Hermansky Pudlak Syndrome Protein 5 (HPS5)

HPS5 encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene.The predicted partial HPS5 sequence contains numerous putative phosphorylation sites for protein kinase A, protein kinase C, and casein kinase II, as well as a putative myristoylation site. HPS5 bound all alpha-integrin chains that had an aromatic amino acid before the first lysine of the conserved KXGFFKR motif, including alpha-2, alpha-3, alpha-3B, alpha-5, and alpha-6A.