HPS1 explained

Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.^{[1] [2] [3]}

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. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet.^[4]

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, Bailin T, Fukai K, etal . Positional cloning of a gene for Hermansky–Pudlak syndrome, a disorder of cytoplasmic organelles. . Nat. Genet. . 14 . 3 . 300–6 . 1996 . 8896559 . 10.1038/ng1196-300 . 25296741 .
• Bailin T, Oh J, Feng GH, etal . Organization and nucleotide sequence of the human Hermansky–Pudlak syndrome (HPS) gene. . J. Invest. Dermatol. . 108 . 6 . 923–7 . 1997 . 9182823 . 10.1111/1523-1747.ep12294634 . free .
• 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 .
• Wildenberg SC, Fryer JP, Gardner JM, etal . Identification of a novel transcript produced by the gene responsible for the Hermansky–Pudlak syndrome in Puerto Rico. . J. Invest. Dermatol. . 110 . 5 . 777–81 . 1998 . 9579545 . 10.1046/j.1523-1747.1998.00183.x . free .
• Dell'Angelica EC, Aguilar RC, Wolins N, etal . Molecular characterization of the protein encoded by the Hermansky–Pudlak syndrome type 1 gene. . J. Biol. Chem. . 275 . 2 . 1300–6 . 2000 . 10625677 . 10.1074/jbc.275.2.1300 . free .
• Huizing M, Anikster Y, Gahl WA . Characterization of a partial pseudogene homologous to the Hermansky–Pudlak syndrome gene HPS-1; relevance for mutation detection. . Hum. Genet. . 106 . 3 . 370–3 . 2000 . 10798370 . 10.1007/s004390051053 . 2024-02-07 .
• Horikawa T, Araki K, Fukai K, etal . Heterozygous HPS1 mutations in a case of Hermansky–Pudlak syndrome with giant melanosomes. . Br. J. Dermatol. . 143 . 3 . 635–40 . 2000 . 10971344 . 10.1111/j.1365-2133.2000.03725.x . 9586360 .
• Suzuki T, Li W, Zhang Q, etal . Hermansky–Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. . Nat. Genet. . 30 . 3 . 321–4 . 2002 . 11836498 . 10.1038/ng835 . 2470873 .
• Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA . Hermansky–Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. . Hum. Mutat. . 20 . 6 . 482 . 2002 . 12442288 . 10.1002/humu.9097 . 9313514 . free .
• 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 .
• Chiang PW, Oiso N, Gautam R, etal . The Hermansky–Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. . J. Biol. Chem. . 278 . 22 . 20332–7 . 2003 . 12663659 . 10.1074/jbc.M300090200 . free .
• Martina JA, Moriyama K, Bonifacino JS . BLOC-3, a protein complex containing the Hermansky–Pudlak syndrome gene products HPS1 and HPS4. . J. Biol. Chem. . 278 . 31 . 29376–84 . 2003 . 12756248 . 10.1074/jbc.M301294200 . 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 .
• Kobashi Y, Yoshida K, Miyashita N, etal . Hermansky–Pudlak syndrome with interstitial pneumonia without mutation of HSP1 gene. . Intern. Med. . 44 . 6 . 616–21 . 2005 . 16020891 . 10.2169/internalmedicine.44.616 . 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. Fukai K, Oh J, Frenk E, Almodovar C, Spritz RA . Linkage disequilibrium mapping of the gene for Hermansky–Pudlak syndrome to chromosome 10q23.1-q23.3 . Hum Mol Genet . 4 . 9 . 1665–9 . Feb 1996 . 8541858 . 10.1093/hmg/4.9.1665 .
2. Wildenberg SC, Oetting WS, Almodovar C, Krumwiede M, White JG, King RA . A gene causing Hermansky–Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2 . Am J Hum Genet . 57 . 4 . 755–65 . Nov 1995 . 7573033 . 1801499 .
3. Web site: Entrez Gene: HPS1 Hermansky–Pudlak syndrome 1.
4. Web site: Entrez Gene: HPS1 Hermansky–Pudlak syndrome 1.