Aliases for GGA3 Gene
External Ids for GGA3 Gene
Previous GeneCards Identifiers for 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. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]
GeneCards Summary for GGA3 Gene
GGA3 (Golgi Associated, Gamma Adaptin Ear Containing, ARF Binding Protein 3) is a Protein Coding gene. Diseases associated with GGA3 include Nephrotic Syndrome, Type 17 and Amelogenesis Imperfecta, Type If. Among its related pathways are Neuroscience and TBC/RABGAPs. Gene Ontology (GO) annotations related to this gene include ADP-ribosylation factor binding. An important paralog of this gene is GGA1.
UniProtKB/Swiss-Prot Summary for GGA3 Gene
Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (DXXLL) motif (PubMed:11301005). Mediates export of the GPCR receptor ADRA2B to the cell surface (PubMed:26811329). nvolved in BACE1 transport and sorting as well as regulation of BACE1 protein levels (PubMed:17553422, PubMed:15615712, PubMed:20484053). Regulates retrograde transport of BACE1 from endosomes to the trans-Golgi network via interaction through the VHS motif and dependent of BACE1 phosphorylation (PubMed:15615712). Modulates BACE1 protein levels intedepently of the interaction between VHS domain and DXXLL motif through recognition of ubiquitination (PubMed:20484053). Key player in a novel DXXLL-mediated endosomal sorting machinery to the recycling pathway that targets NTRK1 to the plasma membrane (By similarity).