RBM17

This gene encodes an RNA binding protein. The encoded protein is part of the spliceosome complex and functions in the second catalytic step of mRNA splicing. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 9 and 15. [provided by RefSeq, Mar 2009]

Full Name

RNA Binding Motif Protein 17

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.

Biological Process

Biological Process alternative mRNA splicing, via spliceosomeManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process mRNA cis splicing, via spliceosomeIEA:InterPro
Biological Process mRNA splicing, via spliceosomeManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Nucleus