TBC1D1 Human

TBC1 Domain Family, Member 1 (TBC1D1) is a protein encoded by the TBC1D1 gene in humans. This protein is a founding member of a family of proteins that share a 180- to 200-amino acid TBC domain. The TBC domain is presumed to play a role in regulating cell growth and differentiation .

The TBC1D1 gene is located on chromosome 4 and is known by several aliases, including KIAA1108 and TBC. The protein encoded by this gene is involved in various cellular processes, including vesicle-mediated transport and the PI3K-Akt signaling pathway . TBC1D1 functions as a GTPase-activating protein (GAP) for Rab family proteins, which are involved in intracellular vesicle trafficking .

TBC1D1 is believed to play a significant role in the cell cycle and differentiation of various tissues. It is particularly involved in the trafficking and translocation of GLUT4-containing vesicles, which are crucial for insulin-stimulated glucose uptake into cells . This function is vital for maintaining glucose homeostasis in the body.

TBC1D1 is expressed in various tissues, including skeletal muscle, testis, and lymphoid tissues. It is involved in several biological processes, such as protein ubiquitination, immune response, and transmembrane transport . The protein’s expression and localization are critical for its function in different cellular contexts.

Mutations or dysregulation of the TBC1D1 gene have been associated with several diseases, including intracerebral hemorrhage and rare genetic renal diseases . Understanding the function and regulation of TBC1D1 is essential for developing potential therapeutic strategies for these conditions.

Human recombinant TBC1D1 is used in various research applications to study its function and role in cellular processes. Recombinant proteins are produced through genetic engineering techniques, allowing researchers to investigate the protein’s properties and interactions in a controlled environment .