Genomes and Genes
Gene Symbol: Hps6
Description: HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
Alias: 5330434M19Rik, BLOC2, Hermansky-Pudlak syndrome 6 protein homolog, ruby eye, ruby-eye protein
- Salazar G, Zlatic S, Craige B, Peden A, Pohl J, Faundez V. Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells. J Biol Chem. 2009;284:1790-802 pubmed publisher..These results suggest that AP-3 and BLOC-1 act, either in concert or sequentially, to specify sorting of PI4KIIalpha along the endocytic route...
- Blasius A, Arnold C, Georgel P, Rutschmann S, Xia Y, Lin P, et al. Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells. Proc Natl Acad Sci U S A. 2010;107:19973-8 pubmed publisher..These proteins are not necessary for TLR7 or TLR9 signaling in conventional DCs and thus comprise a membrane trafficking pathway uniquely required for endosomal TLR signaling in pDCs. ..
- Sweet H, Bronson R. Osteochondrodystrophy (ocd): a new autosomal recessive mutation in the mouse. J Hered. 1991;82:140-4 pubmed..Osteochondrodystrophy has been mapped to a position near the centromere of mouse chromosome (Chr) 19. ..
- Moore K, Swing D, Copeland N, Jenkins N. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations. Genetics. 1990;125:421-30 pubmed..Unexpectedly, dsu suppressed the ruby eye color of ruby-eye (ru) and ruby-eye-2 (ru-2) mice, to black...
- Moyer F. Genetic variations in the fine structure and ontogeny of mouse melanin granules. Am Zool. 1966;6:43-66 pubmed
- McGarry M, Reddington M, Novak E, Swank R. Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. Proc Soc Exp Biol Med. 1999;220:162-8 pubmed..The mutants differed widely in both longevity and lung architecture. Mice doubly homozygous for the pale ear and ruby eye or for the muted and pearl genes had the shortest life spans with none surviving the two-year experimental ..
- Danciger M, Kozak C, Adamson M, Farber D. Chromosomal localization of the murine genes for the alpha- and beta-subunits of calcium/calmodulin-dependent protein kinase II. Mamm Genome. 1992;3:122-5 pubmed
- Wright A, Kawakami Y, Pavan W. Mart1 is located on mouse chromosome 19 and is excluded as a candidate for ep and ru. Mamm Genome. 1997;8:377-8 pubmed
- Chan W, Sherer N, Uchil P, Novak E, Swank R, Mothes W. Murine leukemia virus spreading in mice impaired in the biogenesis of secretory lysosomes and Ca2+-regulated exocytosis. PLoS ONE. 2008;3:e2713 pubmed publisher..Retroviruses have been observed to bud intracellularly into multivesicular bodies (MVB), in addition to the plasma membrane. Release from MVB is thought to occur by Ca(2+)-regulated fusion with the plasma membrane...
- 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...
- Keller S, Jones J, Boyle A, Barrow L, Killen P, Green D, et al. Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus. Genomics. 1994;23:309-20 pubmed..This deletion, Del(19)TgN8052Mm, will be useful for genetic and functional studies of this region of mouse Chromosome 19. ..
- Moore K, Swing D, Copeland N, Jenkins N. The murine dilute suppressor gene encodes a cell autonomous suppressor. Genetics. 1994;138:491-7 pubmed..In addition, we have further refined the map location of dsu in order to examine a number of possible dsu candidate genes mapping in the region and to provide a genetic basis for the positional cloning of dsu. ..
- O Brien E, Novak E, Keller S, Poirier C, Guenet J, Swank R. Molecular map of chromosome 19 including three genes affecting bleeding time: ep, ru, and bm. Mamm Genome. 1994;5:356-60 pubmedThe mouse ruby eye (ru) and pale ear (ep) pigment dilution genes cause platelet storage pool deficiency (SPD) and prolonged bleeding times...
- Marks S, Seifert M, Lane P. Osteosclerosis, a recessive skeletal mutation on chromosome 19 in the mouse. J Hered. 1985;76:171-6 pubmed..Extensive extramedullary hemopoiesis occurs in the liver and spleen of mutants. This unique constellation of features suggests that the oc mutation is a valuable model in which to investigate the pathogenesis of osteopetrosis. ..
- Novak E, Hui S, Swank R. Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood. 1984;63:536-44 pubmed..Also, the results emphasize the genetic, morphological, and functional interrelatedness of three organelles: melanosomes, lysosomes, and platelet dense granules. ..
- Rachel R, Nagashima K, O Sullivan T, Frost L, Stefano F, Marigo V, et al. Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis. PLoS ONE. 2012;7:e42446 pubmed publisher..Furthermore these studies provide the foundation for therapeutic approaches to correct the pigment defects in the RPE of HPS and OA1. ..
- Markert C, Silvers W. The Effects of Genotype and Cell Environment on Melanoblast Differentiation in the House Mouse. Genetics. 1956;41:429-50 pubmed
- Clark E, Shultz L, Pollack S. Mutations in mice that influence natural killer (NK) cell activity. Immunogenetics. 1981;12:601-13 pubmed..Unlike the obese gene, other mutations leading to obesity, diabetes (db) and yellow (Ay), did not impair NK-cell function. The possible site of gene action of these mutations in the NK-cell pathway is discussed. ..
- Pierro L, Chase H. Slate--a new coat color mutant in the mouse. J Hered. 1963;54:47-50 pubmed
- Graham G, Ren Q, Dilks J, Blair P, Whiteheart S, Flaumenhaft R. Endobrevin/VAMP-8-dependent dense granule release mediates thrombus formation in vivo. Blood. 2009;114:1083-90 pubmed publisher..These results demonstrate the importance of dense granule release even in the earliest phases of thrombus formation and validate the distal platelet secretory machinery as a potential target for antiplatelet therapies. ..
- Lane P, Green E. Pale ear and light ear in the house mouse. Mimic mutations in linkage groups XII and XVII. J Hered. 1967;58:17-20 pubmed
- Itakura K, Hutton J, Boyse E, Old L. Linkage groups of the theta and Ly-A loci. Nat New Biol. 1971;230:126 pubmed
- 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 publisherHermansky-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...
- Mayerhofer A, Russell L, Grothe C, Rudolf M, Gratzl M. Presence and localization of a 30-kDa basic fibroblast growth factor-like protein in rodent testes. Endocrinology. 1991;129:921-4 pubmed..Sertoli cells were unstained. We propose that the pluripotential growth factor bFGF could be involved in the regulation of germ cell proliferation and differentiation in the adult and immature testis. ..
- Dunn L. A New Eye Color Mutant in the Mouse with Asymmetrical Expression. Proc Natl Acad Sci U S A. 1945;31:343-6 pubmed
- McGarry M, Novak E, Swank R. Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency. Exp Hematol. 1986;14:261-5 pubmed..These findings suggest that in severe cases human SPD may be amenable to treatment by bone marrow transplantation. ..
- Novak E, Wieland F, Jahreis G, Swank R. Altered secretion of kidney lysosomal enzymes in the mouse pigment mutants ruby-eye, ruby-eye-2-J, and maroon. Biochem Genet. 1980;18:549-61 pubmed..Eight mouse pigment mutants are not known which affect both melanosome and lysosome function. They should serve as useful models for the study of the biogenesis, structure, and processing of these and other subcellular organelles. ..
- Kyriakis J, App H, Zhang X, Banerjee P, Brautigan D, Rapp U, et al. Raf-1 activates MAP kinase-kinase. Nature. 1992;358:417-21 pubmed..These results indicate that c-Raf-1 is an immediate upstream activator of MAPK-K in vivo. To our knowledge, MAPK-K is the first physiological substrate of the c-raf-1 protooncogene product to be identified. ..
- Hoyle D, Rodriguez Fernandez I, Dell Angelica E. Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation. Pigment Cell Melanoma Res. 2011;24:275-81 pubmed publisher..These observations suggest functional links between OCA2 and these three protein complexes involved in melanosome biogenesis. ..
- 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...
- Eicher E, Washburn L. Assignment of genes to regions of mouse chromosomes. Proc Natl Acad Sci U S A. 1978;75:946-50 pubmed
- Xie Y, Tan E, Wee S, Manser E, Lim L, Koh C. Functional interactions between phosphatase POPX2 and mDia modulate RhoA pathways. J Cell Sci. 2008;121:514-21 pubmed publisher..We propose that the interaction between mDia1 and POPX2 (PPM1F) serves to regulate both the actin cytoskeleton and SRF-mediated transcription, and to link the CDC42/RAC1 pathways with those of RhoA...
- Paigen B, Holmes P, Novak E, Swank R. Analysis of atherosclerosis susceptibility in mice with genetic defects in platelet function. Arteriosclerosis. 1990;10:648-52 pubmed..mutants with increased bleeding times and abnormal dense granules were used: maroon (ru-2mr), light ear (le), ruby eye (ru), beige (bg1), and pale ear (ep)...
- Center E, Hunter R, Dodge A. Effects of the luxoid gene (lu) on liver esterase isozymes of the mouse. Genetics. 1967;55:349-58 pubmed
- 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...
- Timms G, Holmes R. Genetics of aldehyde dehydrogenase isozymes in the mouse: evidence for multiple loci and localization of Ahd-2 on chromosome 19. Genetics. 1981;97:327-36 pubmed..Electrophoretic evidence for a third AHD isozyme (designated AHD-Cy), which is predominantly localized in the liver microsomal fraction, is also presented. ..
- Lane P, Eicher E, Southard J. Chromosome 19 of the house mouse. J Hered. 1974;65:297-300 pubmed
- Wei A, Zang D, Zhang Z, Liu X, He X, Yang L, et al. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. J Invest Dermatol. 2013;133:1834-40 pubmed publisher..Our results suggest that SLC24A5 is a previously unreported nonsyndromic OCA candidate gene and that the SLC24A5 transporter is transported into mature melanosomes by HPS protein complexes. ..
- Dennis M, Mantegazza A, Snir O, Tenza D, Acosta Ruiz A, Delevoye C, et al. BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery. J Cell Biol. 2015;209:563-77 pubmed publisher..These results support a model in which BLOC-2 functions to direct recycling endosomal tubular transport intermediates to maturing melanosomes and thereby promote cargo delivery and optimal pigmentation. ..