Biogenesis Of Lysosomal Organelles Complex 1, Subunit 1 (BLOC1S1)

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.

The 545-bp cDNA, termed GCN5L1, encodes a 126-amino acid polypeptide having 23.5% identity to yeast GCN5. Northern blot analysis revealed transcription of this gene in all human tissues examined.The deduced BLOS1 protein contains coiled-coil regions and has a calculated molecular mass of 14.3 kD. Western blot analysis detected endogenous HeLa cell BLOS1 at an apparent molecular mass of 13 kD.