Splicing factor C9orf78
Definition:
Plays a role in pre-mRNA splicing by promoting usage of the upstream 3'-splice site at alternative NAGNAG splice sites; these are sites featuring alternative acceptor motifs separated by only a few nucleotides. May also modulate exon inclusion events. Plays a role in spliceosomal remodeling by displacing WBP4 from SNRNP200 and may act to inhibit SNRNP200 helicase activity. Binds U5 snRNA. Required for proper chromosome segregation. Not required for splicing of shelterin components.
References:
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[1]. Radhika Koranne, et al. C9ORF78 partially localizes to centromeres and plays a role in chromosome segregation. Exp Cell Res. 2022 Apr 15;413(2):113063. [Content Brief]
[2]. Alexandra Bergfort, et al. A multi-factor trafficking site on the spliceosome remodeling enzyme BRR2 recruits C9ORF78 to regulate alternative splicing. Nat Commun. 2022 Mar 3;13(1):1132. [Content Brief]
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