Aliases for RAPGEF1 Gene
External Ids for RAPGEF1 Gene
Previous HGNC Symbols for RAPGEF1 Gene
Previous GeneCards Identifiers for RAPGEF1 Gene
This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for RAPGEF1 Gene
RAPGEF1 (Rap Guanine Nucleotide Exchange Factor 1) is a Protein Coding gene. Diseases associated with RAPGEF1 include Hemolytic Uremic Syndrome, Atypical 1 and Transient Refractive Change. Among its related pathways are Signaling by GPCR and Development HGF signaling pathway. Gene Ontology (GO) annotations related to this gene include SH3 domain binding and Rap guanyl-nucleotide exchange factor activity. An important paralog of this gene is ENSG00000273217.
UniProtKB/Swiss-Prot Summary for RAPGEF1 Gene
Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH. Transduces signals from CRK to activate RAS. Involved in cell branching and adhesion mediated by BCAR1-CRK-RAPGEF1 signaling and activation of RAP1 (PubMed:12432078). Plays a role in the establishment of basal endothelial barrier function. Plays a role in nerve growth factor (NGF)-induced sustained activation of Rap1 and neurite outgrowth.