Hermansky-Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1gene.[1][2][3]
This gene encodes a protein that may play a role in organellebiogenesis 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.[3]
References
↑Fukai K, Oh J, Frenk E, Almodovar C, Spritz RA (Feb 1996). "Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3". Hum Mol Genet. 4 (9): 1665–9. doi:10.1093/hmg/4.9.1665. PMID8541858.
Huizing M, Gahl WA (2003). "Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes". Curr. Mol. Med. 2 (5): 451–67. doi:10.2174/1566524023362357. PMID12125811.
Oh J, Bailin T, Fukai K, et al. (1996). "Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles". Nat. Genet. 14 (3): 300–6. doi:10.1038/ng1196-300. PMID8896559.
Bailin T, Oh J, Feng GH, et al. (1997). "Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene". J. Invest. Dermatol. 108 (6): 923–7. doi:10.1111/1523-1747.ep12294634. PMID9182823.
Wildenberg SC, Fryer JP, Gardner JM, et al. (1998). "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. doi:10.1046/j.1523-1747.1998.00183.x. PMID9579545.
Dell'Angelica EC, Aguilar RC, Wolins N, et al. (2000). "Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene". J. Biol. Chem. 275 (2): 1300–6. doi:10.1074/jbc.275.2.1300. PMID10625677.
Huizing M, Anikster Y, Gahl WA (2000). "Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection". Hum. Genet. 106 (3): 370–3. doi:10.1007/s004390051053. PMID10798370.
Horikawa T, Araki K, Fukai K, et al. (2000). "Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes". Br. J. Dermatol. 143 (3): 635–40. doi:10.1111/j.1365-2133.2000.03725.x. PMID10971344.
Suzuki T, Li W, Zhang Q, et al. (2002). "Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene". Nat. Genet. 30 (3): 321–4. doi:10.1038/ng835. PMID11836498.
Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA (2002). "Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases". Hum. Mutat. 20 (6): 482. doi:10.1002/humu.9097. PMID12442288.
Chiang PW, Oiso N, Gautam R, et al. (2003). "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. doi:10.1074/jbc.M300090200. PMID12663659.
Martina JA, Moriyama K, Bonifacino JS (2003). "BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4". J. Biol. Chem. 278 (31): 29376–84. doi:10.1074/jbc.M301294200. PMID12756248.
Kobashi Y, Yoshida K, Miyashita N, et al. (2005). "Hermansky-Pudlak syndrome with interstitial pneumonia without mutation of HSP1 gene". Intern. Med. 44 (6): 616–21. doi:10.2169/internalmedicine.44.616. PMID16020891.
Huizing M, Parkes JM, Helip-Wooley A, et al. (2007). "Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome". Platelets. 18 (2): 150–7. doi:10.1080/13576500600936039. PMID17365864.
