Mouse anti-Human/Rat sapiens (Human) RAB27A Monoclonal Antibody

Function

The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:30771381). RAB27A regulates 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 (PubMed:18812475)

Subcellular Location

Membrane (Lipid-anchor); Melanosome; Late endosome; Lysosome

Disease Association

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. [The disease is caused by variants affecting the gene represented in this entry]

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

Subunit

Binds SYTL1, SLAC2B, MYRIP, SYTL3, SYTL4 and SYTL5. Interacts with RPH3A and RPH3A (By similarity). Interacts with MLPH (PubMed:12062444). Interacts with SYTL2 (PubMed:18812475, PubMed:35308027). Interacts with UNC13D (PubMed:15548590, PubMed:17237785). Does not interact with the BLOC-3 complex (heterodimer of HPS1 and HPS4) (PubMed:20048159). Interacts (GDP-bound form preferentially) with DENND10 (PubMed:30771381). Interacts with FBXO28; this interaction promotes RAB27A ubiquitination and proteasomal degradation (By similarity)

• Seabra M.C. et al. Deficient geranylgeranylation of Ram/Rab27 in choroideremia. — J. Biol. Chem. (1995)
• Seabra M.C. et al. PubMed: CI-54BQUAP65SVPQ (MAY-)
• Chen D. et al. Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets. — Biochem. Mol. Med. (1997)
• Tolmachova T. et al. Cloning, mapping and characterization of the human RAB27A gene. — Gene (1999)
• Hu R.-M. et al. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. — Proc. Natl. Acad. Sci. U.S.A. (2000)
• Anderson P.D. et al. Genomic organization of the human RAB27A gene. (NOV-)
• Puhl H.L. III et al. cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org). (APR-)
• Ebert L. et al. Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201). (JUN-)