Rab27a

Summary

Gene Symbol: Rab27a
Description: RAB27A, member RAS oncogene family
Alias: 2210402C08Rik, 2410003M20Rik, 4933437C11Rik, ash, ras-related protein Rab-27A, ashen
Species: mouse
Products:     Rab27a

Top Publications

  1. Jancic C, Savina A, Wasmeier C, Tolmachova T, El Benna J, Dang P, et al. Rab27a regulates phagosomal pH and NADPH oxidase recruitment to dendritic cell phagosomes. Nat Cell Biol. 2007;9:367-78 pubmed
    ..Here, we show that dendritic cells derived from Rab27a-deficient ashen mice show increased phagosome acidification and antigen degradation, causing a defect in antigen ..
  2. Pachlopnik Schmid J, Ho C, Diana J, Pivert G, Lehuen A, Geissmann F, et al. A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). Eur J Immunol. 2008;38:3219-25 pubmed publisher
    Griscelli syndrome type 2 is caused by mutations in the RAB27A gene and is a rare and potentially fatal immune disorder associated with hemophagocytic lymphohistiocytosis (HLH)...
  3. Kimura T, Taniguchi S, Niki I. Actin assembly controlled by GDP-Rab27a is essential for endocytosis of the insulin secretory membrane. Arch Biochem Biophys. 2010;496:33-7 pubmed publisher
    We have recently reported that GDP-bound Rab27a regulates endocytosis of the insulin secretory membrane via its binding to coronin 3, an actin-binding protein...
  4. Singh R, Mizuno K, Wasmeier C, Wavre Shapton S, Recchi C, Catz S, et al. Distinct and opposing roles for Rab27a/Mlph/MyoVa and Rab27b/Munc13-4 in mast cell secretion. FEBS J. 2013;280:892-903 pubmed publisher
    ..bone marrow-derived mast cells (BMMC) from Rab27-deficient mutant mice, we found that, in contrast to Rab27b, Rab27a primarily plays an inhibitory role in regulating degranulation...
  5. Singh R, Liao W, Tracey White D, Recchi C, Tolmachova T, Rankin S, et al. Rab27a-mediated protease release regulates neutrophil recruitment by allowing uropod detachment. J Cell Sci. 2012;125:1652-6 pubmed publisher
    ..Here, we report that this process is regulated by the Rab27a GTPase, a protein known to control granule exocytosis...
  6. Johnson J, Hong H, Monfregola J, Catz S. Increased survival and reduced neutrophil infiltration of the liver in Rab27a- but not Munc13-4-deficient mice in lipopolysaccharide-induced systemic inflammation. Infect Immun. 2011;79:3607-18 pubmed publisher
    Genetic defects in the Rab27a or Munc13-4 gene lead to immunodeficiencies in humans, characterized by frequent viral and bacterial infections...
  7. Barral D, Ramalho J, Anders R, Hume A, Knapton H, Tolmachova T, et al. Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome. J Clin Invest. 2002;110:247-57 pubmed
    ..This disease is caused by loss-of-function mutations in RAB27A, which encodes 1 of the 60 known Rab GTPases, critical regulators of vesicular transport...
  8. Munafo D, Johnson J, Ellis B, Rutschmann S, Beutler B, Catz S. Rab27a is a key component of the secretory machinery of azurophilic granules in granulocytes. Biochem J. 2007;402:229-39 pubmed
    ..The secretory machinery utilized by neutrophils is poorly characterized. We show that the small GTPase Rab27a is an essential component of the secretory machinery of azurophilic granules in granulocytes...
  9. Kukimoto Niino M, Sakamoto A, Kanno E, Hanawa Suetsugu K, Terada T, Shirouzu M, et al. Structural basis for the exclusive specificity of Slac2-a/melanophilin for the Rab27 GTPases. Structure. 2008;16:1478-90 pubmed publisher
    b>Rab27A is required for actin-based melanosome transport in mammalian skin melanocytes through its interaction with a specific effector, Slac2-a/melanophilin...

More Information

Publications79

  1. Fukuda M. Synaptotagmin-like protein (Slp) homology domain 1 of Slac2-a/melanophilin is a critical determinant of GTP-dependent specific binding to Rab27A. J Biol Chem. 2002;277:40118-24 pubmed
    ..protein (Slp) homology domain (SHD) of the Slp and Slac2 families has recently been identified as a specific Rab27A-binding domain (Kuroda, T. S., Fukuda, M., Ariga, H., and Mikoshiba, K. (2002) J. Biol. Chem...
  2. Yi Z, Yokota H, Torii S, Aoki T, Hosaka M, Zhao S, et al. The Rab27a/granuphilin complex regulates the exocytosis of insulin-containing dense-core granules. Mol Cell Biol. 2002;22:1858-67 pubmed
    ..by a yeast two-hybrid system revealed that an amino-terminal zinc-finger domain of granuphilin interacts with Rab27a. Granuphilin preferentially bound to the GTP form of Rab27a...
  3. Chavas L, Ihara K, Kawasaki M, Torii S, Uejima T, Kato R, et al. Elucidation of Rab27 recruitment by its effectors: structure of Rab27a bound to Exophilin4/Slp2-a. Structure. 2008;16:1468-77 pubmed publisher
    ..b>Rab27a regulates numerous exocytotic pathways, and its dysfunction causes the Griscelli syndrome human immunodeficiency...
  4. Stinchcombe J, Barral D, Mules E, Booth S, Hume A, Machesky L, et al. Rab27a is required for regulated secretion in cytotoxic T lymphocytes. J Cell Biol. 2001;152:825-34 pubmed
    b>Rab27a activity is affected in several mouse models of human disease including Griscelli (ashen mice) and Hermansky-Pudlak (gunmetal mice) syndromes...
  5. Hume A, Collinson L, Hopkins C, Strom M, Barral D, Bossi G, et al. The leaden gene product is required with Rab27a to recruit myosin Va to melanosomes in melanocytes. Traffic. 2002;3:193-202 pubmed
    ..Griscelli syndrome results from loss of function mutations in either the RAB27A (type 1 Griscelli syndrome) or MYO5A (type 2 Griscelli syndrome) genes...
  6. Wu X, Rao K, Zhang H, Wang F, Sellers J, Matesic L, et al. Identification of an organelle receptor for myosin-Va. Nat Cell Biol. 2002;4:271-8 pubmed
    ..motor, binds to one of its cargoes, the melanosome, by interacting with a receptor-protein complex containing Rab27a and melanophilin, a postulated Rab27a effector...
  7. Kuroda T, Fukuda M. Rab27A-binding protein Slp2-a is required for peripheral melanosome distribution and elongated cell shape in melanocytes. Nat Cell Biol. 2004;6:1195-203 pubmed
    The synaptotagmin-like protein (Slp) family is implicated in regulating Rab27A-mediated membrane transport, but how it might do this is unknown...
  8. Kasai K, Ohara Imaizumi M, Takahashi N, Mizutani S, Zhao S, Kikuta T, et al. Rab27a mediates the tight docking of insulin granules onto the plasma membrane during glucose stimulation. J Clin Invest. 2005;115:388-96 pubmed
    The monomeric small GTPase Rab27a is specifically localized on both secretory granules and lysosome-related organelles...
  9. Strom M, Hume A, Tarafder A, Barkagianni E, Seabra M. A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport. J Biol Chem. 2002;277:25423-30 pubmed
    The Rab27a GTPase regulates diverse processes involving lysosome-related organelles, including melanosome motility in melanocytes, and lytic granule release in cytotoxic T lymphocytes...
  10. Johnson J, Brzezinska A, Tolmachova T, Munafo D, Ellis B, Seabra M, et al. Rab27a and Rab27b regulate neutrophil azurophilic granule exocytosis and NADPH oxidase activity by independent mechanisms. Traffic. 2010;11:533-47 pubmed publisher
    ..In vivo studies showed that the small GTPase Rab27a regulates azurophilic granule exocytosis...
  11. Hume A, Collinson L, Rapak A, Gomes A, Hopkins C, Seabra M. Rab27a regulates the peripheral distribution of melanosomes in melanocytes. J Cell Biol. 2001;152:795-808 pubmed
    Rab GTPases are regulators of intracellular membrane traffic. We report a possible function of Rab27a, a protein implicated in several diseases, including Griscelli syndrome, choroideremia, and the Hermansky-Pudlak syndrome mouse model, ..
  12. Gomi H, Mori K, Itohara S, Izumi T. Rab27b is expressed in a wide range of exocytic cells and involved in the delivery of secretory granules near the plasma membrane. Mol Biol Cell. 2007;18:4377-86 pubmed
    Rab proteins regulate multiple, complex processes of membrane traffic. Among these proteins, Rab27a has been shown to function specifically in regulated exocytic pathways...
  13. Figueiredo A, Wasmeier C, Tarafder A, Ramalho J, Baron R, Seabra M. Rab3GEP is the non-redundant guanine nucleotide exchange factor for Rab27a in melanocytes. J Biol Chem. 2008;283:23209-16 pubmed publisher
    ..b>Rab27a controls motility and regulated exocytosis of secretory granules and related organelles...
  14. Futter C, Ramalho J, Jaissle G, Seeliger M, Seabra M. The role of Rab27a in the regulation of melanosome distribution within retinal pigment epithelial cells. Mol Biol Cell. 2004;15:2264-75 pubmed
    ..distribution is due to the interaction with the cortical actin cytoskeleton mediated by a tripartite complex of Rab27a, melanophilin, and myosin Va...
  15. Tolmachova T, Abrink M, Futter C, Authi K, Seabra M. Rab27b regulates number and secretion of platelet dense granules. Proc Natl Acad Sci U S A. 2007;104:5872-7 pubmed
    The Rab27 GTPase subfamily consists of two closely related homologs, Rab27a and Rab27b. Rab27a has been shown previously to regulate organelle movement and regulated exocytosis in a wide variety of secretory cells...
  16. Hume A, Ushakov D, Tarafder A, Ferenczi M, Seabra M. Rab27a and MyoVa are the primary Mlph interactors regulating melanosome transport in melanocytes. J Cell Sci. 2007;120:3111-22 pubmed
    ..Melanophilin (Mlph) is a Rab27a- and myosin Va (MyoVa)-binding protein that regulates this process...
  17. Gibbs D, Azarian S, Lillo C, Kitamoto J, Klomp A, Steel K, et al. Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes. J Cell Sci. 2004;117:6473-83 pubmed
    ..in RPE cells that could potentially participate in melanosome transport, but of those tested, only myosin VIIa and Rab27a were found to be required for normal distribution...
  18. Holt O, Kanno E, Bossi G, Booth S, Daniele T, Santoro A, et al. Slp1 and Slp2-a localize to the plasma membrane of CTL and contribute to secretion from the immunological synapse. Traffic. 2008;9:446-57 pubmed publisher
    b>Rab27a is required for polarized secretion of lysosomes from cytotoxic T lymphocytes (CTLs) at the immunological synapse...
  19. Haddad E, Wu X, Hammer J, Henkart P. Defective granule exocytosis in Rab27a-deficient lymphocytes from Ashen mice. J Cell Biol. 2001;152:835-42 pubmed
    Because mutations in Rab27a have been linked to immune defects in humans, we have examined cytotoxic lymphocyte function in ashen mice, which contain a splicing mutation in Rab27a...
  20. Wilson S, Yip R, Swing D, O Sullivan T, Zhang Y, Novak E, et al. A mutation in Rab27a causes the vesicle transport defects observed in ashen mice. Proc Natl Acad Sci U S A. 2000;97:7933-8 pubmed
    ..Here, using positional cloning and bacterial artificial chromosome rescue, we show that ash encodes Rab27a. Rab GTPases represent the largest branch of the p21 Ras superfamily and are recognized as key players in ..
  21. Tolmachova T, Anders R, Stinchcombe J, Bossi G, Griffiths G, Huxley C, et al. A general role for Rab27a in secretory cells. Mol Biol Cell. 2004;15:332-44 pubmed
    ..We constructed a PAC-based transgenic mouse, which expresses EGFP-Rab27a under the control of endogenous Rab27a promoter...
  22. Wu X, Rao K, Bowers M, Copeland N, Jenkins N, Hammer J. Rab27a enables myosin Va-dependent melanosome capture by recruiting the myosin to the organelle. J Cell Sci. 2001;114:1091-100 pubmed
    ..Genetic evidence suggests that Rab27a, the product of the ashen locus, functions with myosin Va in this process...
  23. Moore K, Swing D, Rinchik E, Mucenski M, Buchberg A, Copeland N, et al. The murine dilute suppressor gene dsu suppresses the coat-color phenotype of three pigment mutations that alter melanocyte morphology, d, ash and ln. Genetics. 1988;119:933-41 pubmed
    ..In addition to d, two other loci, ashen (ash) and leaden (ln), have been identified that produce a diluted coat color associated with adendritic ..
  24. Meng Z, Edman M, Hsueh P, Chen C, Klinngam W, Tolmachova T, et al. Imbalanced Rab3D versus Rab27 increases cathepsin S secretion from lacrimal acini in a mouse model of Sjögren's Syndrome. Am J Physiol Cell Physiol. 2016;310:C942-54 pubmed publisher
    ..Here, we investigated the role of Rab3D, Rab27a, and Rab27b proteins in the enhanced release of CTSS from LGAC...
  25. Kim S, Lee J, Merrins M, Gavrilova O, Bisteau X, Kaldis P, et al. Loss of Cyclin-dependent Kinase 2 in the Pancreas Links Primary ?-Cell Dysfunction to Progressive Depletion of ?-Cell Mass and Diabetes. J Biol Chem. 2017;292:3841-3853 pubmed publisher
    ..Thus, CDK2 serves as an important nexus linking primary ?-cell dysfunction to progressive ?-cell mass deterioration in diabetes. ..
  26. Higashio H, Nishimura N, Ishizaki H, Miyoshi J, Orita S, Sakane A, et al. Doc2 alpha and Munc13-4 regulate Ca(2+) -dependent secretory lysosome exocytosis in mast cells. J Immunol. 2008;180:4774-84 pubmed
    ..These results suggest that the Doc2alpha-Muunc13-4 system regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells. ..
  27. Reichhart N, Markowski M, Ishiyama S, Wagner A, Crespo Garcia S, Schorb T, et al. Rab27a GTPase modulates L-type Ca2+ channel function via interaction with the II-III linker of CaV1.3 subunit. Cell Signal. 2015;27:2231-40 pubmed publisher
    In a variety of cells, secretory processes require the activation of both Rab27a and L-type channels of the Ca(V)1.3 subtype. In the retinal pigment epithelium (RPE), Rab27a and Ca(V)1...
  28. 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...
  29. Langdon W, Theodore T, Buckler C, Stimpfling J, Martin M, Morse H. Relationship between a retroviral germ line reintegration and a new mutation at the ashen locus in B10.F mice. Retroviral integration and an ashen mutation. Virology. 1984;133:183-90 pubmed
    ..The coat-color mutation was found to be allelic to the ashen locus which is closely linked to the dilute locus on chromosome 9...
  30. Kurz A, Pruenster M, Rohwedder I, Ramadass M, Schäfer K, Harrison U, et al. MST1-dependent vesicle trafficking regulates neutrophil transmigration through the vascular basement membrane. J Clin Invest. 2016;126:4125-4139 pubmed publisher
    ..Together, these findings highlight a role for MST1 in vesicle trafficking and extravasation in neutrophils, providing an additional mechanistic explanation for the severe immune defect observed in patients with MST1 deficiency. ..
  31. Johnson J, Hong H, Monfregola J, Kiosses W, Catz S. Munc13-4 restricts motility of Rab27a-expressing vesicles to facilitate lipopolysaccharide-induced priming of exocytosis in neutrophils. J Biol Chem. 2011;286:5647-56 pubmed publisher
    ..The small GTPase Rab27a and its effector Munc13-4 regulate exocytosis in hematopoietic cells...
  32. Yasuda T, Fukuda M. Slp2-a controls renal epithelial cell size through regulation of Rap-ezrin signaling independently of Rab27. J Cell Sci. 2014;127:557-70 pubmed publisher
    ..Our findings indicate that Slp2-a controls renal cell size through regulation of Rap-ezrin signaling independently of Rab27...
  33. Ishida M, Arai S, Ohbayashi N, Fukuda M. The GTPase-deficient Rab27A(Q78L) mutant inhibits melanosome transport in melanocytes through trapping of Rab27A effector protein Slac2-a/melanophilin in their cytosol: development of a novel melanosome-targetinG tag. J Biol Chem. 2014;289:11059-67 pubmed publisher
    The small GTPase Rab27A is a crucial regulator of actin-based melanosome transport in melanocytes, and functionally defective Rab27A causes human Griscelli syndrome type 2, which is characterized by silvery hair...
  34. 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. ..
  35. Merrins M, Stuenkel E. Kinetics of Rab27a-dependent actions on vesicle docking and priming in pancreatic beta-cells. J Physiol. 2008;586:5367-81 pubmed publisher
    The small GTPase Rab27a, along with the isoforms of Rab3, is present on insulin secretory granules and has been implicated in regulation of Ca(2+)-triggered exocytosis...
  36. Fukuda M, Kanno E, Yamamoto A. Rabphilin and Noc2 are recruited to dense-core vesicles through specific interaction with Rab27A in PC12 cells. J Biol Chem. 2004;279:13065-75 pubmed
    ..in the regulation of secretory vesicle exocytosis, however, recently both proteins have been shown to bind Rab27A in vitro in preference to Rab3A (Fukuda, M. (2003) J. Biol. Chem...
  37. Yamaoka M, Ando T, Terabayashi T, Okamoto M, Takei M, Nishioka T, et al. PI3K regulates endocytosis after insulin secretion by mediating signaling crosstalk between Arf6 and Rab27a. J Cell Sci. 2016;129:637-49 pubmed publisher
    ..Here, we searched for proteins that interacted with the Rab27a GTPase-activating protein (GAP) EPI64 (also known as TBC1D10A) and identified the Arf6 guanine-nucleotide-exchange ..
  38. El Amraoui A, Schonn J, Küssel Andermann P, Blanchard S, Desnos C, Henry J, et al. MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes. EMBO Rep. 2002;3:463-70 pubmed
    ..protein that we have named MyRIP (myosin-VIIa- and Rab-interacting protein), since it also binds to Rab27A in a GTP-dependent manner...
  39. Johnson J, Ramadass M, He J, Brown S, Zhang J, Abgaryan L, et al. Identification of Neutrophil Exocytosis Inhibitors (Nexinhibs), Small Molecule Inhibitors of Neutrophil Exocytosis and Inflammation: DRUGGABILITY OF THE SMALL GTPase Rab27a. J Biol Chem. 2016;291:25965-25982 pubmed
    ..screening approach to identify small molecule inhibitors of the interaction between the small GTPase Rab27a and its effector JFC1, two central regulators of neutrophil exocytosis...
  40. Kariya Y, Honma M, Hanamura A, Aoki S, Ninomiya T, Nakamichi Y, et al. Rab27a and Rab27b are involved in stimulation-dependent RANKL release from secretory lysosomes in osteoblastic cells. J Bone Miner Res. 2011;26:689-703 pubmed publisher
    ..In this study we show that small GTPases Rab27a and Rab27b are involved in the stimulation-dependent RANKL release pathway in osteoblastic cells...
  41. Koguchi Y, Gardell J, Thauland T, Parker D. Cyclosporine-resistant, Rab27a-independent mobilization of intracellular preformed CD40 ligand mediates antigen-specific T cell help in vitro. J Immunol. 2011;187:626-34 pubmed publisher
    ..selective activation of cognate but not bystander APCs in vitro and that mobilization of pCD40L does not depend on Rab27a, which is required for mobilization of lytic granules...
  42. Andrews T, Whittle B, Field M, Balakishnan B, Zhang Y, Shao Y, et al. Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models. Open Biol. 2012;2:120061 pubmed publisher
    ..This approach transforms genetic screens in mice, establishes a general strategy for analysing rare DNA variants and opens up a large new source for experimental models of human disease. ..
  43. Wang H, Cui Q, Zhang T, Wang Z, Ouyang Y, Shen W, et al. Rab3A, Rab27A, and Rab35 regulate different events during mouse oocyte meiotic maturation and activation. Histochem Cell Biol. 2016;145:647-57 pubmed publisher
    ..In this study, we investigated the distribution and functions of three members of the Rab family, Rab3A, Rab27A, and Rab35, in mouse oocyte meiotic maturation and activation...
  44. Kuroda T, Fukuda M. Functional analysis of Slac2-c/MyRIP as a linker protein between melanosomes and myosin VIIa. J Biol Chem. 2005;280:28015-22 pubmed
    Slac2-c/MyRIP, an in vitro Rab27A- and myosin Va/VIIa-binding protein, has recently been proposed to regulate retinal melanosome transport in retinal pigment epithelium cells by directly linking melanosome-bound Rab27A and myosin VIIa; ..
  45. Shimada Sugawara M, Sakai E, Okamoto K, Fukuda M, Izumi T, Yoshida N, et al. Rab27A regulates transport of cell surface receptors modulating multinucleation and lysosome-related organelles in osteoclasts. Sci Rep. 2015;5:9620 pubmed publisher
    b>Rab27A regulates transport of lysosome-related organelles (LROs) and release of secretory granules in various types of cells...
  46. Ohbayashi N, Maruta Y, Ishida M, Fukuda M. Melanoregulin regulates retrograde melanosome transport through interaction with the RILP-p150Glued complex in melanocytes. J Cell Sci. 2012;125:1508-18 pubmed publisher
    ..Mreg deficiency was found to restore peripheral melanosome distribution from perinuclear melanosome aggregation in Rab27A-deficient melanocytes. However, the function of Mreg in melanosome transport has remained unclear...
  47. Matsunaga K, Taoka M, Isobe T, Izumi T. Rab2a and Rab27a cooperatively regulate the transition from granule maturation to exocytosis through the dual effector Noc2. J Cell Sci. 2017;130:541-550 pubmed publisher
    ..b>Rab27a regulates the late steps in this process, such as granule recruitment to the fusion site, whereas Rab2a functions ..
  48. Kimura T, Taniguchi S, Toya K, Niki I. Glucose-induced translocation of coronin 3 regulates the retrograde transport of the secretory membrane in the pancreatic beta-cells. Biochem Biophys Res Commun. 2010;395:318-23 pubmed publisher
    GTP-Rab27a is known to regulate insulin exocytosis. We have recently reported that coronin 3, which paradoxically binds GDP-Rab27a, participates in endocytosis of the insulin secretory membrane...
  49. Kierszenbaum A, Tres L, Rivkin E, Kang Decker N, van Deursen J. The acroplaxome is the docking site of Golgi-derived myosin Va/Rab27a/b- containing proacrosomal vesicles in wild-type and Hrb mutant mouse spermatids. Biol Reprod. 2004;70:1400-10 pubmed
    ..We also show that the actin-based motor protein myosin Va and its receptor, Rab27a/b, known to be involved in vesicle transport, are present in the Golgi and Golgi-derived proacrosomal vesicles in ..
  50. Ramalho J, Tolmachova T, Hume A, McGuigan A, Gregory Evans C, Huxley C, et al. Chromosomal mapping, gene structure and characterization of the human and murine RAB27B gene. BMC Genet. 2001;2:2 pubmed
    Rab GTPases are regulators of intracellular membrane traffic. The Rab27 subfamily consists of Rab27a and Rab27b. Rab27a has been recently implicated in Griscelli Disease, a disease combining partial albinism with severe immunodeficiency...
  51. Novak E, Gautam R, Reddington M, Collinson L, Copeland N, Jenkins N, et al. The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background. Blood. 2002;100:128-35 pubmed
    ..prolonged bleeding times, and platelet storage pool deficiency due to a mutation which abrogates expression of the Rab27a protein...
  52. Wavre Shapton S, Tolmachova T, Lopes da Silva M, da Silva M, Futter C, Seabra M. Conditional ablation of the choroideremia gene causes age-related changes in mouse retinal pigment epithelium. PLoS ONE. 2013;8:e57769 pubmed publisher
    ..Furthermore, the striking similarities between the present observations and some of the phenotypes reported in age-related macular degeneration (AMD) suggest that membrane traffic defects may contribute to the pathogenesis of AMD. ..
  53. Bolasco G, Tracey White D, Tolmachova T, Thorley A, Tetley T, Seabra M, et al. Loss of Rab27 function results in abnormal lung epithelium structure in mice. Am J Physiol Cell Physiol. 2011;300:C466-76 pubmed publisher
    ..Previous studies indicated that Rab27a and Rab27b are expressed in the murine lung suggesting that they regulate secretory processes in the lung...
  54. Chavas L, Ihara K, Kawasaki M, Kato R, Izumi T, Wakatsuki S. Purification, crystallization and preliminary X-ray crystallographic analysis of Rab27a GTPase in complex with exophilin4/Slp2-a effector. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2008;64:599-601 pubmed publisher
    ..Among Rab GTPases, the Rab27 subfamily, which comprises Rab27a and Rab27b, controls the proper targeting of secretory vesicles to the plasma membrane...
  55. Fukuda M, Kuroda T. Missense mutations in the globular tail of myosin-Va in dilute mice partially impair binding of Slac2-a/melanophilin. J Cell Sci. 2004;117:583-91 pubmed
    ..GT) of myosin-Va partially impair the binding of Slac2-a/melanophilin, a linker protein between myosin-Va and Rab27A on the melanosome...
  56. Kim J, Willetts L, Ochkur S, Srivastava N, Hamburg R, Shayeganpour A, et al. An essential role for Rab27a GTPase in eosinophil exocytosis. J Leukoc Biol. 2013;94:1265-74 pubmed publisher
    Eosinophil degranulation has been implicated in inflammatory processes associated with allergic asthma. Rab27a, a Rab-related GTPase, is a regulatory intracellular signaling molecule expressed in human eosinophils...
  57. Ramadass M, Johnson J, Catz S. Rab27a regulates GM-CSF-dependent priming of neutrophil exocytosis. J Leukoc Biol. 2017;101:693-702 pubmed publisher
    ..With the use of neutrophils deficient in the small GTPase Rab27a or its effector Munc13-4, we show that although both of these secretory factors control matrix metalloproteinase-9 ..
  58. Nguyen T, Wei M. Characterization of melanosomes in murine Hermansky-Pudlak syndrome: mechanisms of hypopigmentation. J Invest Dermatol. 2004;122:452-60 pubmed
    ..We demonstrate that all strains examined here except for ashen have defects in morphogenesis, the most severely affected is sandy, muted, and buff followed by subtle gray...
  59. Nadeau J. Modifier genes in mice and humans. Nat Rev Genet. 2001;2:165-74 pubmed
  60. Chen G, Zhang Z, Wei Z, Cheng Q, Li X, Li W, et al. Lysosomal exocytosis in Schwann cells contributes to axon remyelination. Glia. 2012;60:295-305 pubmed publisher
    ..Downregulation of Rab27a, a small GTPase required for the trafficking of the secretory lysosomes to the plasma membrane, largely blocked ..
  61. Tarafder A, Wasmeier C, Figueiredo A, Booth A, Orihara A, Ramalho J, et al. Rab27a targeting to melanosomes requires nucleotide exchange but not effector binding. Traffic. 2011;12:1056-66 pubmed publisher
    ..Here, we address these issues using Rab27a targeting to melanosomes as a model system...
  62. Kimura T, Kaneko Y, Yamada S, Ishihara H, Senda T, Iwamatsu A, et al. The GDP-dependent Rab27a effector coronin 3 controls endocytosis of secretory membrane in insulin-secreting cell lines. J Cell Sci. 2008;121:3092-8 pubmed publisher
    b>Rab27a is involved in the control of membrane traffic, a crucial step in the regulated secretion...
  63. Jessen B, Bode S, Ammann S, Chakravorty S, Davies G, Diestelhorst J, et al. The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood. 2013;121:2943-51 pubmed publisher
    ..Because that patient also carried a potentially contributing heterozygous RAB27A mutation, the risk for HLH in HPS2 remains unclear...
  64. Yasuda T, Saegusa C, Kamakura S, Sumimoto H, Fukuda M. Rab27 effector Slp2-a transports the apical signaling molecule podocalyxin to the apical surface of MDCK II cells and regulates claudin-2 expression. Mol Biol Cell. 2012;23:3229-39 pubmed publisher
    ..reveal that Slp2-a is required for targeting of the signaling molecule podocalyxin to the apical membrane in a Rab27A-dependent manner...
  65. Hou Y, Chen X, Tolmachova T, Ernst S, Williams J. EPI64B acts as a GTPase-activating protein for Rab27B in pancreatic acinar cells. J Biol Chem. 2013;288:19548-57 pubmed publisher
    ..Overexpression of EPI64B also enhanced amylase release. This enhanced release was independent of Rab27A, but dependent on Rab27B, as shown using acini from genetically modified mice...
  66. 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
    ..shown to suppress the dilute coat color phenotypes of mice homozygous for the dilute (d), leaden (ln), and ashen (ash) mutations...
  67. Singh R, Furze R, Birrell M, Rankin S, Hume A, Seabra M. A role for Rab27 in neutrophil chemotaxis and lung recruitment. BMC Cell Biol. 2014;15:39 pubmed publisher
    ..We have previously shown that Rab27a can promote neutrophil migration by facilitating uropod release through protease secretion from primary granule ..
  68. Hou Y, Ernst S, Lentz S, Williams J. Genetic deletion of Rab27B in pancreatic acinar cells affects granules size and has inhibitory effects on amylase secretion. Biochem Biophys Res Commun. 2016;471:610-5 pubmed publisher
    ..g. similar small G proteins, such as Rab3D and Rab27A, and putative downstream effectors...
  69. Fraile Ramos A, Cepeda V, Elstak E, van der Sluijs P. Rab27a is required for human cytomegalovirus assembly. PLoS ONE. 2010;5:e15318 pubmed publisher
    ..The mechanisms underlying these processes are not understood. Here we studied the role of Rab27a, a regulator of lysosome-related organelle transport, in HCMV production...
  70. Liu D, Meckel T, Long E. Distinct role of rab27a in granule movement at the plasma membrane and in the cytosol of NK cells. PLoS ONE. 2010;5:e12870 pubmed publisher
    ..Both mouse NK cells and a human NK cell line deficient in the small GTPase Rab27a were examined. The unbiased analysis of large datasets led to the following observations and conclusions...