Structural highlights
Disease
RAB23_HUMAN Carpenter syndrome. The disease is caused by variants affecting the gene represented in this entry.
Function
RAB23_HUMAN 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 set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise, regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture by autophagosomes that then merge with lysosomes.[1] [2]
References
- ↑ Chi S, Xie G, Liu H, Chen K, Zhang X, Li C, Xie J. Rab23 negatively regulates Gli1 transcriptional factor in a Su(Fu)-dependent manner. Cell Signal. 2012 Jun;24(6):1222-8. doi: 10.1016/j.cellsig.2012.02.004. Epub 2012, Feb 18. PMID:22365972 doi:10.1016/j.cellsig.2012.02.004
- ↑ Nozawa T, Aikawa C, Goda A, Maruyama F, Hamada S, Nakagawa I. The small GTPases Rab9A and Rab23 function at distinct steps in autophagy during Group A Streptococcus infection. Cell Microbiol. 2012 Aug;14(8):1149-65. PMID:22452336 doi:10.1111/j.1462-5822.2012.01792.x
