Hermansky-Pudlak syndrome 5 protein (alpha-integrin-binding protein 63, Ruby-eye protein 2 homolog, Ru2, HPS5, AIBP63, KIAA1017)

Function

• regulates synthesis & function of lysosomes (putative)
• regulates synthesis & function of specialized organelles, i.e melanosomes & platelet dense granules (putative)
• regulation of general functions of integrins (putative)
• directly interacts with HPS6 in a complex known as biogenesis of lysosome-related organelles complex-2 (BLOC2)
• interacts with all alpha-integrin chains that have an aromatic residue before the 1st Lys of the conserved KXGFFKR motif, including ITGA2, ITGA3, ITGA5, ITGA6 (putative)

Alternative splicing

named isoforms=2

Expression

• widely expressed
• highest expression in liver, spinal cord, testis, thalamus

Pathology

• defects in HPS5 are the cause of Hermansky-Pudlak syndrome 5

More general terms

• Hermansky-Pudlak syndrome 1 protein (HPS1, HPS)

Component of

• biogenesis of lysosome-related organelles complex-2 (BLOCK2)

Database

• OMIM: https://mirror.omim.org/entry/203300
• OMIM: https://mirror.omim.org/entry/607521
• UniProt: http://www.uniprot.org/uniprot/Q9UPZ3.html