Sequence Detail

ID/Version

Q8VED2 (UniProt | EBI)

Last sequence update: 2002-03-01
Last annotation update: 2024-05-29

Sequence description from provider

RecName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 4; Short=BLOC-1 subunit 4;AltName: Full=Protein cappuccino homolog;

Provider

SWISS-PROT

Sequence

Polypeptide 215 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	Bloc1s4	biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino	17	96	3	12

Sequence references in MGI

J:61187 Gwynn B, et al., Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism. Blood. 2000 Dec 15;96(13):4227-35
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: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