BLOC1S3

Summary

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
Species: human
Products:     BLOC1S3

Top Publications

  1. 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...
  2. 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. ..
  3. 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
  4. 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
  5. 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...
  6. 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...
  7. 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
  8. 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))...
  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...

More Information

Publications13

  1. Cullinane A, Curry J, Golas G, Pan J, Carmona Rivera C, Hess R, et al. A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8. Pigment Cell Melanoma Res. 2012;25:584-91 pubmed publisher
    ..Here, we describe the identification of a novel nonsense mutation in BLOC1S3 (HPS-8) in a 6-yr-old Iranian boy...
  2. Tao S, Zhang Y, Wang X, Xu L, Fang X, Lu Z, et al. The THO/TREX Complex Active in miRNA Biogenesis Negatively Regulates Root-Associated Acid Phosphatase Activity Induced by Phosphate Starvation. Plant Physiol. 2016;171:2841-53 pubmed publisher
    ..In this work, we identified an Arabidopsis (Arabidopsis thaliana) mutant, hps8, which exhibits enhanced APase activity on its root surface (also called root-associated APase activity)...