FEATURES

DESCRIPTION

Also known as SPF45_HUMAN, RBM17, SPF45. 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. Binds SXL. Associates with the spliceosome. Interacts with SF3B1, SF1 and U2AF2.

EXTERNAL LINKS

uniprot
enzyme classification
PhosphoSitePlus

RBM17

Mutations

Mutation(s) distribution

Mutations table