| Pubmed | emedicine | OMIM | NORD | Web | Ggl Images | Yho Images | Videos |

Rab GTPases

RABs, RAS-related RAB proteins, ras-related superfamily of GTPases

 
Cellular organelles in the exocytic and endocytic pathways have a distinctive spatial distribution and communicate through an elaborate system of vesiculo-tubular transport. RABs proteins and their effectors coordinate consecutive stages of transport, such as vesicle formation, vesicle and organelle motility, and tethering of vesicles to their target compartment. RABs are highly compartmentalized in organelle membranes, making them excellent candidates for determining transport specificity and organelle identity.

Members

The human genome is predicted to contain 60 RAB genes, suggesting that future work could reveal further links between Rab dysfunction and disease.

RAB1 RAB2 RAB3 RAB4 RAB5A RAB5B RAB5C RAB6 RAB7 RAB8 RAB9
RAB10 RAB11 RAB12 RAB13 RAB14 RAB15 RAB16 RAB17 RAB18 RAB19
RAB20 RAB21 RAB22 RAB23 RAB24 RAB25 RAB26 RAB27 RAB28 RAB29

Pathology

-  RAB7 : Charcot-Marie-Tooth disease
-  RAB27A : Griscelli disease
-  Rab escort protein-1 (choroideremia)
-  Rab geranylgeranyl transferase (Hermansky-Pudlak syndrome)
-  Rab GDP dissociation inhibitor-alpha (X-linked mental retardation)
-  The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis. TSC2 is mutated in tuberous sclerosis.

Features

-  endocytic Rabs in infectious diseases caused by intracellular microorganisms

References

-  Seabra MC, Mules EH, Hume AN. Rab GTPases, intracellular traffic and disease. Trends Mol Med. 2002 Jan;8(1):23-30. PMID: #11796263#

-  Zerial M, McBride H. Rab proteins as membrane organizers. Nat Rev Mol Cell Biol. 2001 Feb;2(2):107-17. PMID: #11252952#

-  Pfeffer SR. Rab GTPases: specifying and deciphering organelle identity and function. Trends Cell Biol. 2001 Dec;11(12):487-91. PMID: #11719054#


Rab GTPases pathways - Rab GTPases mark targets in the endocytotic machinery. From Biocarta
Make a note

Forum de l'article

Contact us at humpath2004@yahoo.ca if you want to be the curator of this page or this section.
Copyright www.humpath.com