Genomes and Genes
Gene Symbol: Ap3d1
Description: adaptor-related protein complex 3, delta 1 subunit
Alias: AA407035, Ap3d, Bolvr, mBLVR1, mocha, AP-3 complex subunit delta-1, AP-3 complex subunit delta, adapter-related protein complex 3 subunit delta-1, adaptor-related protein complex 3 subunit delta-1, adaptor-related protein complex 3, delta subunit, adaptor-related protein complex AP-3, delta subunit, delta-adaptin
- Kantheti P, Diaz M, Peden A, Seong E, Dolan D, Robinson M, et al. Genetic and phenotypic analysis of the mouse mutant mh2J, an Ap3d allele caused by IAP element insertion. Mamm Genome. 2003;14:157-67 pubmedb>Mocha (mh), a mouse model for Hermansky-Pudlak syndrome (HPS), is characterized by platelet storage pool deficiency, pigment dilution, and deafness as well as neurological abnormalities...
- Newell Litwa K, Chintala S, Jenkins S, Pare J, McGaha L, Smith Y, et al. Hermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially regulate presynaptic composition in the striatum and hippocampus. J Neurosci. 2010;30:820-31 pubmed publisher..In the striatum, loss of AP-3 (Ap3d(mh/mh)) resulted in decreased synaptic vesicle size...
- Sevilla L, Richter S, Miller J. Intracellular transport of MHC class II and associated invariant chain in antigen presenting cells from AP-3-deficient mocha mice. Cell Immunol. 2001;210:143-53 pubmed..In this report, we have assessed class II-invariant chain trafficking in a strain of mice (mocha) which lacks expression of AP-3...
- Seong E, Wainer B, Hughes E, Saunders T, Burmeister M, Faundez V. Genetic analysis of the neuronal and ubiquitous AP-3 adaptor complexes reveals divergent functions in brain. Mol Biol Cell. 2005;16:128-40 pubmed..Our results suggest that concerted nonredundant functions of neuronal and ubiquitous AP-3 provide a mechanism to control the levels of selected membrane proteins in synaptic vesicles. ..
- Grabner C, Price S, Lysakowski A, Cahill A, Fox A. Regulation of large dense-core vesicle volume and neurotransmitter content mediated by adaptor protein 3. Proc Natl Acad Sci U S A. 2006;103:10035-40 pubmed..AP-3 appears to localize in the trans-Golgi network and possibly immature secretory vesicles, where it may be involved in the formation of neurosecretory vesicles. ..
- Newell Litwa K, Seong E, Burmeister M, Faundez V. Neuronal and non-neuronal functions of the AP-3 sorting machinery. J Cell Sci. 2007;120:531-41 pubmed
- Meisler M, Kearney J, Ottman R, Escayg A. Identification of epilepsy genes in human and mouse. Annu Rev Genet. 2001;35:567-88 pubmed..The development of pharmaceuticals directed towards specific epilepsy genotypes can be anticipated, and the introduction of patient mutations into the mouse genome will provide models for testing these targeted therapies. ..
- Suzuki T, Ikeda H. The mouse homolog of the bovine leukemia virus receptor is closely related to the delta subunit of adaptor-related protein complex AP-3, not associated with the cell surface. J Virol. 1998;72:593-9 pubmedA mouse cDNA (mBLVR1) which was highly homologous to the bovine cDNA of the bovine leukemia virus receptor (BLVR) gene was cloned...
- Kapfhamer D, Burmeister M. Genetic map of the region around grizzled (gr) and mocha (mh) on mouse chromosome 10, homologous to human 19p13.3. Genomics. 1994;23:635-42 pubmedGrizzled (gr) is a recessive mouse mutation resulting in a gray coat color and reduced perinatal viability. Mocha (mh) is one of several recessive mouse mutants characterized by platelet storage pool disorder, pigment abnormalities, ..
- 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
- Concepcion D, Flores García L, Hamilton B. Multipotent genetic suppression of retrotransposon-induced mutations by Nxf1 through fine-tuning of alternative splicing. PLoS Genet. 2009;5:e1000484 pubmed publisher..suppresses a specific and frequent class of intracisternal A particle (IAP)-induced mutations, including Ap3d1(mh2J), a model for Hermansky-Pudlak syndrome, and Atcay(hes), an orthologous gene model for Cayman ataxia, among ..
- Crunelli V, Leresche N. Childhood absence epilepsy: genes, channels, neurons and networks. Nat Rev Neurosci. 2002;3:371-82 pubmed..Continuing efforts and comparisons of this type will help us to elucidate the multigenetic traits and pathophysiology of this form of generalized epilepsy. ..
- Feldmann A, Amphornrat J, Sch nherr M, Winterstein C, M bius W, Ruhwedel T, et al. Transport of the major myelin proteolipid protein is directed by VAMP3 and VAMP7. J Neurosci. 2011;31:5659-72 pubmed publisher..Analysis of VAMP3-deficient mice revealed no myelination defects. Interestingly, AP-3?-deficient mocha mice, which suffer from impaired secretion of lysosome-related organelles and missorting of VAMP7, exhibit a mild ..
- Larimore J, Tornieri K, Ryder P, Gokhale A, Zlatic S, Craige B, et al. The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse. Mol Biol Cell. 2011;22:4854-67 pubmed publisher..Our findings indicate a novel vesicle transport mechanism requiring BLOC-1 and AP-3 complexes for cargo sorting from neuronal cell bodies to neurites and nerve terminals...
- Barclay J, Rees M. Mouse models of spike-wave epilepsy. Epilepsia. 1999;40 Suppl 3:17-22 pubmed..The question this raises as to the validity of these models for human spike-wave epilepsy is considered. Finally, the effect these discoveries will have on the understanding and treatment of human spike-wave epilepsy are discussed. ..
- Aloia L, Di Stefano B, Sessa A, Morey L, Santanach A, Gutierrez A, et al. Zrf1 is required to establish and maintain neural progenitor identity. Genes Dev. 2014;28:182-97 pubmed publisher..Depletion of Zrf1 in vivo impairs the expression of key self-renewal regulators and Wnt ligand genes in RGCs. Thus, we demonstrate that Zrf1 plays an essential role in NPC generation and maintenance. ..
- Lane P, Deol M. Mocha, a new coat color and behavior mutation on chromosome 10 of the mouse. J Hered. 1974;65:362-4 pubmed
- Charles C, Abler A, Lau L. cDNA sequence of a growth factor-inducible immediate early gene and characterization of its encoded protein. Oncogene. 1992;7:187-90 pubmed..Using affinity-purified antibodies, we have identified the 3CH134 protein in serum-stimulated Balb/c 3T3 cells and determined that it has a short half-life. ..
- Gokhale A, Larimore J, Werner E, So L, Moreno De Luca A, Lese Martin C, et al. Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1. J Neurosci. 2012;32:3697-711 pubmed publisher..Thus, our quantitative proteomic studies expand the functional repertoire of the BLOC-1 complex and provide insight into putative molecular pathways of schizophrenia susceptibility. ..
- Kent H, Evans P, SchÃ¤fer I, Gray S, Sanderson C, Luzio J, et al. Structural basis of the intracellular sorting of the SNARE VAMP7 by the AP3 adaptor complex. Dev Cell. 2012;22:979-88 pubmed publisher..The absence of Î´-adaptin causes destabilization of the AP3 complex in mouse mocha fibroblasts and mislocalization of VAMP7...
- Misawa H, Fujigaya H, Nishimura T, Moriwaki Y, Okuda T, Kawashima K, et al. Aberrant trafficking of the high-affinity choline transporter in AP-3-deficient mice. Eur J Neurosci. 2008;27:3109-17 pubmed publisher..Here, we analyse the intracellular distribution of CHT in the adaptor protein-3 (AP-3)-deficient mouse model mocha. In the mocha mouse, granular structures in cell bodies are intensely labelled with CHT antibody, indicating ..
- Swank R, Reddington M, Howlett O, Novak E. Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. Blood. 1991;78:2036-44 pubmed..To determine if this association is common, two other mouse pigment mutants, muted and mocha, which are known to have inner ear abnormalities, were examined for hematologic abnormalities...
- Jones S, Johnson K, Yu H, Erway L, Alagramam K, Pollak N, et al. A quantitative survey of gravity receptor function in mutant mouse strains. J Assoc Res Otolaryngol. 2005;6:297-310 pubmed..Interestingly, some heterozygote groups also showed abnormalities in one or more VsEP response parameters, suggesting that vestibular dysfunction, although less severe, may be present in some heterozygous animals. ..
- Qiao X, Pennesi M, Seong E, Gao H, Burmeister M, Wu S. Photoreceptor degeneration and rd1 mutation in the grizzled/mocha mouse strain. Vision Res. 2003;43:859-65 pubmedThe mocha mouse is a spontaneous mutant carrying a defective adaptor-like protein complex AP-3delta subunit. We examined retinal function and histology of the mocha mutant...
- Friocourt G, Chafey P, Billuart P, Koulakoff A, Vinet M, Schaar B, et al. Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system. Mol Cell Neurosci. 2001;18:307-19 pubmed..Taken together these data indicate that a certain proportion of Doublecortin interacts with AP-1 and/or AP-2 in vivo and are consistent with a potential involvement of Doublecortin in protein sorting or vesicular trafficking. ..
- Salazar G, Craige B, Love R, Kalman D, Faundez V. Vglut1 and ZnT3 co-targeting mechanisms regulate vesicular zinc stores in PC12 cells. J Cell Sci. 2005;118:1911-21 pubmed..Our results suggest that the coupling of zinc transporter 3 and Vglut1 transport mechanisms regulates neurotransmitter content in secretory vesicles. ..
- Bendor J, Lizardi Ortiz J, Westphalen R, Brandstetter M, Hemmings H, Sulzer D, et al. AGAP1/AP-3-dependent endocytic recycling of M5 muscarinic receptors promotes dopamine release. EMBO J. 2010;29:2813-26 pubmed publisher..These results also suggest a novel therapeutic target for the treatment of dopaminergic dysfunction. ..
- Swank R, Novak E, McGarry M, Zhang Y, Li W, Zhang Q, et al. Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome. Pigment Cell Res. 2000;13 Suppl 8:59-67 pubmed..The pearl (HPS2) and mocha genes encode the beta3A and delta subunits, respectively, of the AP-3 adaptor complex, which captures organelle ..
- Miller C, Burmeister M, Stevens K. Hippocampal auditory gating in the hyperactive mocha mouse. Neurosci Lett. 1999;276:57-60 pubmedThe mouse mutants mocha (mh) and mocha2J (mh2J) result from separate mutations in the same gene (AP-3 delta) that arose independently on different backgrounds of inbred strains...
- Swank R, Novak E, McGarry M, Rusiniak M, Feng L. Mouse models of Hermansky Pudlak syndrome: a review. Pigment Cell Res. 1998;11:60-80 pubmed
- Muthusamy N, Faundez V, Bergson C. Calcyon, a mammalian specific NEEP21 family member, interacts with adaptor protein complex 3 (AP-3) and regulates targeting of AP-3 cargoes. J Neurochem. 2012;123:60-72 pubmed publisher..Altogether, our data suggest that calcyon directly interacts with ?3A and ?3B, and regulates the subcellular distribution of AP-3 and the targeting of AP-3 cargoes. ..
- Suzuki T, Yonekawa H, Ikeda H. Localization of mouse homolog of the bovine leukemia virus receptor gene on mouse chromosome 10. Mamm Genome. 1996;7:708-9 pubmed
- Rolfsen R, Erway L. Trace metals and otolith defects in mocha mice. J Hered. 1984;75:159-62 pubmedb>Mocha mice with pigment anomalies of the coat, eyes, and inner ears also have congenital otolith defects, and they exhibit progressive cochlear degeneration...
- Jones S, Erway L, Johnson K, Yu H, Jones T. Gravity receptor function in mice with graded otoconial deficiencies. Hear Res. 2004;191:34-40 pubmed..function in mutant mouse strains with variable deficits in otoconia: lethal milk (lm), pallid (pa), tilted (tlt), mocha (mh), and muted (mu). Control animals were either age-matched heterozygotes or C57BL/6J (abbr. B6) mice...
- Elewaut D, Lawton A, Nagarajan N, Maverakis E, Khurana A, Honing S, et al. The adaptor protein AP-3 is required for CD1d-mediated antigen presentation of glycosphingolipids and development of Valpha14i NKT cells. J Exp Med. 2003;198:1133-46 pubmed
- Baguma Nibasheka M, Kablar B. Altered retinal cell differentiation in the AP-3 delta mutant (Mocha) mouse. Int J Dev Neurosci. 2009;27:701-8 pubmed publisherAdaptor-related protein complex 3 delta 1 (Ap3d1) encodes the delta 1 subunit of an adaptor protein regulating intracellular vesicle-mediated transport, and the Ap3d-deletion mutant (Mocha) mouse undergoes rapid photoreceptor ..
- Chakkalakal J, Stocksley M, Harrison M, Angus L, Deschenes Furry J, St Pierre S, et al. Expression of utrophin A mRNA correlates with the oxidative capacity of skeletal muscle fiber types and is regulated by calcineurin/NFAT signaling. Proc Natl Acad Sci U S A. 2003;100:7791-6 pubmed..Together, these results indicate that expression of utrophin A is related to the oxidative capacity of muscle fibers, and implicate calcineurin and its effector NFAT in this mechanism. ..
- Sirkis D, Edwards R, Asensio C. Widespread dysregulation of peptide hormone release in mice lacking adaptor protein AP-3. PLoS Genet. 2013;9:e1003812 pubmed publisher..Indeed, mocha mice lacking AP-3 have a severe neurological and behavioral phenotype, but this has been attributed to a role for ..