GGA1

Description

The GGA1 (golgi associated, gamma adaptin ear containing, ARF binding protein 1) is a protein-coding gene located on chromosome 22.

ADP-ribosylation factor-binding protein GGA1 is a protein that in humans is encoded by the GGA1 gene. This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are 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. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. == Interactions == GGA1 has been shown to interact with Sortilin 1, BACE2, RABEP1 and ARF3.

GGA1 plays a crucial role in the sorting and movement of proteins between the trans-Golgi network (TGN) and endosomes. It facilitates the recruitment of clathrin to the TGN in an ARF-dependent manner and interacts with ubiquitinated proteins and membrane cargo molecules through a DXXLL motif. Notably, GGA1 mediates the export of the GPCR receptor ADRA2B to the cell surface. Additionally, it is essential for targeting the PKD1:PKD2 complex from the TGN to the cilium membrane and regulates the retrograde transport of proteins such as phosphorylated BACE1 from endosomes back to the TGN.

GGA1 is also known as -.

Associated Diseases

WES Whole Exome Sequencing