BLOC1S6

BLOC1S6 may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. A pseudogene related to this gene is located on the X chromosome.

Full Name

Biogenesis Of Lysosomal Organelles Complex 1 Subunit 6

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. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process.

Biological Process

Anterograde axonal transport Source: UniProtKB
Anterograde synaptic vesicle transport Source: UniProtKB
Endosome to melanosome transport Source: UniProtKB
Intracellular transport Source: GO_Central
Melanosome organization Source: UniProtKB
Melanosome transport Source: UniProtKB
Neuron projection development Source: UniProtKB
Positive regulation of pigment cell differentiation Source: UniProtKB
Post-Golgi vesicle-mediated transport Source: Reactome
Synaptic vesicle docking Source: UniProtKB

Cellular Location

Cytoplasm; Membrane. It can exist as a soluble protein as well as a peripheral membrane protein (PubMed:12019270).

Involvement in disease

Hermansky-Pudlak syndrome 9 (HPS9): A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.

PTM

Phosphorylated.