Gene Symbol: BLOC1S3
Description: biogenesis of lysosomal organelles complex 1 subunit 3
Alias: BLOS3, HPS8, biogenesis of lysosome-related organelles complex 1 subunit 3, BLOC-1 subunit 3, biogenesis of lysosome-related organelles complex-1, subunit 3, reduced pigmentation, mouse, homolog of
Gong Y, Hu M, Xu S, Wang B, Wang C, Mu X, et al
. Comparative transcriptome analysis reveals expression signatures of albino Russian sturgeon, Acipenseriformes gueldenstaedtii. Mar Genomics. 2019;: pubmed publisher
..responsible for sturgeon albinism were identified, including Dct, Tyrp1b, Slc45a2, Ctns, Pmela, Pmelb, Cd63, and Bloc1s3, which were found to be significantly down-regulated in albino Russian sturgeon...
Moriyama K, Bonifacino J. Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles. Traffic. 2002;3:666-77 pubmed
..These observations indicate that pallidin is a subunit of a novel multi-protein complex involved in the biogenesis of lysosome-related organelles. ..
Ciciotte S, Gwynn B, Moriyama K, Huizing M, Gahl W, Bonifacino J, et al
. Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). Blood. 2003;101:4402-7 pubmed
Li W, Zhang Q, Oiso N, Novak E, Gautam R, O Brien E, et al
. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet. 2003;35:84-9 pubmed
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...
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
Seshadri S, Fitzpatrick A, Ikram M, Destefano A, Gudnason V, Boada M, et al
. Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA. 2010;303:1832-40 pubmed publisher
..06-1.21 per copy of the minor allele; P = 1.59x10(-11)) and rs597668 near EXOC3L2/BLOC1S3/MARK4 (OR, 1.18; 95% CI, 1.07-1.29; P = 6.45x10(-9))...
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
..contains one copy each of the eight subunits pallidin, Cappuccino, dysbindin, Snapin, Muted, BLOS1, BLOS2, and BLOS3. The complex appears as a linear chain of eight globular domains, ?300 Å long and ?30 Å in diameter...