Gene Symbol: Bloc1s3
Description: biogenesis of lysosomal organelles complex-1, subunit 3
Alias: biogenesis of lysosome-related organelles complex 1 subunit 3, biogenesis of lysosome-related organelles complex-1, subunit 3
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
..Mutations in the human genes encoding Snapin and the BLOS proteins could underlie novel forms of HPS. ..
Lee H, Nemecek D, Schindler C, Smith W, Ghirlando R, Steven A, et al
. Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Biol Chem. 2012;287:5882-90 pubmed publisher
..The two subcomplexes appear to constitute flexible units within the larger BLOC-1 chain, an arrangement conducive to simultaneous interactions with multiple BLOC-1 partners in the course of tubular endosome biogenesis and sorting. ..
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. ..
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. ..
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. ..
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. ..
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
Morgan N, Pasha S, Johnson C, Ainsworth J, Eady R, Dawood B, et al
. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am J Hum Genet. 2006;78:160-6 pubmed
..A homozygous germline frameshift mutation in BLOC1S3 (p.Gln150ArgfsX75) was identified in all affected individuals...
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