G patch domain-containing protein 8 (GPATCH8)

G patch domain-containing protein 8 (GPATCH8) is a human protein encoded by the GPATCH8 gene, characterized by an RNA-processing domain, zinc finger domain, lysine-rich, and serine-rich regions. GPATCH8 acts as an RNA-binding protein involved in mRNA splicing and the quality control of branchpoint selection, interacting with the RNA helicase DHX15 and functionally opposing proteins such as SUGP1 during spliceosome assembly. Mutations in GPATCH8 have been implicated in hyperuricemia co-segregating with osteogenesis imperfecta. More recently, GPATCH8 has emerged as a critical factor in aberrant splicing mechanisms related to SF3B1-mutant cancers, where its silencing corrects a significant proportion of abnormal splicing events and improves hematopoiesis in disease models, highlighting its potential as a component of the splicing machinery, but it is not currently considered a direct drug target or receptor.

Other names

KIAA0553GPATC8G-patch domain containing 8GPTC8