MGP Database

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MGP002557

UniProt Annotations

Entry Information
Gene NameRAB27A, member RAS oncogene family
Protein EntryRB27A_HUMAN
UniProt IDP51159
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=Long; IsoId=P51159-1; Sequence=Displayed; Name=Short; IsoId=P51159-2; Sequence=VSP_005529; Note=No experimental confirmation available.;
DiseaseGriscelli syndrome 2 (GS2) [MIM:607624]: 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. {ECO:0000269|PubMed:10835631}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPlays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. {ECO:0000269|PubMed:18812475}.
SimilarityBelongs to the small GTPase superfamily. Rab family. {ECO:0000305}.
Subcellular LocationMembrane; Lipid-anchor. Melanosome. Late endosome. Lysosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Localizes to endosomal exocytic vesicles.
SubunitBinds SYTL1, SLAC2B, MYRIP, SYTL3, SYTL4 and SYTL5. Interacts with RPH3A and RPH3A (By similarity). Binds MLPH and SYTL2. Interacts with UNC13D. {ECO:0000250, ECO:0000269|PubMed:12062444, ECO:0000269|PubMed:15548590, ECO:0000269|PubMed:17237785, ECO:0000269|PubMed:18812475}.
Tissue SpecificityFound in all the examined tissues except in brain. Low expression was found in thymus, kidney, muscle and placenta. Detected in melanocytes, and in most tumor cell lines examined. Expressed in cytotoxic T-lymphocytes (CTL) and mast cells. {ECO:0000269|PubMed:15548590}.
Web ResourceName=Mutations of the RAB27A gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/rab27mut.htm";
Web ResourceName=RAB27Abase; Note=RAB27A mutation db; URL="http://structure.bmc.lu.se/idbase/RAB27Abase/";
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