Aliases for ARFGAP1 Gene
External Ids for ARFGAP1 Gene
Previous HGNC Symbols for ARFGAP1 Gene
Previous GeneCards Identifiers for ARFGAP1 Gene
The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
GeneCards Summary for ARFGAP1 Gene
ARFGAP1 (ADP Ribosylation Factor GTPase Activating Protein 1) is a Protein Coding gene. Diseases associated with ARFGAP1 include Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant and Hypotrichosis-Lymphedema-Telangiectasia Syndrome. Among its related pathways are Golgi-to-ER retrograde transport and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is ARFGAP3.
UniProtKB/Swiss-Prot Summary for ARFGAP1 Gene
GTPase-activating protein (GAP) for the ADP ribosylation factor 1 (ARF1). Involved in membrane trafficking and /or vesicle transport. Promotes hydrolysis of the ARF1-bound GTP and thus, is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles, a prerequisite for vesicle's fusion with target compartment. Probably regulates ARF1-mediated transport via its interaction with the KDELR proteins and TMED2. Overexpression induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, as when ARF1 is deactivated. Its activity is stimulated by phosphoinosides and inhibited by phosphatidylcholine (By similarity).