Genomes and Genes
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
- Orn A, Håkansson 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. ..
- 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. ..
- 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...
- 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. ..
- 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...
- Gibb S, Håkansson 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