AutismKB 2.0

Annotation Details for AP3B1


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Basic Information Top
Gene Symbol:AP3B1 ( ADTB3,ADTB3A,HPS,HPS2,PE )
Gene Full Name: adaptor-related protein complex 3, beta 1 subunit
Band: 5q14.1
Quick LinksEntrez ID:8546; OMIM: 603401; Uniprot ID:AP3B1_HUMAN; ENSEMBL ID: ENSG00000132842; HGNC ID: 566
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005765IDA-lysosomal membrane17897319
GO:0005794IEA-Golgi apparatus-
GO:0016020IDA-membrane19946888
GO:0030123IEA-AP-3 adaptor complex-
GO:0030131IEA-clathrin adaptor complex-
GO:0030665IEA-clathrin-coated vesicle membrane-
GO:1904115IEA-axon cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0019903IPI-protein phosphatase binding17622474
GO:0030742IPI-GTP-dependent protein binding22511774
GO ID Evidence Qualifier GO_term References
GO:0006622IEA-protein targeting to lysosome-
GO:0006886TAS-intracellular protein transport9931340
GO:0007596IEA-blood coagulation-
GO:0008089ISS-anterograde axonal transport-
GO:0032438IMP-melanosome organization11452004
GO:0048007IEA-antigen processing and presentation, exogenous lipid antigen via MHC class Ib-
GO:0048490ISS-anterograde synaptic vesicle transport-
GO:0051138IEA-positive regulation of NK T cell differentiation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
AP3B1ARF511411611926829 Reconstituted Complex
AP3B1ARF510687611926829 Reconstituted Complex
AP3B1ARF611411611926829 Reconstituted Complex
AP3B1ARF610687711926829 Reconstituted Complex
AP3B1ARRB110690117353931 Affinity Capture-MS
AP3B1ARRB111411617353931 Affinity Capture-MS
AP3B1ARRB210690217353931 Affinity Capture-MS
AP3B1ARRB211411617353931 Affinity Capture-MS
AP3B1SLC30A311356214657250 Reconstituted Complex
AP3B1SLC30A311411614657250 Reconstituted Complex
AP3S2AP3B11155339182526 Affinity Capture-Western; Co-fractionation
AP3S2AP3B11141169182526 Affinity Capture-Western; Co-fractionation
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
AP3B1rs252761, rs402883, rs4704487, rs6453373, rs7726585 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:1333879
  • Data Attributes: MGI curated and HomoloGene calculated
No data