DISEASES

Disease-gene associations mined from literature

Literature on ARFGAP1

ARFGAP1 [ENSP00000314615]

ADP-ribosylation factor GTPase-activating protein 1; 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).

Synonyms:  ARFGAP1,  ARFGAP1p,  hARFGAP1,  E5RGL6,  E5RHC5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM