rab27a proto-oncogene protein; Ras-related protein Rab-27A; Rab-27; GTP-binding protein Ram (RAB27A, RAB27)
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Function
- lytic granule release
- melanosome transport
- binds SYTL1, SYTL2, SLAC2B, MYRIP, SYTL3, SYTL4 & SYTL5 (putative).
- binds MLPH
Structure
belongs to the small GTPase superfamily, Rab family
Compartment
- membrane; lipid-anchor
- melanosome, stage 1 to stage 4
Alternative splicing
named isoforms=2; long, short
Expression
- found in all the examined tissues except in brain
- low expression was found in thymus, kidney, muscle & placenta
- detected in melanocytes, & in most tumor cell lines examined
Pathology
- defects in RAB27A are a cause of Griscelli syndrome type-2
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P51159.html
- ↑ RAB27Abase; Note: RAB27A mutation db http://bioinf.uta.fi/RAB27Abase/
- ↑ Mutations of the RAB27A gene Retina International's Scientific newsletter http://www.retina-international.com/sci-news/rab27mut.htm
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB27A
- ↑ Seabra MC et al Rab GTPases, intracellular traffic and disease Trends in Molecular Medicine 8:23, 2002 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11796263
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5873