Aliases for ARFGEF1 Gene
External Ids for ARFGEF1 Gene
Previous GeneCards Identifiers for ARFGEF1 Gene
ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]
GeneCards Summary for ARFGEF1 Gene
ARFGEF1 (ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 1) is a Protein Coding gene. Diseases associated with ARFGEF1 include Joubert Syndrome 21 and Generalized Epilepsy With Febrile Seizures Plus, Type 6. Among its related pathways are Endocytosis. Gene Ontology (GO) annotations related to this gene include binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARFGEF2.
UniProtKB/Swiss-Prot Summary for ARFGEF1 Gene
Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through replacement of GDP with GTP. Involved in vesicular trafficking. Required for the maintenance of Golgi structure; the function may be independent of its GEF activity. Required for the maturaion of integrin beta-1 in the Golgi. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways. Inhibits GAP activity of MYO9B probably through competetive RhoA binding. The function in the nucleus remains to be determined.