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
Species: human
Products:     AP3D1

Top Publications

  1. Lefrancois S, Janvier K, Boehm M, Ooi C, Bonifacino J. An ear-core interaction regulates the recruitment of the AP-3 complex to membranes. Dev Cell. 2004;7:619-25 pubmed
    ..These observations suggest a new regulatory mechanism for the recruitment of AP-3 to membranes involving delta-ear-sigma3 interactions. ..
  2. Zlatic S, Tornieri K, L hernault S, Faundez V. Clathrin-dependent mechanisms modulate the subcellular distribution of class C Vps/HOPS tether subunits in polarized and nonpolarized cells. Mol Biol Cell. 2011;22:1699-715 pubmed publisher
    ..We propose that vesicular (AP-3) and nonvesicular (Hrs) clathrin mechanisms segregate class C Vps/HOPS tethers to organelles and domains of mammalian cells bearing complex architectures...
  3. Theos A, Tenza D, Martina J, Hurbain I, Peden A, Sviderskaya E, et al. Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes. Mol Biol Cell. 2005;16:5356-72 pubmed
  4. Martinez Arca S, Rudge R, Vacca M, Raposo G, Camonis J, Proux Gillardeaux V, et al. A dual mechanism controlling the localization and function of exocytic v-SNAREs. Proc Natl Acad Sci U S A. 2003;100:9011-6 pubmed
    ..Moreover, they point to the amino-terminal domains of SNARE proteins as multifunctional modules responsible for the fine tuning of SNARE function. ..
  5. Rehling P, Darsow T, Katzmann D, Emr S. Formation of AP-3 transport intermediates requires Vps41 function. Nat Cell Biol. 1999;1:346-53 pubmed
    ..Vps41 binds to the AP-3 delta-adaptin subunit, suggesting that they function together in the formation of ALP pathway transport intermediates at the late Golgi. ..
  6. Dong X, Li H, Derdowski A, Ding L, Burnett A, Chen X, et al. AP-3 directs the intracellular trafficking of HIV-1 Gag and plays a key role in particle assembly. Cell. 2005;120:663-74 pubmed
    ..These studies illuminate an early step in retroviral particle assembly and provide evidence that the trafficking of Gag to late endosomes is part of a productive particle assembly pathway. ..
  7. Janvier K, Craig H, Hitchin D, Madrid R, Sol Foulon N, Renault L, et al. HIV-1 Nef stabilizes the association of adaptor protein complexes with membranes. J Biol Chem. 2003;278:8725-32 pubmed
    ..The stabilization of these complexes on membranes may underlie the pleiotropic effects of Nef on protein trafficking within the endosomal system. ..
  8. Mohammed M, Al Hashmi N, Al Rashdi S, Al Sukaiti N, Al Adawi K, Al Riyami M, et al. Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder. Eur J Med Genet. 2018;: pubmed publisher
    ..Mutations in AP3D1 which encode the main subunit AP-3(δ) were recently reported on one individual and led to Hermansky-Pudlak ..
  9. Cappato S, Giacopelli F, Tonachini L, Ravazzolo R, Bocciardi R. Identification of reference genes for quantitative PCR during C3H10T1/2 chondrogenic differentiation. Mol Biol Rep. 2019;: pubmed publisher
    ..Among 12 candidate reference genes (Ap3d1, Csnk2a2, Cdc40, Fbxw2, Fbxo38, Htatsf1, Mon2, Pak1ip1, Zfp91, 18S, ActB, GAPDH) we identified Mon2 and Ap3d1 as ..

More Information


  1. 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 ..
  2. 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. ..
  3. 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. ..
  4. 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. ..
  5. 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
  6. 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
  7. 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. ..
  8. 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. ..
  9. 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.
  10. 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. ..
  11. 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. ..
  12. 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. ..
  13. 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)...
  14. Meng B, Lever A. Wrapping up the bad news: HIV assembly and release. Retrovirology. 2013;10:5 pubmed publisher
  15. 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. ..
  16. Montoliu L, Marks M. A new type of syndromic albinism associated with mutations in AP3D1. Pigment Cell Melanoma Res. 2017;30:5-7 pubmed publisher
  17. 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
  18. 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. ..
  19. 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. ..
  20. 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. ..
  21. 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
  22. 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. ..
  23. 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. ..
  24. 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
  25. 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. ..
  26. 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
  27. 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. ..
  28. 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
  29. 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. ..
  30. 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. ..
  31. 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. ..
  32. 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. ..
  33. 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. ..