Ral GEF with PH domain and SH3 binding motif 1 (RALGPS1)

Ral GEF with PH domain and SH3 binding motif 1 (RALGPS1) is a guanine nucleotide exchange factor (GEF) protein encoded by the RALGPS1 gene in humans, located on chromosome 9[3][2]. It contains a Pleckstrin Homology (PH) domain, important for membrane localization, and SH3 binding motifs, which facilitate protein-protein interactions. RALGPS1 specifically activates the small GTPase RALA, thus regulating Ral signaling pathways involved in cytoskeletal organization, cell signaling, and possibly membrane trafficking. The gene is predicted to be expressed in the cytoplasm and plasma membrane. Diseases associated with variants or dysfunction in this protein include mitochondrial complex II deficiency and developmental and epileptic encephalopathy 4[2][9]. There are no approved drugs or known therapeutics that directly target RALGPS1, nor is it a routine clinical biomarker according to current sources.

Other names

RALGPS1RGPS1Ral guanine nucleotide exchange factor with PH domain and SH3 binding motif 1mKIAA0351RALGEF25830418G11Rik[2][10]