ID:AP3B1_HUMAN DESCRIPTION: RecName: Full=AP-3 complex subunit beta-1; AltName: Full=Adapter-related protein complex 3 subunit beta-1; AltName: Full=Adaptor protein complex AP-3 subunit beta-1; AltName: Full=Beta-3A-adaptin; AltName: Full=Clathrin assembly protein complex 3 beta-1 large chain; FUNCTION: 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. SUBUNIT: AP-3 associates with the BLOC-1 complex (By similarity). Adaptor protein complex 3 (AP-3) is an heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2). SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Golgi apparatus (By similarity). Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex (By similarity). TISSUE SPECIFICITY: Ubiquitously expressed. PTM: Phosphorylated on serine residues. DISEASE: Defects in AP3B1 are the cause of Hermansky-Pudlak syndrome type 2 (HPS2) [MIM:608233]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections. SIMILARITY: Belongs to the adaptor complexes large subunit family. WEB RESOURCE: Name=AP3B1base; Note=AP3B1 mutation db; URL="http://bioinf.uta.fi/AP3B1base/"; WEB RESOURCE: Name=Mutations of the ADTB3A gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/adtb3mut.htm"; WEB RESOURCE: Name=Albinism database (ADB); Note=AP3B1 mutations; URL="http://albinismdb.med.umn.edu/hps2mut.htm"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AP3B1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O00203
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0019903 protein phosphatase binding GO:0030742 GTP-dependent protein binding
Biological Process: GO:0006622 protein targeting to lysosome GO:0006886 intracellular protein transport GO:0007596 blood coagulation GO:0008089 anterograde axonal transport GO:0015031 protein transport GO:0016192 vesicle-mediated transport GO:0019882 antigen processing and presentation GO:0032438 melanosome organization GO:0048007 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048490 anterograde synaptic vesicle transport GO:0051138 positive regulation of NK T cell differentiation
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
