ARHGEF7
Description
The ARHGEF7 (Rho guanine nucleotide exchange factor 7) is a protein-coding gene located on chromosome 13.
ARHGEF7, also known as Rho guanine nucleotide exchange factor 7, is a protein encoded by the ARHGEF7 gene in humans. It is commonly known as Beta-Pix due to its binding to p21-activated kinase (PAK) and its guanine nucleotide exchange factor domain. Beta-Pix functions as a signaling scaffold protein and an enzyme, sharing this structure and function with the similar ARHGEF6/αPIX protein. It undergoes extensive alternative splicing, generating multiple variant proteins with or without particular protein domains. Adult forms lack the amino terminal CH domain, and the two major adult variants have alternate carboxyl terminal regions, termed β1 and β2. Beta-Pix contains a central DH/PH RhoGEF domain that functions as a guanine nucleotide exchange factor (GEF) for small GTPases of the Rho family, specifically Rac and Cdc42. Like other GEFs, Beta-Pix can promote both the release of GDP from an inactive small GTP-binding protein and the binding of GTP to activate it. Beta-Pix's SH3 domain binds to partner proteins with appropriate polyproline motifs, particularly group I p21-activated kinases (PAKs), such as PAK1, PAK2, and PAK3.
ARHGEF7 is also known as BETA-PIX, COOL-1, COOL1, Nbla10314, P50, P50BP, P85, P85COOL1, P85SPR, PAK3, PIXB.
Associated Diseases
- thyroid gland adenocarcinoma
- cancer
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
