HPS1

Hermansky-Pudlak syndrome 1
Identifiers
Symbols	HPS1 ; HPS; MGC5277
External IDs	Template:OMIM5 Template:MGI HomoloGene: 163
Gene ontology
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Hermansky-Pudlak syndrome 1, also known as HPS1, is a human gene.

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.

Further reading

• Huizing M, Gahl WA (2003). "Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes". Curr. Mol. Med. 2 (5): 451–67. PMID 12125811.
• Wildenberg SC, Oetting WS, Almodóvar C; et al. (1995). "A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2". Am. J. Hum. Genet. 57 (4): 755–65. PMID 7573033.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fukai K, Oh J, Frenk E; et al. (1996). "Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3". Hum. Mol. Genet. 4 (9): 1665–9. PMID 8541858.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 8896559.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 9182823.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Oh J, Ho L, Ala-Mello S; et al. (1998). "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. PMID 9497254.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 9579545.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 10625677.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 10798370.CS1 maint: Multiple names: authors list (link)
• 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. PMID 10971344.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 11836498.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12442288.CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12663659.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12756248.CS1 maint: Multiple names: authors list (link)
• Nazarian R, Falcón-Pérez JM, Dell'Angelica EC (2003). "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. doi:10.1073/pnas.1532040100. PMID 12847290.CS1 maint: Multiple names: authors list (link)
• 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. PMID 16020891.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 17365864.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)