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HPS1
Anti-HPS1 Recombinant Antibody Products
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For Research Use Only. Not For Clinical Use.
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22.
Protein class
Disease related genes, Human disease related genes
Predicted location
Intracellular
Single cell type specificity
Low cell type specificity
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Component of the biogenesis of lysosome-related organelles complex-3 (or BLOC-3), a heterodimer of HPS1 and HPS4 (PubMed:20048159, PubMed:23084991). HPS1 cannot but BLOC-3 complex (heterodimer of HPS1 and HPS4) can interact with the GTP-bound form of RAB9A and RAB9B. HPS1 and BLOC-3 complex do not interact with the GDP-bound form of RAB9A and RAB9B (PubMed:20048159).
Molecular function
Guanine-nucleotide releasing factor
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