Linked Life Data

P51159

Source:http://identifiers.org/uniprot/P51159

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
biopax3:comment
FUNCTION: Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. SUBUNIT: Binds SYTL1, SLAC2B, MYRIP, SYTL3, SYTL4 and SYTL5 (By similarity). Binds MLPH and SYTL2. Interacts with UNC13D. SUBCELLULAR LOCATION: Membrane; 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. ALTERNATIVE PRODUCTS: Event=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; TISSUE SPECIFICITY: Found 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. DISEASE: Defects in RAB27A are a cause of Griscelli syndrome type 2 (GS2) [MIM:607624]. 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. SIMILARITY: Belongs to the small GTPase superfamily. Rab family. WEB RESOURCE: Name=RAB27Abase; Note=RAB27A mutation db; URL="http://bioinf.uta.fi/RAB27Abase/"; WEB RESOURCE: Name=Mutations of the RAB27A gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/rab27mut.htm"; GENE SYNONYMS:RAB27A RAB27. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License., SEQUENCE 221 AA; 24868 MW; 4A6A0C8C5CC41A20 CRC64;
biopax3:xref
biopax3:displayName
RB27A_HUMAN
biopax3:name
GTP-binding protein Ram, RAB27A, Rab-27
biopax3:entityFeature
biopax3:organism
biopax3:sequence
MSDGDYDYLIKFLALGDSGVGKTSVLYQYTDGKFNSKFITTVGIDFREKRVVYRASGPDGATGRGQRIHLQLWDTAGQERFRSLTTAFFRDAMGFLLLFDLTNEQSFLNVRNWISQLQMHAYCENPDIVLCGNKSDLEDQRVVKEEEAIALAEKYGIPYFETSAANGTNISQAIEMLLDLIMKRMERCVDKSWIPEGVVRSNGHASTDQLSEEKEKGACGC
biopax3:standardName
Ras-related protein Rab-27A