RAB11A Human

RAB11A is a gene that encodes a protein belonging to the Rab family of small GTPases. These proteins are key regulators of intracellular membrane trafficking, which includes the formation of transport vesicles and their fusion with target membranes. The RAB11A protein is involved in both constitutive and regulated secretory pathways and plays a crucial role in protein transport.

• Gene Name: RAB11A, Member RAS Oncogene Family
• Protein Name: Ras-related protein Rab-11A
• Gene Location: Chromosome 15q22.31 in humans
• Protein Coding: Yes
• UniProtKB/Swiss-Prot ID: P62491

The RAB11A protein is a small GTPase that cycles between an inactive GDP-bound form and an active GTP-bound form. In its active form, it recruits various downstream effectors responsible for vesicle formation, movement, tethering, and fusion . Specifically, RAB11A regulates endocytic recycling, which is essential for maintaining cellular homeostasis and function .

RAB11A is involved in several cellular pathways, including:

• Vesicle-mediated transport: This pathway is crucial for the movement of molecules within cells.
• Aquaporin-mediated transport: This pathway involves the transport of water and small solutes across cell membranes .

RAB11A interacts with various proteins, including:

• RAB11FIP1, RAB11FIP2, RAB11FIP3, RAB11FIP4, and RAB11FIP5: These proteins are part of the Rab11 family of interacting proteins and play roles in vesicle trafficking .
• Moesin: This protein is involved in linking the actin cytoskeleton to the plasma membrane .

Mutations or dysregulation of the RAB11A gene have been associated with several diseases, including:

• Autosomal Dominant Non-Syndromic Intellectual Disability: A condition characterized by intellectual impairment without other syndromic features .
• Charcot-Marie-Tooth Disease, Type 4K: A hereditary disorder affecting the peripheral nerves .

RAB11A is a subject of extensive research due to its critical role in intracellular trafficking and its implications in various diseases. Recombinant RAB11A protein is used in research to study its function, interactions, and potential therapeutic applications.