Genomes and Genes
Gene Symbol: AP3D1
Description: adaptor related protein complex 3 subunit delta 1
Alias: ADTD, HPS10, hBLVR, AP-3 complex subunit delta-1, AP-3 complex delta subunit, partial CDS, adapter-related protein complex 3 subunit delta-1, adaptor related protein complex 3 delta 1 subunit, delta adaptin, subunit of putative vesicle coat adaptor complex AP-3
- Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, et al. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. Am J Hum Genet. 2016;99:1368-1376 pubmed publisher..The only isoform for the ? subunit of the AP-3 complex is encoded by AP3D1. Autosomal-recessive mutations in AP3D1 cause a severe disorder cumulating the symptoms of the AP3B1 and AP3B2 ..
- Dordor A, Poudevigne E, Gottlinger H, Weissenhorn W. Essential and supporting host cell factors for HIV-1 budding. Future Microbiol. 2011;6:1159-70 pubmed publisher..Here we review recent advances in understanding the role of host cell factors recruited by Gag during HIV-1 assembly and budding. ..
- Ivan V, Martinez Sanchez E, Sima L, Oorschot V, Klumperman J, Petrescu S, et al. AP-3 and Rabip4' coordinately regulate spatial distribution of lysosomes. PLoS ONE. 2012;7:e48142 pubmed publisher..The most peripheral lysosomes were localized beyond microtubules, within the cortical actin network. Our results uncover a novel function for AP-3 and rabip4' in regulating lysosome positioning through an interorganellar pathway. ..
- Dores M, Paing M, Lin H, Montagne W, Marchese A, Trejo J. AP-3 regulates PAR1 ubiquitin-independent MVB/lysosomal sorting via an ALIX-mediated pathway. Mol Biol Cell. 2012;23:3612-23 pubmed publisher..Moreover, AP-3 facilitates PAR1 interaction with ALIX, suggesting that AP-3 functions before PAR1 engagement of ALIX and MVB/lysosomal sorting. ..
- Garcia E, Nikolic D, Piguet V. HIV-1 replication in dendritic cells occurs through a tetraspanin-containing compartment enriched in AP-3. Traffic. 2008;9:200-14 pubmed
- Craig H, Reddy T, Riggs N, Dao P, Guatelli J. Interactions of HIV-1 nef with the mu subunits of adaptor protein complexes 1, 2, and 3: role of the dileucine-based sorting motif. Virology. 2000;271:9-17 pubmed
- Salazar G, Love R, Werner E, Doucette M, Cheng S, Levey A, et al. The zinc transporter ZnT3 interacts with AP-3 and it is preferentially targeted to a distinct synaptic vesicle subpopulation. Mol Biol Cell. 2004;15:575-87 pubmed..Our evidence indicates that neuroendocrine cells assemble molecularly heterogeneous SV and suggests that this diversity could contribute to the functional variety of synapses. ..
- Ghanam R, Samal A, Fernandez T, Saad J. Role of the HIV-1 Matrix Protein in Gag Intracellular Trafficking and Targeting to the Plasma Membrane for Virus Assembly. Front Microbiol. 2012;3:55 pubmed publisher..In this review, we summarize the current understanding of the structural and functional role of MA in HIV replication. ..
- Ammann S, Schulz A, Krageloh Mann I, Dieckmann N, Niethammer K, Fuchs S, et al. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. 2016;127:997-1006 pubmed publisher..AP3? deficiency thus causes a severe neurologic disorder with immunodeficiency and albinism that we propose to classify as HPS10.
- Lingappa J, Reed J, Tanaka M, Chutiraka K, Robinson B. How HIV-1 Gag assembles in cells: Putting together pieces of the puzzle. Virus Res. 2014;193:89-107 pubmed publisher..Overall, we show how data obtained using a variety of techniques has led to our current understanding of HIV assembly. ..
- Bultema J, Ambrosio A, Burek C, Di Pietro S. BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles. J Biol Chem. 2012;287:19550-63 pubmed publisher..Additionally, analysis of tyrosinase-related protein-2 and total melanin production indicates that Rab32 has unique functions that cannot be carried out by Rab38 in melanosome biogenesis. ..
- KYERE S, Mercredi P, Dong X, Spearman P, Summers M. The HIV-1 matrix protein does not interact directly with the protein interactive domain of AP-3?. Virus Res. 2012;169:411-4 pubmed publisher..Unexpectedly, no evidence of binding was observed in these in vitro experiments, even at relatively high protein concentrations (200?M), suggesting that AP-3? plays an alternative role in HIV-1 assembly. ..
- Hirokawa M, Morita H, Tajima T, Takahashi A, Ashikawa K, Miya F, et al. A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese. Eur J Hum Genet. 2015;23:374-80 pubmed publisher..3 (rs4618210:A>G, P = 2.60 × 10(-9), odds ratio (OR) = 0.91) and AP3D1-DOT1L-SF3A2 on chromosome 19p13.3 (rs3803915:A>C, P = 3.84 × 10(-9), OR = 0.89)...
- Dell Angelica E, Ooi C, Bonifacino J. Beta3A-adaptin, a subunit of the adaptor-like complex AP-3. J Biol Chem. 1997;272:15078-84 pubmed..The characteristics of beta3A-adaptin reported here lend support to the idea that AP-3 is a structural and functional homolog of the clathrin-associated adaptors AP-1 and AP-2. ..
- Simpson F, Peden A, Christopoulou L, Robinson M. Characterization of the adaptor-related protein complex, AP-3. J Cell Biol. 1997;137:835-45 pubmed
- Honing S, Sandoval I, Von Figura K. A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3. EMBO J. 1998;17:1304-14 pubmed..This points to a function of AP-3 in intracellular sorting to lysosomes and melanosomes of a subset of cargo proteins via di-leucine-based sorting motifs. ..
- Kantheti P, Qiao X, Diaz M, Peden A, Meyer G, Carskadon S, et al. Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Neuron. 1998;21:111-22 pubmed..Our results demonstrate that the AP-3 complex is responsible for cargo selection to lysosome-related organelles such as melanosomes and platelet dense granules as well as to neurotransmitter vesicles. ..
- Coleman S, Van Damme N, Day J, Noviello C, Hitchin D, Madrid R, et al. Leucine-specific, functional interactions between human immunodeficiency virus type 1 Nef and adaptor protein complexes. J Virol. 2005;79:2066-78 pubmed..This binding likely underlies the unusual ability of Nef to induce the stabilization of these complexes on endosomal membranes, an activity that correlates with enhancement of viral replication. ..
- Falcon Perez J, Dell Angelica E. Zinc transporter 2 (SLC30A2) can suppress the vesicular zinc defect of adaptor protein 3-depleted fibroblasts by promoting zinc accumulation in lysosomes. Exp Cell Res. 2007;313:1473-83 pubmed
- Balasubramaniam M, Freed E. New insights into HIV assembly and trafficking. Physiology (Bethesda). 2011;26:236-51 pubmed publisher..In this review, we highlight the current understanding of the cellular machinery involved in Gag trafficking and virus assembly. ..
- Hoshijima M, Hattori T, Inoue M, Araki D, Hanagata H, Miyauchi A, et al. CT domain of CCN2/CTGF directly interacts with fibronectin and enhances cell adhesion of chondrocytes through integrin alpha5beta1. FEBS Lett. 2006;580:1376-82 pubmed..These findings suggest for the first time that CCN2/CTGF enhances chondrocyte adhesion to FN through direct interaction of its C-terminal CT domain with FN, and that alpha5beta1 is involved in this adhesion. ..
- Liu L, Sutton J, Woodruff E, Villalta F, Spearman P, Dong X. Defective HIV-1 particle assembly in AP-3-deficient cells derived from patients with Hermansky-Pudlak syndrome type 2. J Virol. 2012;86:11242-53 pubmed
- Hashimoto R, Ohi K, Okada T, Yasuda Y, Yamamori H, Hori H, et al. Association analysis between schizophrenia and the AP-3 complex genes. Neurosci Res. 2009;65:113-5 pubmed publisher..80) was no longer positive after correction for multiple testing (corrected P=0.192). The present results suggest that AP3 complex genes might not play a major role in the pathogenesis of schizophrenia in this population. ..
- Austin C, Boehm M, Tooze S. Site-specific cross-linking reveals a differential direct interaction of class 1, 2, and 3 ADP-ribosylation factors with adaptor protein complexes 1 and 3. Biochemistry. 2002;41:4669-77 pubmed
- Bukrinskaya A. HIV-1 matrix protein: a mysterious regulator of the viral life cycle. Virus Res. 2007;124:1-11 pubmed..It is suggested that two MA fractions possess diverse functions and are involved in different stages of virus morphogenesis as key regulators of the viral life cycle. ..
- Van Damme N, Guatelli J. HIV-1 Vpu inhibits accumulation of the envelope glycoprotein within clathrin-coated, Gag-containing endosomes. Cell Microbiol. 2008;10:1040-57 pubmed
- Nie Z, Boehm M, Boja E, Vass W, Bonifacino J, Fales H, et al. Specific regulation of the adaptor protein complex AP-3 by the Arf GAP AGAP1. Dev Cell. 2003;5:513-21 pubmed..Cells overexpressing AGAP1 also exhibit increased LAMP1 trafficking via the plasma membrane. Taken together, these results support the hypothesis that AGAP1 directly and specifically regulates AP-3-dependent trafficking. ..
- Ooi C, Moreira J, Dell Angelica E, Poy G, Wassarman D, Bonifacino J. Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet. EMBO J. 1997;16:4508-18 pubmed..Thus, the eye pigmentation defect in the Drosophila garnet mutant may be attributed to compromised function of a coat protein involved in intracellular transport processes required for biogenesis or function of pigment granules. ..
- Crump C, Xiang Y, Thomas L, Gu F, Austin C, Tooze S, et al. PACS-1 binding to adaptors is required for acidic cluster motif-mediated protein traffic. EMBO J. 2001;20:2191-201 pubmed..These studies demonstrate the requirement for PACS-1 interactions with adaptor proteins in multiple processes, including secretory granule biogenesis and HIV-1 pathogenesis. ..
- Pryor P, Jackson L, Gray S, Edeling M, Thompson A, Sanderson C, et al. Molecular basis for the sorting of the SNARE VAMP7 into endocytic clathrin-coated vesicles by the ArfGAP Hrb. Cell. 2008;134:817-27 pubmed publisher..These results elucidate the mechanism of retrieval of a postfusion SNARE complex in clathrin-coated vesicles. ..
- Vermeire J, Vanbillemont G, Witkowski W, Verhasselt B. The Nef-infectivity enigma: mechanisms of enhanced lentiviral infection. Curr HIV Res. 2011;9:474-89 pubmed..Hereby we aim to contribute to a better understanding of this highly conserved and therapeutically attractive Nef function. ..