HPS3

Hermansky-Pudlak syndrome 3
Identifiers
Symbols	HPS3 ; SUTAL
External IDs	OMIM: 606118 MGI: 2153839 HomoloGene: 13019 GeneCards: HPS3 Gene
Gene ontology Cellular component • BLOC-2 complex Biological process • organelle organization • pigmentation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	84343	12807
Ensembl	ENSG00000163755	ENSMUSG00000027615
UniProt	Q969F9	Q91VB4
RefSeq (mRNA)	NM_001308258	NM_001146323
RefSeq (protein)	NP_001295187	NP_001139795
Location (UCSC)	Chr 3: 149.13 – 149.17 Mb	Chr 3: 20 – 20.04 Mb
PubMed search

Hermansky-Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.^[1][2]

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.^[2]

External links

• GeneReviews/NCBI/NIH/UW entry on Hermansky-Pudlak Syndrome

References

1. Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR (Jul 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.
2. "Entrez Gene: HPS3 Hermansky-Pudlak syndrome 3".

Further reading

• 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. 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. doi:10.1086/301757. PMC 1376951. PMID 9497254.
• 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. doi:10.1086/324168. PMC 1274349. 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. PMC 139241. 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. PMC 166388. 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. PMC 528928. 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. doi:10.1016/S0002-9440(10)62247-X. PMC 1602298. 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. PMC 1249560. 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.