Hermansky Pudlak Syndrome Protein 3 (HPS3)

HPS3 encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes.

The HPS3 protein contains a potential clathrin-binding motif at residues 172 to 176, 2 consensus dileucine signals, and 12 tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. Northern blot analysis demonstrated a 4.4-kb message in all tissues tested, including heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas. Expression was greatest in kidney, with strong bands in liver and placenta.