RAPGEF1

Description

The RAPGEF1 (Rap guanine nucleotide exchange factor 1) is a protein-coding gene located on chromosome 9.

RAPGEF1 is a protein encoded by the RAPGEF1 gene in humans. It functions as a guanine nucleotide releasing protein for Ras protein and belongs to the adaptor-type Src homology (SH)2-containing molecules. Src homology 2 domains are globular protein modules involved in mediating binding events that control the activity and localization of proteins involved in signal transduction from the cell surface to the nucleus. RAPGEF1 transcripts are expressed ubiquitously in human adult and fetal tissues. Multiple alternatively spliced transcript variants have been described, though the full-length nature of some variants remains undetermined.

RAPGEF1 is a guanine nucleotide-releasing protein that binds to the SH3 domains of CRK and GRB2/ASH, facilitating signal transduction from CRK to activate RAS. It contributes to cell branching and adhesion through the BCAR1-CRK-RAPGEF1 signaling pathway, leading to activation of RAP1. Furthermore, RAPGEF1 plays a role in establishing basal endothelial barrier function and contributes to nerve growth factor (NGF)-induced sustained activation of Rap1 and neurite outgrowth.

RAPGEF1 is also known as C3G, GRF2.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing