Recombinant Human Hermansky-Pudlak syndrome 5 protein (HPS5), Truncated

Uniprot Id

Q9UPZ3

Target Species

Human

Target Name

HPS5

Target Full Name

BLOC-2 complex member HPS5

Target Function

May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins.

Target Involvement

Hermansky-Pudlak syndrome 5 (HPS5)

Target Subcellular Location

Cytoplasm, cytosol.

Target Protein Families

HPS5 family

Target Tissue Specificity

Widely expressed. Isoform 1:Highly expressed in lungs and testis. Isoform 2:Highly expressed in placenta, kidney, testis ovary, lung and thymus.

Target Synonyms

HPS5; AIBP63; KIAA1017; Hermansky-Pudlak syndrome 5 protein; Alpha-integrin-binding protein 63; Ruby-eye protein 2 homolog; Ru2

Target Background

This gene 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.