BLOC1S1
Description
The BLOC1S1 (biogenesis of lysosomal organelles complex 1 subunit 1) is a protein-coding gene located on chromosome 12.
Biogenesis of lysosome-related organelles complex 1 subunit 1 is a protein that in humans is encoded by the BLOC1S1 gene. BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004).[supplied by OMIM] BLOC1S1 has been shown to interact with BLOC1S2, SNAPAP and PLDN.
BLOC1S1 is a component of the BLOC-1 complex, which is essential for the proper formation of lysosome-related organelles (LROs), including platelet dense granules and melanosomes. Working together with the AP-3 complex, BLOC-1 directs membrane protein cargo into vesicles that are assembled in the cell body and then transported to neurites and nerve terminals. Additionally, in conjunction with SNARE proteins, the BLOC-1 complex is believed to play a role in neurite extension. As part of the BORC complex, BLOC1S1 is thought to contribute to the movement and positioning of lysosomes at the cell periphery. This complex may bind to the cytosolic side of lysosomes, recruiting ARL8B and connecting lysosomes to kinesin motors that move along microtubules.
BLOC1S1 is also known as BLOS1, BORCS1, GCN5L1, MICoA, RT14.
