Strom M., Hume A.N., Tarafder A.K., Barkagianni E., Seabra M.C.

J. Biol. Chem. 277:25423-25430(2002) GeneRIF 5873 · Mapped (21)
role in melanosome transport GeneRIF 5873

Barral D.C., Ramalho J.S., Anders R., Hume A.N., Knapton H.J., Tolmachova T., Collinson L.M., Goulding D., Authi K.S., Seabra M.C.

J. Clin. Invest. 110:247-257(2002) GeneRIF 5873 · Mapped (10)
Rab27b is functionally redundant with Rab27a and the pathogenesis of Griscelli syndrome is determined by the relative expression of Rab27a and Rab27b in specialized cell types. GeneRIF 5873

Sanal O., Ersoy F., Tezcan I., Metin A., Yel L., Menasche G., Gurgey A., Berkel I., de Saint Basile G.

J. Clin. Immunol. 22:237-243(2002) GeneRIF 5873 · Mapped (13)
RAB27A mutations in Griscelli disease GeneRIF 5873

Fukuda M.

J. Biol. Chem. 277:40118-40124(2002) GeneRIF 5873 · Mapped (13)
recognition of the GTP-bound form of Rab27A requires the SHD1 of Slac2-a/melanophilin GeneRIF 5873

Shirakawa R., Higashi T., Tabuchi A., Yoshioka A., Nishioka H., Fukuda M., Kita T., Horiuchi H.

J. Biol. Chem. 279:10730-10737(2004) GeneRIF 5873 · Mapped (5)
Rab27 regulates the dense core granule secretion in platelets by employing its binding protein Munc13-4 GeneRIF 5873

Johnson J.L., Ellis B.A., Noack D., Seabra M.C., Catz S.D.

Biochem. J. 391:699-710(2005) GeneRIF 5873 · Mapped (12)
JFC1 differentially regulates the secretion of PSAP and PSA and Rab27a and PI3K play a central role in the exocytosis of prostate-specific markers. GeneRIF 5873

Zur Stadt U., Beutel K., Kolberg S., Schneppenheim R., Kabisch H., Janka G., Hennies H.C.

Hum. Mutat. 27:62-68(2006) GeneRIF 5873 · Mapped (8)
Extensive genetic and allelic heterogeneity in Familial hemophagocytic lymphohistiocytosis (FHL) and delineate an approach for functionally characterizing missense mutations in RAB27A and UNC13D. GeneRIF 5873

Saxena S.K., Horiuchi H., Fukuda M.

Biochem. Biophys. Res. Commun. 344:651-657(2006) GeneRIF 5873 · Mapped (12)
These observations decisively prove that Rab27a inhibits ENaC function through a complex mechanism that involves GTP/GDP status and protein-protein interactions involving Munc13-4 and SLP-5 effector proteins. GeneRIF 5873

Saxena S.K., Kaur S.

Biochem. Biophys. Res. Commun. 346:259-267(2006) GeneRIF 5873 · Mapped (3)
findings show that Rab27a is involved in CFTR channel regulation through protein-protein interactions involving Munc13-4 and SLP-5 effector proteins GeneRIF 5873

Kondo H., Shirakawa R., Higashi T., Kawato M., Fukuda M., Kita T., Horiuchi H.

J. Biol. Chem. 281:28657-28665(2006) GeneRIF 5873 · Mapped (3)
Rab27 is maintained in the active status in unstimulated platelets which could function to keep dense granules in a preparative status for secretion GeneRIF 5873

Itoh T., Fukuda M.

J. Biol. Chem. 281:31823-31831(2006) GeneRIF 5873 · UniProtKB (2) · Mapped (9)
EPI64 is a GTPase-activating protein specific for Rab27A GeneRIF 5873

Jordens I., Westbroek W., Marsman M., Rocha N., Mommaas M., Huizing M., Lambert J., Naeyaert J.M., Neefjes J.

Pigment Cell Res. 19:412-423(2006) GeneRIF 5873 · Mapped (7)
Rab7 controls microtubule-mediated transport of early and Rab27a the subsequent actin-dependent transport of mature melanosomes. GeneRIF 5873

Munafo D.B., Johnson J.L., Ellis B.A., Rutschmann S., Beutler B., Catz S.D.

Biochem. J. 402:229-239(2007) GeneRIF 5873 · Mapped (5)
Rab27a and JFC1/Slp1 permit myeloperoxidase release into the surrounding milieu and constitute key components of the secretory machinery of azurophilic granules in granulocytes GeneRIF 5873

Gazit R., Aker M., Elboim M., Achdout H., Katz G., Wolf D.G., Katzav S., Mandelboim O.

Blood 109:4306-4312(2007) GeneRIF 5873 · Mapped (3)
A novel homozygous mutation in the RAB27A gene of a new Griscelli syndrome patient. GeneRIF 5873

Klomp A.E., Teofilo K., Legacki E., Williams D.S.

Cell Motil. Cytoskeleton 64:474-487(2007) GeneRIF 5873 · Mapped (5)
The present results provide evidence from live retinal pigment epithelium cells that the RAB27A-MYRIP-MYO7A complex functions in melanosome motility. GeneRIF 5873

Chiaverini C., Beuret L., Flori E., Busca R., Abbe P., Bille K., Bahadoran P., Ortonne J.P., Bertolotto C., Ballotti R.

J. Biol. Chem. 283:12635-12642(2008) GeneRIF 5873 · Mapped (18)
These results show that RAB27A is a new direct transcriptional target of MITF and link MITF to melanosome transport another key parameter of melanocyte differentiation and skin pigmentation. GeneRIF 5873

Donn R., Ellison S., Lamb R., Day T., Baildam E., Ramanan A.V.

Arthritis Rheum. 58:869-874(2008) GeneRIF 5873 · Mapped (14)
Observational study of gene-disease association. (HuGE Navigator); The genes PRF1 GZMB UNC13D and Rab27a involved in hemophagocytic lymphohistiocytosis do not confer a significant risk of association with systemic-onset juvenile idiopathic arthritis. GeneRIF 5873

Wang J.S., Wang F.B., Zhang Q.G., Shen Z.Z., Shao Z.M.

Mol. Cancer Res. 6:372-382(2008) GeneRIF 5873 · Mapped (4)
Rab27A is associated with invasive and metastatic potentials of human breast cancer cells. GeneRIF 5873

Mamishi S., Modarressi M.H., Pourakbari B., Tamizifar B., Mahjoub F., Fahimzad A., Alyasin S., Bemanian M.H., Hamidiyeh A.A., Fazlollahi M.R. et al.

J. Clin. Immunol. 28:384-389(2008) GeneRIF 5873 · Mapped (3)
We present four novel mutations including a deletion hot spot in RAB27A gene in Griscelli syndrome type 2 GeneRIF 5873

Westbroek W., Tuchman M., Tinloy B., De Wever O., Vilboux T., Hertz J.M., Hasle H., Heilmann C., Helip-Wooley A., Kleta R. et al.

Mol. Genet. Metab. 94:248-254(2008) GeneRIF 5873 · Mapped (3)
Study reports a novel homozygous missense mutation of the RAB27A gene of an Afghani GSII patient; G43S mutation located in the highly conserved switch I region of Rab27A induces perinuclear localization of melanosomes in normal melanocytes. GeneRIF 5873

Masri A., Bakri F.G., Al-Hussaini M., Al-Hadidy A., Hirzallah R., de Saint Basile G., Hamamy H.

J. Child Neurol. 23:964-967(2008) GeneRIF 5873 · Mapped (3)
Mutation analysis in family members revealed the presence of a missense mutation in Rab27a gene. In addition to the rare presentation this is the first case of Griscelli syndrome to be reported from Jordan. GeneRIF 5873

Figueiredo A.C., Wasmeier C., Tarafder A.K., Ramalho J.S., Baron R.A., Seabra M.C.

J. Biol. Chem. 283:23209-23216(2008) GeneRIF 5873 · Mapped (10)
Rab3GEP has a role as the non-redundant guanine nucleotide exchange factor for Rab27a in melanocytes GeneRIF 5873

Herrero-Turrion M.J., Calafat J., Janssen H., Fukuda M., Mollinedo F.

J. Immunol. 181:3793-3803(2008) GeneRIF 5873 · Mapped (3)
Rab27a is a major component of the exocytic machinery of human neutrophils modulating the secretion of tertiary and specific granules that are readily mobilized upon neutrophil activation. GeneRIF 5873

Kesari A., Fukuda M., Knoblach S., Bashir R., Nader G.A., Rao D., Nagaraju K., Hoffman E.P.

Am. J. Pathol. 173:1476-1487(2008) GeneRIF 5873 · Mapped (12)
Rab27A/Slp2a expression in limb girdle muscular dystrophy 2B muscle provides a compensatory vesicular trafficking pathway that is able to repair membrane damage in the absence of dysferlin. GeneRIF 5873

Nightingale T.D., Pattni K., Hume A.N., Seabra M.C., Cutler D.F.

Blood 113:5010-5018(2009) GeneRIF 5873 · Mapped (5)
Rab27a and MyRIP regulate the amount and multimeric state of VWF released from endothelial cells. GeneRIF 5873