Gene Symbol: Hps5
Description: HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
Alias: AI646796, AL022647, C85120, haze, maroon, ru-2, ru2, Hermansky-Pudlak syndrome 5 protein homolog, Hermansky-Pudlak syndrome 5 homolog, ruby eye 2, ruby-eye protein 2, truncated HPS5 protein
Species: mouse
Products:     Hps5

Top Publications

  1. 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
    ..candidate and transgenic rescue approaches to identify the genes mutated in ruby-eye 2 and ruby-eye mice (ru2 and ru, respectively), two 'mimic' mouse models of HPS...
  2. Nguyen T, Novak E, Kermani M, Fluhr J, Peters L, Swank R, et al. Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. J Invest Dermatol. 2002;119:1156-64 pubmed
    ..In contrast, the hypopigmentation seen in the gunmetal strain is due to the retention of melanosomes in melanocytes, and inefficient transfer into keratinocytes...
  3. 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
    ..Five genetically distinct 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)...
  4. 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
    ..were carried out between normal C57Bl/6J mice and five of these mutants, pearl, light ear, pale ear, ruby-eye, and maroon, to test whether the platelet defects are due to platelet progenitor cells or to humoral regulatory factors...
  5. 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
    ..Three mouse pigment mutants, ruby-eye, ruby-eye-2-J, and maroon, have abnormally high concentrations of kidney lysosomal enzymes...
  6. 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
    ..These studies have thus identified a second group of genes whose phenotypes are suppressed by dsu and have provided new insights into the mechanism of action of dsu. ..
  7. Hirobe T, Yoshihara C, Takeuchi S, Wakamatsu K, Ito S, Abe H, et al. A novel deletion mutation of mouse ruby-eye 2 named ru2(d)/Hps5(ru2-d) inhibits melanocyte differentiation and its impaired differentiation is rescued by L-tyrosine. Zoolog Sci. 2011;28:790-801 pubmed publisher
    ..a single autosomal recessive mutation in a phenotype similar to ruby-eye (ru/Hps6(ru)) or ruby-eye 2 (ru2/Hps5(ru2)) spontaneously occurred in siblings of C57BL/10JHir (+/+, black) mice in 2006...
  8. 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. ..
  9. Eppig J, Eicher E. Analysis of recombination in the centromere region of mouse chromosome 7 using ovarian teratoma and backcross methods. J Hered. 1988;79:425-9 pubmed
    ..No recombinants were detected among 410 offspring produced from a backcross mating segregating for Ldh-1 and ru-2 (ruby-eye-2). Thus, the gene order of Ldh-1 and ru-2 on chromosome 7 remains uncertain. ..

More Information


  1. Russell L, Montgomery C, Cacheiro N, Johnson D. Complementation analyses for 45 mutations encompassing the pink-eyed dilution (p) locus of the mouse. Genetics. 1995;141:1547-62 pubmed
    ..The alleles specifying mottling or darker pigment (generically, pm and px, respectively) probably do not represent deletions of p-coding sequences but could be small rearrangements involving proximal regulatory elements. ..
  2. Nadeau J. Modifier genes in mice and humans. Nat Rev Genet. 2001;2:165-74 pubmed
  3. 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. ..
  4. 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
    ..In the present study, five other mutants with defective lysosomal enzyme secretion--pearl, pallid, light ear, maroon, and ruby-eye--were likewise found to have abnormally prolonged bleeding times after experimental injury...
  5. 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. ..
  6. Eicher E. The Position of ru-2 and qv with Respect to the FLECKED Translocation in the Mouse. Genetics. 1970;64:495-510 pubmed
  7. 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...
  8. Hirobe T, Ito S, Wakamatsu K. The mouse ruby-eye 2(d) (ru2(d) /Hps5(ru2-d) ) allele inhibits eumelanin but not pheomelanin synthesis. Pigment Cell Melanoma Res. 2013;26:723-6 pubmed publisher
    The novel mutation named ru2(d) /Hps5(ru2-d) , characterized by light-colored coats and ruby-eyes, prohibits differentiation of melanocytes by inhibiting tyrosinase (Tyr) activity, expression of Tyr, Tyr-related protein 1 (Tyrp1), Tyrp2, ..
  9. Itoh Y, Nagaoka Y, Katakura Y, Kawahara H, Takemori H. Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation. Pigment Cell Melanoma Res. 2016;29:578-82 pubmed publisher
    ..HPS patients can develop granulomatous colitis, the simple induction of chronic colitis in spontaneously mutated Hps5-deficient mice may become an invaluable model for exploring treatment options in patients with HPS as well as other ..
  10. Brion J, Guilleminot J, Nunez J. Dendritic and axonal distribution of the microtubule-associated proteins MAP2 and tau in the cerebellum of the nervous mutant mouse. Brain Res Dev Brain Res. 1988;44:221-32 pubmed
    ..It remains unclear, however, whether such changes in expression of MAP2 represent a primary effect of the mutation or if it is only a precocious result of Purkinje cell degeneration. ..
  11. Hirobe T, Wakamatsu K, Ito S. A new mutation of mouse ruby-eye 2, ru2(d)/Hps5(ru2-d) inhibits eumelanin synthesis but stimulates pheomelanin synthesis in melanocytes. Zoolog Sci. 2012;29:652-61 pubmed publisher
    ..coats and ruby eyes, which occurred spontaneously in mice in our laboratory, exhibited deletion in the Hps5 gene (ru2(d)/Hps5(ru2-d))...