Gene Symbol: Bloc1s3
Description: biogenesis of lysosomal organelles complex-1, subunit 3
Alias: BC043666, Blos3, E230011O18, biogenesis of lysosome-related organelles complex 1 subunit 3, BLOC-1 subunit 3, Bloc-1 complex component, Bloc1 subunit 3, biogenesis of lysosome-related organelles complex-1, subunit 3, reduced pigmentation protein
Species: mouse
Products:     Bloc1s3

Top Publications

  1. Falcon Perez J, Starcevic M, Gautam R, Dell Angelica E. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. J Biol Chem. 2002;277:28191-9 pubmed
    ..We propose that BLOC-1 mediates the biogenesis of lysosome-related organelles by a mechanism that may involve self-assembly and interaction with the actin cytoskeleton. ..
  2. Starcevic M, Dell Angelica E. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Biol Chem. 2004;279:28393-401 pubmed
    ..antibodies to detect endogenous proteins from human and mouse cells, we found that Snapin, BLOS1, BLOS2, and BLOS3 co-immunoprecipitate, and co-fractionate upon size exclusion chromatography, with previously known BLOC-1 subunits...
  3. Gwynn B, Martina J, Bonifacino J, Sviderskaya E, Lamoreux M, Bennett D, et al. Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. Blood. 2004;104:3181-9 pubmed
    ..Defects in all the 5 known components of BLOC-1, including RP, cause severe HPS in mice, suggesting that the subunits are nonredundant and that BLOC-1 plays a key role in organelle biogenesis. ..
  4. Di Pietro S, Falcon Perez J, Tenza D, Setty S, Marks M, Raposo G, et al. BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes. Mol Biol Cell. 2006;17:4027-38 pubmed
    ..These findings support the idea that BLOC-1 and -2 represent hitherto unknown components of the endosomal protein trafficking machinery. ..
  5. Setty S, Tenza D, Truschel S, Chou E, Sviderskaya E, Theos A, et al. BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. Mol Biol Cell. 2007;18:768-80 pubmed
  6. 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
    ..We propose that anatomically restricted mechanisms within the brain diversify the biogenesis and composition of synaptic vesicles. ..
  7. Ahmed F, Lundin L, Shire J. Lysosomal mutations increase susceptibility to anaesthetics. Experientia. 1989;45:1133-5 pubmed
    ..Homozygosity for either significantly increased the sleeping time of both sexes after treatment with pentobarbital, tribromoethanol or the steroid anaesthetic alphaxalone. ..
  8. Ahmed F, Shire J. Lysosomal mutations inhibit lipofuscinosis of the spleen in C57BL mice. J Hered. 1985;76:311-2 pubmed
    ..Dilute (d) homozygotes, with normal lysosomes, were susceptible to lipofuscinosis even though their melanosomes were more severely affected than those of beige mice. ..
  9. Daniel W, Harrison B, Nelson K. Genetic regulation of murine hepatic arylsulfatase B activity during development. J Hered. 1982;73:24-8 pubmed
    ..This liver-specific genetic element exerts a trans effect and acts by affecting the accumulation of arylsulfatase B molecules in liver tissue. ..

More Information


  1. Orn A, HÃ¥kansson E, Gidlund M, Ramstedt U, Axberg I, Wigzell H, et al. Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity. Scand J Immunol. 1982;15:305-10 pubmed
    ..This would indicate that pigment mutations with a parallel impact on lysosomal enzyme activities probably always result in a reduction in natural killer cell activity. ..
  2. Yamashita Y, Fukuta D, Tsuji A, Nagabukuro A, Matsuda Y, Nishikawa Y, et al. Genomic structures and chromosomal location of p91, a novel murine regulatory receptor family. J Biochem. 1998;123:358-68 pubmed
    ..The gene was found to be located on human chromosome 19q13.3-13.4. These results establish the existence of a novel set of potent regulatory receptors in mouse and man, similar but different from the KIR family. ..
  3. Nguyen T, Novak E, Kermani M, Fluhr J, Peters L, Swank R, et al. Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. J Invest Dermatol. 2002;119:1156-64 pubmed
    ..In contrast, the hypopigmentation seen in the gunmetal strain is due to the retention of melanosomes in melanocytes, and inefficient transfer into keratinocytes...
  4. Falcon Perez J, Nazarian R, Sabatti C, Dell Angelica E. Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3. J Cell Sci. 2005;118:5243-55 pubmed
    ..These results suggest that BLOC-3 function is required, directly or indirectly, for optimal attachment of late endocytic organelles to microtubule-dependent motors. ..
  5. Ghiani C, Starcevic M, Rodriguez Fernandez I, Nazarian R, Cheli V, Chan L, et al. The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth. Mol Psychiatry. 2010;15:115, 204-15 pubmed publisher
  6. 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...
  7. Gibb S, HÃ¥kansson E, Lundin L, Shire J. Reduced pigmentation (rp), a new coat colour gene with effects on kidney lysosomal glycosidases in the mouse. Genet Res. 1981;37:95-103 pubmed