CAG46494.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
24,041 Da
NCBI Official Full Name
RAB27A, partial
NCBI Official Synonym Full Names
RAB27A, member RAS oncogene family
NCBI Protein Information
ras-related protein Rab-27A
UniProt Protein Name
Ras-related protein Rab-27A
UniProt Synonym Protein Names
GTP-binding protein Ram
UniProt Synonym Gene Names
UniProt Entry Name
RB27A_HUMAN
NCBI Summary for 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]
UniProt Comments for RAB27A
RAB27A: Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Defects in RAB27A are a cause of Griscelli syndrome type 2 (GS2). Griscelli syndrome is a 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. Belongs to the small GTPase superfamily. Rab family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: G protein, monomeric; G protein, monomeric, Rab
Chromosomal Location of Human Ortholog: 15q15-q21.1
Cellular Component: apical plasma membrane; cytosol; dendrite; Golgi apparatus; late endosome; lysosome; melanosome; photoreceptor outer segment; secretory granule; secretory granule membrane
Molecular Function: GDP binding; GTP binding; GTPase activity; myosin V binding; protein binding; protein domain specific binding
Biological Process: antigen processing and presentation; blood coagulation; cytotoxic T cell degranulation; exocytosis; melanocyte differentiation; melanosome localization; melanosome transport; metabolic process; natural killer cell degranulation; nucleocytoplasmic transport; positive regulation of exocytosis; positive regulation of phagocytosis; protein targeting; small GTPase mediated signal transduction; synaptic vesicle transport
Disease: Griscelli Syndrome, Type 2
Research Articles on RAB27A
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Products associated with anti-RAB27A antibody
Pathways associated with anti-RAB27A antibody
Diseases associated with anti-RAB27A antibody
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