RBM17
Function
Splice factor that binds to the single-stranded 3'AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia.
Cellular localization
- Nucleus
Alternative names
SPF45, RBM17, Splicing factor 45, 45 kDa-splicing factor, RNA-binding motif protein 17