AutismKB 2.0

Annotation Details for AP3D1


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Basic Information Top
Gene Symbol:AP3D1 ( ADTD,hBLVR )
Gene Full Name: adaptor-related protein complex 3, delta 1 subunit
Band: 19p13.3
Quick LinksEntrez ID:8943; OMIM: 607246; Uniprot ID:AP3D1_HUMAN; ENSEMBL ID: ENSG00000065000; HGNC ID: 568
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139IEA-Golgi membrane-
GO:0005765IDA-lysosomal membrane17897319
GO:0005794TAS-Golgi apparatus9151686
GO:0005886IEA-plasma membrane-
GO:0010008IDA-endosome membrane16162817
GO:0016020IDA-membrane19946888
GO:0030123IEA-AP-3 adaptor complex-
GO:0043195IEA-terminal bouton-
GO:0098830IEA-presynaptic endosome-
GO:1904115IEA-axon cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0005215TAS-transporter activity9303295
GO ID Evidence Qualifier GO_term References
GO:0006726TAS-eye pigment biosynthetic process9303295
GO:0006886TAS-intracellular protein transport9151686
GO:0008089ISS-anterograde axonal transport-
GO:0016182IEA-synaptic vesicle budding from endosome-
GO:0032438IC-melanosome organization22511774
GO:0035646IMP-endosome to melanosome transport22511774
GO:0048007IEA-antigen processing and presentation, exogenous lipid antigen via MHC class Ib-
GO:0048490ISS-anterograde synaptic vesicle transport-
GO:0048499IEA-synaptic vesicle membrane organization-
GO:0051138IEA-positive regulation of NK T cell differentiation-
GO:0061088IMP-regulation of sequestering of zinc ion17349999
GO:0072657IMP-protein localization to membrane22511774
GO:0098943IEA-neurotransmitter receptor transport, postsynaptic endosome to lysosome-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
AP3D1VAMP711445512853575 Affinity Capture-Western; Two-hybrid
AP3D1VAMP711271212853575 Affinity Capture-Western; Two-hybrid
AP3S2AP3D11155339182526 Affinity Capture-Western
AP3S2AP3D11144559182526 Affinity Capture-Western
Gene Symbol Interactant Interaction ID References Description
AP3S2AP3D118264315469849 The delta and sigma-3B subunits of the AP-3 complex interact.
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
AP3D1rs2072306, rs2159213, rs2238608, rs2238612 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:107734
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-050208-437'