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Hermansky-Pudlak syndrome 3

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. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HPS, HPS6, Ru2, HAD, tyrosinase
Papers on HPS3
Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).
Cadilla et al., San Juan, Puerto Rico. In Ophthalmic Genet, Sep 2015
Patients underwent genetic analysis of selected albinism (Tyrosine and P gene) and HPS genes (HPS-1 and HPS-3) by screening for common mutations and exon sequencing with DNA screening.
Structural characterization and stimulating effect on osteoblast differentiation of a purified heteropolysaccharide isolated from Hedysarum polybotrys.
Xia et al., Lanzhou, China. In Carbohydr Polym, 2014
The information about HPS3d, the main fraction of HPS3, and its effect on bone is still unknown.
snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5.
Gross et al., Austin, United States. In Genetics, 2013
Through in vitro coexpression assays, we demonstrate that Hps5I76N retains the ability to bind its protein complex partners, Hps3 and Hps6.
[Study on molecular characteristics of four components contained in Hedysari Radix polysaccharide by gel permeation chromatography-multiangle laser light scattering technology (GPC-MALLS)].
Feng et al., Lanzhou, China. In Zhongguo Zhong Yao Za Zhi, 2012
OBJECTIVE: To determine such molecular characteristic parameters as absolute molecular weight, molecular weight distribution, root-mean-square turning radius (Rg) and polydispersity index (Mw/Mn) of four components contained in Hedysari Radix polysaccharide 3 (HPS-3) and map weight-average molecular weight (Mw) with root-mean-square turning radius (Rg), in order to calculate conformations of the four components at solution state.
Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico.
Santiago-Borrero et al., San Juan, Puerto Rico. In J Pediatr Hematol Oncol, 2010
Patients who are not easily identified by physical characteristics (mostly HPS-3 patients) may have hemorrhagic complications with trauma or surgery.
Antidiabetic properties of purified polysaccharide from Hedysarum polybotrys.
Wang et al., Lanzhou, China. In Can J Physiol Pharmacol, 2010
The aim of this study was to determine the antidiabetic properties of 4 purified fractions of different molecular weight range HPSs (HPS1, HPS2, HPS3, HPS4).
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.
Gahl et al., Bethesda, United States. In J Med Genet, 2009
CONCLUSION: The HPS-6 subtype resembles other BLOC-2 defective subtypes (that is, HPS-3 and HPS-5) in its molecular, cellular and clinical findings.
Platelet dense-granule secretion plays a critical role in thrombosis and subsequent vascular remodeling in atherosclerotic mice.
Reed et al., Boston, United States. In Circulation, 2009
METHODS AND RESULTS: Functional deletion of the Hermansky-Pudlak syndrome 3 gene (HPS3(-/-)) markedly reduces platelet dense-granule secretion.
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting.
Helip-Wooley et al., Bethesda, United States. In Ann Hum Genet, 2009
Specifically, BLOC-2 contains the HPS3, HPS5 and HPS6 proteins.
Genetic determinants of hair and eye colours in the Scottish and Danish populations.
Jackson et al., Edinburgh, United Kingdom. In Bmc Genet, 2008
A previously unreported association with the HPS3 gene was seen in the Scottish population.
Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3.
Gahl et al., Cincinnati, United States. In Am J Pathol, 2005
A specific subset of melanocyte proteins are aberrantly trafficked throughout the HPS-3 melanocyte and may be responsible for the reduction in melanin synthesis.
Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin.
Huizing et al., Bethesda, United States. In Bmc Cell Biol, 2004
HPS3 associates with clathrin, predominantly on small clathrin-containing vesicles in the perinuclear region. This association most likely occurs directly via a functional clathrin-binding domain in HPS3.
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.
Dell'Angelica et al., Los Angeles, United States. In Traffic, 2004
Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease.
Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
Dell'Angelica et al., Los Angeles, United States. In Proc Natl Acad Sci U S A, 2003
HPS4 but not HPS3 associates with HPS1 in a complex, which we term biogenesis of lysosome-related organelles complex 3 (BLOC-3)
Hermansky-Pudlak syndrome: vesicle formation from yeast to man.
Gahl et al., Bethesda, United States. In Pigment Cell Res, 2002
Four such genes, HPS1, ADTB3A, HPS3, and HPS4, are associated with the four known subtypes of HPS, i.e.
Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.
Gahl et al., Bethesda, United States. In Curr Mol Med, 2002
Description of mutations in HPS genes that cause Hermansky-Pudlak syndrome (review)
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
Spritz et al., Denver, United States. In Nat Genet, 2002
HPS is common in Puerto Rico, where it is caused by mutations in the genes HPS1 and, less often, HPS3 (ref.
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.
Toro et al., Bethesda, United States. In Nat Genet, 2001
The gene, HPS3, has 17 exons, and a putative 113.7-kD product expected to reveal how new vesicles form in specialized cells.
Hermansky-Pudlak Syndrome
Huizing et al., Seattle, United States. In Unknown Journal, 2000
Pathogenic variants in HPS1, AP3B1 (HPS2), HPS3, HPS4, HPS5, HPS6, DTNBP1 (HPS7), BLOC1S3 (HPS8), and BLOC1S6 (PLDN) are known to cause HPS.
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