Vacuolar protein sorting-associated protein 54 (VPS54)

Vacuolar protein sorting-associated protein 54 (VPS54) is a subunit of the Golgi-associated retrograde protein (GARP) complex, which is a multisubunit tethering factor essential for retrograde trafficking of vesicles from both early and late endosomes to the trans-Golgi network[1][4]. VPS54 is required for proper protein sorting within the endomembrane system, impacting retrieval of specific SNAREs and receptors in the cell. Structurally, VPS54 contains distinct N-terminal and C-terminal domains, with the N-terminus critical for complex assembly and the C-terminus involved in organelle localization and retrograde transport function. Mutations in this protein, especially within the C-terminal domain (e.g., L967Q), are associated with neurodegenerative phenotypes, particularly in mouse models of spinal muscular atrophy similar to ALS[2]. It is not currently considered a direct therapeutic target such as an enzyme, transporter, or receptor, but is of interest in the study of vesicle trafficking, neurodegeneration, and possibly certain cancers[2][3][4].

Other names

HCC8PPP1R164Hepatocellular carcinoma protein 8Tumor antigen HOM-HCC-8Tumor antigen SLP-8pSLP-8pVPS54LWRhVps54LGARP complex subunit