGSVLLRELKPVLSQG" }, "uniprot_id": "A0A0G2JWD6_RAT", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Rat", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "Rattus norvegicus", "taxid": 10116 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22673903", "type": [ "PubMed" ], "id": "22673903" } ], "title": "Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues.", "journal": "Nat. Commun.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "authors": "Olsen J.V., Lage K., Secher A., Dmytriyev A., Lundby A., Lundby C., Nordsborg N.B.", "date": "2012" } ], "uniprot_ac": "A0A0G2JWD6", "site_annotation": [ { "end_pos": 1008, "annotation": "n_glycosylation_sequon", "start_pos": 1006 }, { "end_pos": 1020, "annotation": "n_glycosylation_sequon", "start_pos": 1018 }, { "end_pos": 401, "annotation": "n_glycosylation_sequon", "start_pos": 399 }, { "end_pos": 77, "annotation": "n_glycosylation_sequon", "start_pos": 75 }, { "end_pos": 854, "annotation": "n_glycosylation_sequon", "start_pos": 852 }, { "end_pos": 863, "annotation": "n_glycosylation_sequon", "start_pos": 861 }, { "end_pos": 912, "annotation": "n_glycosylation_sequon", "start_pos": 910 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6#A0A0G2JWD6-1", "isoform_ac": "A0A0G2JWD6-1", "locus": { "end_pos": 24024906, "strand": "-", "start_pos": 24224947, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000089599", "id": "ENSRNOT00000089599", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000069838", "id": "ENSRNOP00000069838", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0G2JWD6-1|A0A0G2JWD6_RAT Isoform 1 of AP-3 complex subunit beta OS=Rattus norvegicus OX=10116 GN=Ap3b1 PE=1 SV=1 CANONICAL=A0A0G2JWD6-1", "length": 1096, "sequence": "MSSNSFAYNEQSGGGEAAELGQEATSTISSSGAFGLFSSDWKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPVMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHRNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWREDDGVEDNEKNFYDSDDEEKKSGKKKPYSMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPRSEAGVISKSLVRLLRSHREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVRSQDKQFAAATIQTIGRCATSIAEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNEKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNVKASGYLELSNWPEVAPDPSVRNVEVIESAKEWTPLGKTKKEKPEKKFYSESEEEEEEEEEDEEDEEEDPSDSSSDSESGSGRESGDSGSSSEDSSEDSSSGQDSETGSEAEAEHQRVAKTNSKTKRKSASEDREKKNGKSQASESSSEESSSTEESSSESESGSDSEPAPRKTAKAKERKPQQERHPPSKDVFLLDLDDFNPVSTPVALPTPALSPSLIADLEGLNLSTSSSIINVSTPVFVPTKTHELLHRMRGKGLAAHYCFPRQPCIFGDKMVSVQITLTNTSDGKIENIHVGGKKLAVGVQMHVFHPIESLEPEGSVTVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGMLTGMNETSATLIAAPQNFTPSMILQKVVNVANLGAVPSSQDNIHRFAAKTVHSGSLMLVTVELKEGSTAQLIINTEKTVIGSVLLRELKPVLSQG" } }, { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6#D3ZIF5-1", "isoform_ac": "D3ZIF5-1", "locus": { "end_pos": 24107522, "strand": "-", "start_pos": 24224947, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000066302", "id": "ENSRNOT00000066302", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000060116", "id": "ENSRNOP00000060116", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|D3ZIF5-1|A0A0G2JWD6_RAT Computationally mapped isoform of AP-3 complex subunit beta OS=Rattus norvegicus OX=10116 GN=Ap3b1 PE=1 SV=1 CANONICAL=A0A0G2JWD6-1", "length": 794, "sequence": "MAVAQLYWHISPRSEAGVISKSLVRLLRSHREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVRSQDKQFAAATIQTIGRCATSIAEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNEKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNVKASGYLELSNWPEVAPDPSVRNVEVIESAKEWTPLGKTKKEKPEKKFYSESEEEEEEEEEDEEDEEEDPSDSSSDSESGSGRESGDSGSSSEDSSEDSSSGQDSETGSEAEAEHQRVAKTNSKTKRKSASEDREKKNGKSQASESSSEESSSTEESSSESESGSDSEPAPRKTAKAKERKPQQERHPPSKDVFLLDLDDFNPVSTPVALPTPALSPSLIADLEGLNLSTSSSIINVSTPVFVPTKTHELLHRMRGKGLAAHYCFPRQPCIFGDKMVSVQITLTNTSDGKIENIHVGGKKLAVGVQMHVFHPIESLEPEGSVTVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGMLTGMNETSATLIAAPQNFTPSMILQKVVNVANLGAVPSSQDNIHRYERLKFQVLQERFAAKTVHSGSLMLVTVELKEGSTAQLIINTEKTVIGSVLLRELKPVLSQG" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-432722", "resource": "Reactome", "id": "R-RNO-432722", "name": "Golgi Associated Vesicle Biogenesis" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6#function", "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": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6#function", "id": "A0A0G2JWD6", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "O00203-1", "protein_name": "AP-3 complex subunit beta-1", "sequence": { "length": 1094, "sequence": "MSSNSFPYNEQSGGGEATELGQEATSTISPSGAFGLFSSDLKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPIMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHKNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWKEGDELEDNGKNFYESDDDQKEKTDKKKKPYTMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGIISKSLVRLLRSNREVQYIVLQNIATMSIQRKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVKSQDKQFAAATIQTIGRCATNILEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIKHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLGAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNVKSGALSKYAKKIFLAQKPAPLLESPFKDRDHFQLGTLSHTLNIKATGYLELSNWPEVAPDPSVRNVEVIELAKEWTPAGKAKQENSAKKFYSESEEEEDSSDSSSDSESESGSESGEQGESGEEGDSNEDSSEDSSSEQDSESGRESGLENKRTAKRNSKAKGKSDSEDGEKENEKSKTSDSSNDESSSIEDSSSDSESESEPESESESRRVTKEKEKKTKQDRTPLTKDVSLLDLDDFNPVSTPVALPTPALSPSLMADLEGLHLSTSSSVISVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPIGMKMHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTPSVIFQKVVNVANVGAVPSGQDNIHRFAAKTVHSGSLMLVTVELKEGSTAQLIINTEKTVIGSVLLRELKPVLSQG" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0A0G2JWD6/", "id": "A0A0G2JWD6", "database": "OMA" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "AP3B1", "tax_id": 9606 }, { "uniprot_canonical_ac": "Q9Z1T1-1", "protein_name": "AP-3 complex subunit beta-1", "sequence": { "length": 1105, "sequence": "MSSNSFAYNEQSGGGEAAELGQEATSTISPSGAFGLFSSDWKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPVMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHRNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWREDGGLEDNEKNFYESEEEEEEKEKSSRKKSYAMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGVISKSLVRLLRSNREVQYIVLQNIATMSIERKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVRSQDKQFAAATIQTIGRCATSISEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIRHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLAAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNEKSGALSKYAKKIFLAPKPAPLLESPFKDRDRFQLGTLSHTLNIKASGYLELSNWPEVAPDPSVRNVEVIESAKEWTPLGKTKKEKPMKKFYSESEEEEDEDEDEDEEEEEKEDEDENPSDSSSDSESGSGSESGDTGTEDSSEDSSSGQDSETGSQAEAERQKVAKRNSKTKRKSDSENREKKNENSKASESSSEESSSMEDSSSESESESGSDSEPAPRNVAPAKERKPQQERHPPSKDVFLLDLDDFNPVSTPVALPTPALSPSLIADLEGLNLSTSSSVINVSTPVFVPTKTHELLHRMHGKGLAAHYCFPRQPCIFSDKMVSVQITLTNTSDRKIENIHIGGKGLPVGMQMHAFHPIDSLEPKGSVTVSVGIDFCDSTQTASFQLCTKDDCFNVTLQPPVGELLSPVAMSEKDFKKEQGTLTGMNETSATLIAAPQNFTPSMILQKVVNVANLGAVPSSQDNVHRFAARTVHSGSLMLVTVELKEGSTAQLIINTEKTVIGSVLLRELKPVLSQG" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0A0G2JWD6/", "id": "A0A0G2JWD6", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Ap3b1", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006231876.1", "ac": "XP_006231876.1", "name": "AP-3 complex subunit beta-1 isoform X1", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030742", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "GTP-dependent protein binding", "id": "GO:0030742" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "protein phosphatase binding", "id": "GO:0019903" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "mitochondrion", "id": "GO:0005739" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "synapse", "id": "GO:0045202" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030665", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "clathrin-coated vesicle membrane", "id": "GO:0030665" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030123", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "AP-3 adaptor complex", "id": "GO:0030123" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030131", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "clathrin adaptor complex", "id": "GO:0030131" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "axon cytoplasm", "id": "GO:1904115" } ], "total": 6, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "vesicle-mediated transport", "id": "GO:0016192" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030851", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "granulocyte differentiation", "id": "GO:0030851" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098773", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "skin epidermis development", "id": "GO:0098773" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090152", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "establishment of protein localization to mitochondrial membrane involved in mitochondrial fission", "id": "GO:0090152" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003016", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "respiratory system process", "id": "GO:0003016" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "inflammatory response", "id": "GO:0006954" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "spermatogenesis", "id": "GO:0007283" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "blood coagulation", "id": "GO:0007596" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "lung development", "id": "GO:0030324" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061024", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "membrane organization", "id": "GO:0061024" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "cell morphogenesis", "id": "GO:0000902" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007338", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "single fertilization", "id": "GO:0007338" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050790", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "regulation of catalytic activity", "id": "GO:0050790" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "lysosome organization", "id": "GO:0007040" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060155", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "platelet dense granule organization", "id": "GO:0060155" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008089", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "anterograde axonal transport", "id": "GO:0008089" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016182", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "synaptic vesicle budding from endosome", "id": "GO:0016182" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032438", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "melanosome organization", "id": "GO:0032438" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048007", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "antigen processing and presentation, exogenous lipid antigen via MHC class Ib", "id": "GO:0048007" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048490", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "anterograde synaptic vesicle transport", "id": "GO:0048490" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051138", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "positive regulation of NK T cell differentiation", "id": "GO:0051138" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006622", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "protein targeting to lysosome", "id": "GO:0006622" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034394", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "protein localization to cell surface", "id": "GO:0034394" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "pigmentation", "id": "GO:0043473" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042789", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "mRNA transcription by RNA polymerase II", "id": "GO:0042789" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006882", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "cellular zinc ion homeostasis", "id": "GO:0006882" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048872", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "homeostasis of number of cells", "id": "GO:0048872" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060425", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "lung morphogenesis", "id": "GO:0060425" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019882", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "name": "antigen processing and presentation", "id": "GO:0019882" } ], "total": 30, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "type": "synonym", "resource": "UniProtKB", "name": "Ap3b1_predicted" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2JWD6", "type": "synonym", "resource": "RefSeq", "name": "Ap3b1" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "type": "recommended", "resource": "UniProtKB", "name": "Ap3b1" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "type": "synonym", "resource": "UniProtKB", "name": "rCG_44802" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000010624", "id": "ENSRNOG00000010624", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/309969", "id": "309969", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A0A0G2JWD6*", "id": "A0A0G2JWD6", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR002553", "id": "IPR002553", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR015151", "id": "IPR015151", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR016024", "id": "IPR016024", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR026739", "id": "IPR026739", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR026740", "id": "IPR026740", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029390", "id": "IPR029390", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029394", "id": "IPR029394", "database": "InterPro" }, { "url": "https://omabrowser.org/oma/group/ASSNEWK/", "id": "ASSNEWK", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=323029at2759", "id": "323029at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11134", "id": "PTHR11134", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF01602", "id": "PF01602", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF14796", "id": "PF14796", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF14797", "id": "PF14797", "database": "Pfam" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-432722", "id": "R-RNO-432722", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006231876.1", "id": "XP_006231876.1", "database": "RefSeq" }, { "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1310256", "id": "1310256", "database": "RGD" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "id": "A0A0G2JWD6", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "MONDO:0011997", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "resource": "MONDO", "name": "Hermansky-Pudlak syndrome with neutropenia", "description": "" }, { "id": "MONDO:0011997", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "resource": "MONDO", "name": "Hermansky-Pudlak syndrome type 2", "description": "" }, { "id": "MONDO:0011997", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "resource": "MONDO", "name": "Hermansky-Pudlak syndrome 2; HPS2", "description": "" }, { "id": "MONDO:0011997", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "resource": "MONDO", "name": "AP3B1 Hermansky-Pudlak syndrome", "description": "" }, { "id": "MONDO:0011997", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "resource": "MONDO", "name": "Hermansky Pudlak syndrome 2", "description": "" }, { "id": "MONDO:0011997", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "resource": "MONDO", "name": "Hermansky-Pudlak syndrome caused by mutation in AP3B1", "description": "" }, { "id": "MONDO:0011997", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "resource": "MONDO", "name": "Platelet defects and oculocutaneous albinism", "description": "" }, { "id": "MONDO:0011997", "url": "https://monarchinitiative.org/disease/MONDO:0011997", "resource": "MONDO", "name": "HPS2", "description": "" } ], "recommended_name": { "id": "DOID:0060540", "url": "http://disease-ontology.org/term/DOID:0060540", "resource": "Disease Ontology", "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." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0060540#disease-associations", "id": "0060540", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [], "recommended_name": { "id": "DOID:1227", "url": "http://disease-ontology.org/term/DOID:1227", "resource": "Disease Ontology", "name": "neutropenia", "description": "" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/1227#disease-associations", "id": "1227", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0008495", "url": "https://monarchinitiative.org/disease/MONDO:0008495", "resource": "MONDO", "name": "platelet dense granule deficiency", "description": "" }, { "id": "MONDO:0008495", "url": "https://monarchinitiative.org/disease/MONDO:0008495", "resource": "MONDO", "name": "combined alpha-delta platelet storage pool deficiency", "description": "" }, { "id": "MONDO:0008495", "url": "https://monarchinitiative.org/disease/MONDO:0008495", "resource": "MONDO", "name": "dense body defect", "description": "" }, { "id": "MONDO:0008495", "url": "https://monarchinitiative.org/disease/MONDO:0008495", "resource": "MONDO", "name": "platelet storage pool diseases", "description": "" }, { "id": "MONDO:0008495", "url": "https://monarchinitiative.org/disease/MONDO:0008495", "resource": "MONDO", "name": "storage pool platelet disease", "description": "" }, { "id": "MONDO:0008495", "url": "https://monarchinitiative.org/disease/MONDO:0008495", "resource": "MONDO", "name": "alpha delta granule deficiency", "description": "" }, { "id": "MONDO:0008495", "url": "https://monarchinitiative.org/disease/MONDO:0008495", "resource": "MONDO", "name": "alpha dense granule deficiency", "description": "" }, { "id": "MONDO:0008495", "url": "https://monarchinitiative.org/disease/MONDO:0008495", "resource": "MONDO", "name": "platelet storage pool defect", "description": "" }, { "id": "DOID:2223", "url": "http://disease-ontology.org/term/DOID:2223", "resource": "Disease Ontology", "name": "Dense body defect", "description": "" }, { "id": "DOID:2223", "url": "http://disease-ontology.org/term/DOID:2223", "resource": "Disease Ontology", "name": "Platelet dense granule deficiency", "description": "" }, { "id": "DOID:2223", "url": "http://disease-ontology.org/term/DOID:2223", "resource": "Disease Ontology", "name": "Platelet storage pool defect", "description": "" } ], "recommended_name": { "id": "DOID:2223", "url": "http://disease-ontology.org/term/DOID:2223", "resource": "Disease Ontology", "name": "platelet storage pool deficiency", "description": "" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/2223#disease-associations", "id": "2223", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:3082", "url": "http://disease-ontology.org/term/DOID:3082", "resource": "Disease Ontology", "name": "ILD", "description": "" } ], "recommended_name": { "id": "DOID:3082", "url": "http://disease-ontology.org/term/DOID:3082", "resource": "Disease Ontology", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/3082#disease-associations", "id": "3082", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0008748", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "resource": "MONDO", "name": "Hermansky-Pudlak syndrome 1", "description": "" }, { "id": "MONDO:0008748", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "resource": "MONDO", "name": "Hermansky-Pudlak syndrome caused by mutation in HPS1", "description": "" }, { "id": "MONDO:0008748", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "resource": "MONDO", "name": "albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells", "description": "" }, { "id": "MONDO:0008748", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "resource": "MONDO", "name": "Hermansky-Pudlak syndrome type 1", "description": "" }, { "id": "MONDO:0008748", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "resource": "MONDO", "name": "Delta storage pool disease", "description": "" }, { "id": "MONDO:0008748", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "resource": "MONDO", "name": "Hermansky-Pudlak syndrome 1; HPS1", "description": "" }, { "id": "MONDO:0008748", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "resource": "MONDO", "name": "HPS1 Hermansky-Pudlak syndrome", "description": "" }, { "id": "MONDO:0008748", "url": "https://monarchinitiative.org/disease/MONDO:0008748", "resource": "MONDO", "name": "HPS1", "description": "" } ], "recommended_name": { "id": "DOID:3753", "url": "http://disease-ontology.org/term/DOID:3753", "resource": "Disease Ontology", "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." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/3753#disease-associations", "id": "3753", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:3770", "url": "http://disease-ontology.org/term/DOID:3770", "resource": "Disease Ontology", "name": "Fibrosis of lung", "description": "" } ], "recommended_name": { "id": "DOID:3770", "url": "http://disease-ontology.org/term/DOID:3770", "resource": "Disease Ontology", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/3770#disease-associations", "id": "3770", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 121501.0, "chemical_mass": 121501.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6", "name": "Ap3b1", "locus": { "end_pos": 24226224, "strand": "+", "start_pos": 24024791, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOG00000010624", "id": "ENSRNOG00000010624", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2JWD6", "type": "synonym", "resource": "RefSeq", "name": "AP-3 complex subunit beta-1 isoform X1" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2JWD6#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "AP-3 complex subunit beta" } ] }