Sequence Detail

ID/Version

Q8R015 Q3TCP2 Q8CAC9 (UniProt | EBI)

Last sequence update: 2002-06-01
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 5; Short=BLOC-1 subunit 5;AltName: Full=Protein Muted homolog;

Provider

SWISS-PROT

Sequence

Polypeptide 185 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Bloc1s5	biogenesis of lysosomal organelles complex-1, subunit 5, muted	26	96	3	11

Sequence references in MGI

J:75830 Zhang Q, 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 Mar 15;11(6):697-706
J:83960 Ciciotte SL, 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 Jun 1;101(11):4402-7
J:85123 Li W, 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 Sep;35(1):84-9
J:88019 Falcon-Perez JM, et al., BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. J Biol Chem. 2002 Aug 2;277(31):28191-9
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:114481 Salazar G, et al., BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes. Mol Biol Cell. 2006 Sep;17(9):4014-26
J:187545 Larimore J, et al., The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse. Mol Biol Cell. 2011 Dec;22(24):4854-67
J:188897 Ghiani CA, et al., The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth. Mol Psychiatry. 2010 Feb;15(2):115, 204-15
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89