8yp0
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Crystal Structure of Human Rab23 Y79del in Complex with GMPPNP
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Structural highlights
DiseaseRAB23_HUMAN Carpenter syndrome. The disease is caused by variants affecting the gene represented in this entry. FunctionRAB23_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
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This page was last modified 06:18, 4 December 2024.