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Gene Review

Ap3d1  -  adaptor-related protein complex 3, delta 1...

Mus musculus

Synonyms: AA407035, AP-3 complex subunit delta, AP-3 complex subunit delta-1, Adaptor-related protein complex 3 subunit delta-1, Ap3d, ...
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Disease relevance of Ap3d1

  • The mouse mutant mocha, a model for the Hermansky-Pudlak storage pool deficiency syndrome, is characterized by defective platelets, coat and eye color dilution, lysosomal abnormalities, inner ear degeneration, and neurological deficits [1].
  • A mouse cDNA (mBLVR1) which was highly homologous to the bovine cDNA of the bovine leukemia virus receptor (BLVR) gene was cloned [2].
  • Mice mutant for a second allele, mh(2J), are as hyperactive as mh, and display both spike wave absence and generalized tonic clonic seizures, but have less coat color dilution, no hearing loss, and no hypersynchronized EEG [3].
  • Using mocha mice, which are deficient in functional AP-3, we identify an AP-3-dependent tetanus neurotoxin-resistant asynchronous release that can be evoked at hippocampal mossy fiber (MF) synapses [4].
  • All mutants, except mocha and achondroplasia, displayed normal mating behavior [5].

High impact information on Ap3d1

  • Whereas the mocha and pearl SPD mutants have defects in Ap-3, our findings suggest that pa SPD mutants are defective in a more downstream event of vesicle-trafficking: namely, vesicle-docking and fusion [6].
  • In mocha brain, the ZnT-3 transporter is reduced, resulting in a lack of zinc-associated Timm historeactivity in hippocampal mossy fibers [1].
  • Here, we show that mocha is a null allele of the delta subunit of the adaptor-like protein complex AP-3, which is associated with coated vesicles budding from the trans-Golgi network, and that AP-3 is missing in mocha tissues [1].
  • Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles [1].
  • In addition, quantal release in mocha cultures is more frequent and more sensitive to sucrose [4].

Biological context of Ap3d1

  • We examined retinal function and histology of the mocha mutant [7].
  • We found that not only mocha homozygotes but also other littermates in the inbred strain are blind due to severe defects in both rod and cone photoreceptors on electroretinogram recordings [7].
  • The mBLVR1 cDNA, of 4,730 bp, covered nearly the full length of the mRNA (about 5 kb) and included an open reading frame (ORF) encoding a protein of 1,199 amino acids [2].
  • Depth electrode recordings of hippocampal auditory evoked potentials revealed that the response to the first of two paired tones was significantly enhanced in mocha and mocha2J, as compared with littermate controls [8].
  • Mouse models deficient in AP-3, mocha, develop a neurological phenotype of which the central feature is an alteration of the luminal synaptic vesicle composition [9].

Anatomical context of Ap3d1

  • Mocha (mh) is one of several recessive mouse mutants characterized by platelet storage pool disorder, pigment abnormalities, reduced fertility, kidney function deficiencies, and, in some mutants, inner ear and natural killer cell deficiencies [10].
  • Photoreceptor degeneration and rd1 mutation in the grizzled/mocha mouse strain [7].
  • The pearl (HPS2) and mocha genes encode the beta3A and delta subunits, respectively, of the AP-3 adaptor complex, which captures organelle membrane proteins at the trans-Golgi apparatus [11].
  • The trans-Golgi/endosome adaptor-related complex AP-3 is missing in mh mice owing to a deletion in the gene encoding the delta subunit [3].
  • Intracellular transport of MHC class II and associated invariant chain in antigen presenting cells from AP-3-deficient mocha mice [12].

Associations of Ap3d1 with chemical compounds


Other interactions of Ap3d1


  1. Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Kantheti, P., Qiao, X., Diaz, M.E., Peden, A.A., Meyer, G.E., Carskadon, S.L., Kapfhamer, D., Sufalko, D., Robinson, M.S., Noebels, J.L., Burmeister, M. Neuron (1998) [Pubmed]
  2. 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. Suzuki, T., Ikeda, H. J. Virol. (1998) [Pubmed]
  3. Genetic and phenotypic analysis of the mouse mutant mh2J, an Ap3d allele caused by IAP element insertion. Kantheti, P., Diaz, M.E., Peden, A.E., Seong, E.E., Dolan, D.F., Robinson, M.S., Noebels, J.L., Burmeister, M.L. Mamm. Genome (2003) [Pubmed]
  4. Loss of AP-3 function affects spontaneous and evoked release at hippocampal mossy fiber synapses. Scheuber, A., Rudge, R., Danglot, L., Raposo, G., Binz, T., Poncer, J.C., Galli, T. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  5. Epididymal protein synthesis and secretion in strains of mice bearing single gene mutations which affect fertility. Holland, M.K., Orgebin-Crist, M.C. Biol. Reprod. (1988) [Pubmed]
  6. The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. Huang, L., Kuo, Y.M., Gitschier, J. Nat. Genet. (1999) [Pubmed]
  7. Photoreceptor degeneration and rd1 mutation in the grizzled/mocha mouse strain. Qiao, X., Pennesi, M., Seong, E., Gao, H., Burmeister, M., Wu, S.M. Vision Res. (2003) [Pubmed]
  8. Hippocampal auditory gating in the hyperactive mocha mouse. Miller, C.L., Burmeister, M., Stevens, K.E. Neurosci. Lett. (1999) [Pubmed]
  9. AP-3-dependent mechanisms control the targeting of a chloride channel (ClC-3) in neuronal and non-neuronal cells. Salazar, G., Love, R., Styers, M.L., Werner, E., Peden, A., Rodriguez, S., Gearing, M., Wainer, B.H., Faundez, V. J. Biol. Chem. (2004) [Pubmed]
  10. Genetic map of the region around grizzled (gr) and mocha (mh) on mouse chromosome 10, homologous to human 19p13.3. Kapfhamer, D., Burmeister, M. Genomics (1994) [Pubmed]
  11. Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome. Swank, R.T., Novak, E.K., McGarry, M.P., Zhang, Y., Li, W., Zhang, Q., Feng, L. Pigment Cell Res. (2000) [Pubmed]
  12. Intracellular transport of MHC class II and associated invariant chain in antigen presenting cells from AP-3-deficient mocha mice. Sevilla, L.M., Richter, S.S., Miller, J. Cell. Immunol. (2001) [Pubmed]
  13. Trace metals and otolith defects in mocha mice. Rolfsen, R.M., Erway, L.C. J. Hered. (1984) [Pubmed]
  14. Abundance of zinc ions in synaptic terminals of mocha mutant mice: zinc transporter 3 immunohistochemistry and zinc sulphide autometallography. Stoltenberg, M., Nejsum, L.N., Larsen, A., Danscher, G. J. Mol. Histol. (2004) [Pubmed]
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