BLOC1S4

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]

Full Name

Biogenesis Of Lysosomal Organelles Complex 1 Subunit 4

Function

Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking.

Biological Process

Anterograde axonal transport Source: UniProtKB
Anterograde synaptic vesicle transport Source: UniProtKB
Melanosome organization Source: UniProtKB
Neuromuscular process controlling balance Source: Ensembl
Neuron projection development Source: UniProtKB
Platelet aggregation Source: Ensembl
Post-Golgi vesicle-mediated transport Source: Reactome

Cellular Location

Cytoplasm