HPS6

Summary

Gene Symbol: HPS6
Description: HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
Alias: BLOC2S3, Hermansky-Pudlak syndrome 6 protein, Hermansky-Pudlak syndrome-6 protein (HPS6), ruby-eye protein homolog
Species: human
Products:     HPS6

Top Publications

  1. Shahi R, De Brakeleer S, Caljon B, Pauwels I, Bonduelle M, Joris S, et al. Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families. BMC Cancer. 2019;19:313 pubmed publisher
    ..not yet clearly associated with familial cancer syndromes (ABCC11, BBS10, CD96, CYP1A1, DHCR7, DNAH11, ESCO2, FLT4, HPS6, MYH8, NME8 and TTC8)...
  2. Ma J, Wang R, Lam S, Zhang C, Shui G, Li W. Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids. Biosci Rep. 2019;39: pubmed publisher
    ..analyzed the plasma lipid profiles of three HPS mutant mice, pa (Hps9 -/-), ru (Hps6 -/-), ep (Hps1 -/-), and wild-type (WT) mice...
  3. Westmoreland D, Shaw M, Grimes W, Metcalf D, Burden J, Gomez K, et al. Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders. J Thromb Haemost. 2016;14:839-49 pubmed publisher
    ..Patients 1-3 have gene defects in HPS1, HPS6 and HPS5, respectively; all controls were healthy volunteers...
  4. Ma J, Zhang Z, Yang L, Kriston Vizi J, Cutler D, Li W. BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells. J Genet Genomics. 2016;43:686-693 pubmed publisher
    ..defective, but varying, release of VWF into plasma after desmopressin (DDAVP) stimulation in HPS1 (BLOC-3 subunit), HPS6 (BLOC-2 subunit), and HPS9 (BLOC-1 subunit) deficient mice...
  5. Nakayama T, Nakajima K, Cox A, Fisher M, Howell M, Fish M, et al. no privacy, a Xenopus tropicalis mutant, is a model of human Hermansky-Pudlak Syndrome and allows visualization of internal organogenesis during tadpole development. Dev Biol. 2017;426:472-486 pubmed publisher
    ..the causative genetic lesion as occurring in the Xenopus homolog of the human Hermansky-Pudlak Syndrome 6 (HPS6) gene, combining several approaches that utilized conventional gene mapping and classical and modern genetic tools ..
  6. Stephen J, Yokoyama T, Tolman N, O Brien K, Nicoli E, Brooks B, et al. Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. PLoS ONE. 2017;12:e0173682 pubmed publisher
    ..BLOC-2, for example, consists of the proteins HPS3, HPS5, and HPS6. Here we present an HPS patient with defective BLOC-2 due to a novel intronic mutation in HPS5 that activates a ..
  7. Sharda A, Kim S, Jasuja R, Gopal S, Flaumenhaft R, Furie B, et al. Defective PDI release from platelets and endothelial cells impairs thrombus formation in Hermansky-Pudlak syndrome. Blood. 2015;125:1633-42 pubmed publisher
    ..Platelet deposition and fibrin generation were nearly absent, and extracellular PDI was significantly reduced in HPS6(-/-) mice after vascular injury...
  8. Huizing M, Pederson B, Hess R, Griffin A, Helip Wooley A, Westbroek W, et al. Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. J Med Genet. 2009;46:803-10 pubmed publisher
    ..To characterise extensively the HPS-6 subtype, caused by defects in HPS6, a subunit of the biogenesis of lysosome related organelles complex-2 (BLOC-2)...
  9. Huang Z, Chinen M, Chang P, Xie T, Zhong L, Demetriou S, et al. Targeting protein-trafficking pathways alters melanoma treatment sensitivity. Proc Natl Acad Sci U S A. 2012;109:553-8 pubmed publisher
    ..e., increased resistance) to cDDP. Mutation of the protein-trafficking gene Hps6, known to impair the formation of mature melanosomes, also increased cDDP sensitivity...

More Information

Publications21

  1. Okamura K, Abe Y, Araki Y, Wakamatsu K, Seishima M, Umetsu T, et al. Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9. Pigment Cell Melanoma Res. 2017;: pubmed publisher
    ..In this study, we identified one patient each with HPS4, HPS6, and HPS9 by whole-exome sequencing...
  2. Zhang Q, Zhao B, Li W, Oiso N, Novak E, Rusiniak M, et al. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet. 2003;33:145-53 pubmed
    ..Both genes are previously unknown and are found only in higher eukaryotes, and together represent a new class of genes that have evolved in higher organisms to govern the synthesis of highly specialized lysosome-related organelles...
  3. Wei A, Yuan Y, Bai D, Ma J, Hao Z, Zhang Y, et al. NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. Pigment Cell Melanoma Res. 2016;29:702-706 pubmed publisher
    ..Among these mutations, 14 were previously unreported alleles (four in HPS1, three in HPS3, two in HPS5, five in HPS6). Our results demonstrate the feasibility and utility of NGS-based panel diagnostics for HPS...
  4. Miyamichi D, Asahina M, Nakajima J, Sato M, Hosono K, Nomura T, et al. Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. J Hum Genet. 2016;61:839-42 pubmed publisher
    ..We report suspected ocular albinism in two Japanese sisters, caused by mutations in the HPS6 (Hermansky-Pudlak syndrome 6) gene...
  5. Li K, Yang L, Zhang C, Niu Y, Li W, Liu J. HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes. J Cell Sci. 2014;127:4574-88 pubmed publisher
    Hermansky-Pudlak syndrome 6 protein (HPS6) has originally been identified as a subunit of the BLOC-2 protein complex that is involved in the biogenesis of lysosome-related organelles...
  6. O Brien K, Lozier J, Cullinane A, Osorio B, Nghiem K, Speransky V, et al. Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. Mol Genet Metab. 2016;119:284-287 pubmed publisher
    ..We report a novel mutation in HPS6 in a Caucasian man with hemophilia B and oculocutaneous albinism...
  7. Andres O, Wiegering V, K├Ânig E, Schneider A, Semeniak D, Stritt S, et al. A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome. Pediatr Blood Cancer. 2017;64: pubmed publisher
    ..We report on a novel HPS6 homozygous frameshift variant (c.1919_1920delTC; p...
  8. Di Pietro S, Falcon Perez J, Dell Angelica E. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Traffic. 2004;5:276-83 pubmed
    ..Most HPS genes, including HPS3, HPS5 and HPS6, encode ubiquitously expressed novel proteins of unknown function...
  9. Hull S, Arno G, Holder G, Plagnol V, Gomez K, Liesner R, et al. The ophthalmic presentation of Hermansky-Pudlak syndrome 6. Br J Ophthalmol. 2016;100:1521-1524 pubmed publisher
    ..Consideration of HPS as a differential diagnosis is important due to its potential systemic complications. HPS6 is a rarely reported subtype...
  10. Marti A, Lasseaux E, Ezzedine K, Leaute Labreze C, Boralevi F, Paya C, et al. Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting. Pigment Cell Melanoma Res. 2017;: pubmed publisher
    ..7%), TYRP1 (1/64, 1.6%), SLC45A2 (12/64, 18.7%), C10orf11 (1/64, 1.6%), HPS1 (3/64, 4.7%), HPS5 (1/64, 1.5%), HPS6 (1/64, 1.6%) and GPR143 (2/64, 3.1%). Causative mutations remained undetermined for one patient (1.6%)...
  11. Bultema J, Ambrosio A, Burek C, Di Pietro S. BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles. J Biol Chem. 2012;287:19550-63 pubmed publisher
    ..Additionally, analysis of tyrosinase-related protein-2 and total melanin production indicates that Rab32 has unique functions that cannot be carried out by Rab38 in melanosome biogenesis. ..