HPS3

Hermansky-Pudlak syndrome 3
Identifiers
Symbols	HPS3 ; DKFZp686F0413; FLJ22704; SUTAL
External IDs	Template:OMIM5 Template:MGI HomoloGene: 13019
Gene ontology Cellular component Template:GNF GO Biological process Template:GNF GO
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 3, also known as HPS3, is a human gene.

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.

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.
• 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)
• Anikster Y, Huizing M, White J; et al. (2001). "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. doi:10.1038/ng576. PMID 11455388.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Huizing M, Anikster Y, Fitzpatrick DL; et al. (2001). "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. PMID 11590544.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Suzuki T, Li W, Zhang Q; et al. (2002). "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. doi:10.1006/geno.2001.6644. PMID 11707070.CS1 maint: Explicit use of et al. (link) 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)
• 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)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC (2004). "Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6". Traffic. 5 (4): 276–83. doi:10.1111/j.1600-0854.2004.0171.x. PMID 15030569.CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Boissy RE, Richmond B, Huizing M; et al. (2005). "Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3". Am. J. Pathol. 166 (1): 231–40. PMID 15632015.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Helip-Wooley A, Westbroek W, Dorward H; et al. (2006). "Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin". BMC Cell Biol. 6: 33. doi:10.1186/1471-2121-6-33. PMID 16159387.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)