RAB13
Description
The RAB13 (RAB13, member RAS oncogene family) is a protein-coding gene located on chromosome 1.
Ras-related protein Rab-13 is a protein that in humans is encoded by the RAB13 gene.
RAB13, also known as Cell growth-inhibiting gene 4 protein, is a small GTPase involved in intracellular membrane trafficking. It cycles between an inactive GDP-bound form and an active GTP-bound form, recruiting different sets of downstream effectors to membranes for vesicle formation, movement, tethering, and fusion. RAB13 participates in endocytic recycling and regulates the transport of transmembrane proteins, such as the tight junction protein OCLN/occludin, to the plasma membrane. This role in transmembrane protein transport influences the assembly and activity of tight junctions. Additionally, RAB13 may regulate tight junction assembly by activating the PKA signaling pathway and reorganizing the actin cytoskeleton through the activation of PRKACA and MICALL2, respectively. RAB13's contribution to tight junction assembly potentially plays a role in the establishment of the Sertoli cell barrier. It also contributes to angiogenesis by regulating endothelial cell chemotaxis and is involved in neurite outgrowth. RAB13 has been proposed to play a role in post-Golgi membrane trafficking from the TGN to the recycling endosome. Furthermore, it has been linked to insulin-induced transport of the glucose transporter GLUT4 to the plasma membrane, potentially playing a role in glucose homeostasis.
RAB13 is also known as GIG4.
Associated Diseases
- cancer
- reticular dysgenesis
- immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- prostate cancer
- hyper-IgM syndrome type 3
- immunodeficiency 105
- short-limb skeletal dysplasia with severe combined immunodeficiency
- immunodeficiency 72 with autoinflammation
- severe combined immunodeficiency due to CD70 deficiency
- immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia