Gene Symbol: Bloc1s5
Description: biogenesis of lysosomal organelles complex 1 subunit 5
Alias: Muted, biogenesis of lysosome-related organelles complex 1 subunit 5, BLOC-1 subunit 5, biogenesis of lysosomal organelles complex-1, subunit 5, muted, protein Muted homolog
Lyon M, Meredith R. Muted, a new mutant affecting coat colour and otoliths of the mouse, and its position in linkage group XIV. Genet Res. 1969;14:163-6 pubmed
Zhang Q, Li W, Novak E, Karim A, Mishra V, Kingsmore S, et al
. The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking. Hum Mol Genet. 2002;11:697-706 pubmed
The muted (mu) mouse is a model for Hermansky-Pudlak Syndrome (HPS), an inherited disorder of humans causing hypopigmentation, hemorrhaging and early death due to lung abnormalities...
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
..of lysosome-related organelles complex-1), consisting of the proteins encoded at 2 mouse HPS loci, pallid (pa) and muted (mu), and at least 3 other unidentified proteins...
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
..The complex is known to contain the coiled-coil-forming proteins, Pallidin, Muted, Cappuccino, and Dysbindin...
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
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
..is an elongated complex that contains one copy each of the eight subunits pallidin, Cappuccino, dysbindin, Snapin, Muted, BLOS1, BLOS2, and BLOS3...