GGA3

Description

The GGA3 (golgi associated, gamma adaptin ear containing, ARF binding protein 3) is a protein-coding gene located on chromosome 17.

ADP-ribosylation factor-binding protein GGA3 is a protein that in humans is encoded by the GGA3 gene. This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Alternative splicing of this gene results in two transcript variants. GGA3 has been shown to interact with ARF1 and ARF3.

GGA3 plays a crucial role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. It mediates the recruitment of clathrin to the TGN in an ARF-dependent manner and binds ubiquitinated proteins and membrane cargo molecules via a cytosolic acidic cluster-dileucine (DXXLL) motif. GGA3 is responsible for the export of the GPCR receptor ADRA2B to the cell surface. It is involved in the transport and sorting of BACE1, regulating its protein levels. GGA3 regulates the retrograde transport of BACE1 from endosomes to the TGN through an interaction involving the VHS motif and dependent on BACE1 phosphorylation. Furthermore, it modulates BACE1 protein levels independently of the interaction between the VHS domain and the DXXLL motif by recognizing ubiquitination. GGA3 acts as a key player in a novel DXXLL-mediated endosomal sorting machinery that targets NTRK1 to the plasma membrane via the recycling pathway.

GGA3 is also known as -.

Associated Diseases

WES Whole Exome Sequencing