HPS3 explained

Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.^[1]

This gene 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. Mutations in this gene are associated with Hermansky–Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined.^[2]

External links

• GeneReviews/NCBI/NIH/UW entry on Hermansky–Pudlak syndrome

Further reading

• Huizing M, Gahl WA . Disorders of vesicles of lysosomal lineage: the Hermansky–Pudlak syndromes. . Curr. Mol. Med. . 2 . 5 . 451–67 . 2003 . 12125811 . 10.2174/1566524023362357 .
• Oh J, Ho L, Ala-Mello S, etal . Mutation analysis of patients with Hermansky–Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity . Am. J. Hum. Genet. . 62 . 3 . 593–8 . 1998 . 9497254 . 10.1086/301757 . 1376951 .
• Huizing M, Anikster Y, Fitzpatrick DL, etal . Hermansky–Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency . Am. J. Hum. Genet. . 69 . 5 . 1022–32 . 2001 . 11590544 . 10.1086/324168 . 1274349 .
• Suzuki T, Li W, Zhang Q, etal . The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky–Pudlak syndrome-3 gene . Genomics . 78 . 1–2 . 30–7 . 2002 . 11707070 . 10.1006/geno.2001.6644 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Nazarian R, Falcón-Pérez JM, Dell'Angelica EC . Biogenesis of lysosome-related organelles complex 3 (BLOC-3): A complex containing the Hermansky–Pudlak syndrome (HPS) proteins HPS1 and HPS4 . Proc. Natl. Acad. Sci. U.S.A. . 100 . 15 . 8770–5 . 2003 . 12847290 . 10.1073/pnas.1532040100 . 166388 . 2003PNAS..100.8770N . free .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC . Characterization of BLOC-2, a complex containing the Hermansky–Pudlak syndrome proteins HPS3, HPS5 and HPS6 . Traffic . 5 . 4 . 276–83 . 2004 . 15030569 . 10.1111/j.1600-0854.2004.0171.x . 20584286 . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Boissy RE, Richmond B, Huizing M, etal . Melanocyte-Specific Proteins Are Aberrantly Trafficked in Melanocytes of Hermansky–Pudlak Syndrome-Type 3 . Am. J. Pathol. . 166 . 1 . 231–40 . 2005 . 15632015 . 10.1016/S0002-9440(10)62247-X. 1602298 .
• Helip-Wooley A, Westbroek W, Dorward H, etal . Association of the Hermansky–Pudlak syndrome type-3 protein with clathrin . BMC Cell Biol. . 6. 33 . 2006 . 16159387 . 10.1186/1471-2121-6-33 . 1249560 . free .
• Huizing M, Parkes JM, Helip-Wooley A, etal . Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky–Pudlak syndrome . Platelets . 18 . 2 . 150–7 . 2007 . 17365864 . 10.1080/13576500600936039 . 32161968 .

Notes and References

1. Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR . Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico . Nat Genet . 28 . 4 . 376–80 . Jul 2001 . 11455388 . 10.1038/ng576 . 418425 .
2. Web site: Entrez Gene: HPS3 Hermansky–Pudlak syndrome 3.