HPS3

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Hermansky-Pudlak syndrome 3
Identifiers
Symbol(s) HPS3; DKFZp686F0413; FLJ22704; SUTAL
External IDs OMIM: 606118 MGI: 2153839 HomoloGene: 13019
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 84343 12807
Ensembl ENSG00000163755 ENSMUSG00000027615
Uniprot Q969F9 Q3TAA3
Refseq NM_032383 (mRNA)
NP_115759 (protein)		 NM_080634 (mRNA)
NP_542365 (protein)
Location Chr 3: 150.33 - 150.37 Mb Chr 3: 20.19 - 20.23 Mb
Pubmed search [1] [2]

Hermansky-Pudlak syndrome 3, also known as HPS3, is a human 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.[1]

[edit] References

  1. ^ a b Entrez Gene: HPS3 Hermansky-Pudlak syndrome 3.

[edit] 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
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