C9orf78

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 (PubMed:35241646). May also modulate exon inclusion events (PubMed:35241646). Plays a role in spliceosomal remodeling by displacing WBP4 from SNRNP200 and may act to inhibit SNRNP200 helicase activity (PubMed:35241646). Binds U5 snRNA (PubMed:35241646). Required for proper chromosome segregation (PubMed:35167828). Not required for splicing of shelterin components (PubMed:35167828).

Belongs to the TLS1 family.

• Nucleus
• Chromosome
• Centromere
• Dispersed throughout the nucleus during interphase (PubMed:35167828). Colocalizes with microtubule attachment sites at centromeres following mitotic checkpoint activation (PubMed:35167828).

HCA59, C9orf78, Splicing factor C9orf78, Hepatocellular carcinoma-associated antigen 59

• entrezGene:51759
• swissprot:Q9NZ63

Proteins

Immunology & Infectious Disease

33688Da