Aliases for RAPGEF5 Gene
External Ids for RAPGEF5 Gene
Previous GeneCards Identifiers for RAPGEF5 Gene
Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]
GeneCards Summary for RAPGEF5 Gene
RAPGEF5 (Rap Guanine Nucleotide Exchange Factor 5) is a Protein Coding gene. Diseases associated with RAPGEF5 include Microphthalmia, Syndromic 10. Among its related pathways are Ras signaling pathway and G-protein signaling_Cross-talk between Ras-family GTPases. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and Ras guanyl-nucleotide exchange factor activity. An important paralog of this gene is RAPGEF4.
UniProtKB/Swiss-Prot Summary for RAPGEF5 Gene
Guanine nucleotide exchange factor (GEF) for RAP1A, RAP2A and MRAS/M-Ras-GTP. Its association with MRAS inhibits Rap1 activation.