RAB27A

The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

RAB27A, Member RAS Oncogene Family

Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion (PubMed:30771381).
Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse.

Biological Process antigen processing and presentationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process blood coagulationIEA:Ensembl
Biological Process complement-dependent cytotoxicityManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process cytotoxic T cell degranulationIEA:Ensembl
Biological Process exocytosisManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process exosomal secretionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process melanocyte differentiationIEA:Ensembl
Biological Process melanosome localizationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process melanosome transport1 PublicationNAS:UniProtKB
Biological Process multivesicular body organizationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process multivesicular body sorting pathwayManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process natural killer cell degranulationIEA:Ensembl
Biological Process positive regulation of constitutive secretory pathwayManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of exocytosisManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of gene expressionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of phagocytosisManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of reactive oxygen species biosynthetic processManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of regulated secretory pathwayManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process synaptic vesicle transportManual Assertion Based On ExperimentTAS:ParkinsonsUK-UCL
Biological Process vesicle-mediated transportManual Assertion Based On ExperimentIBA:GO_Central

Membrane
Melanosome
Late endosome
Lysosome
Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:12643545, PubMed:17081065).
Localizes to endosomal exocytic vesicles (PubMed:17237785).

Griscelli syndrome 2 (GS2):
Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some patients, likely as a result of hemophagocytic syndrome.