FEATURES

FAMILY

DESCRIPTION

Also known as SLU7_HUMAN, SLU7. Required for pre-mRNA splicing as component of the spliceosome (PubMed:10197984, PubMed:28502770, PubMed:30705154). Participates in the second catalytic step of pre-mRNA splicing, when the free hydroxyl group of exon I attacks the 3'-splice site to generate spliced mRNA and the excised lariat intron. Required for holding exon 1 properly in the spliceosome and for correct AG identification when more than one possible AG exists in 3'-splicing site region. May be involved in the activation of proximal AG. Probably also involved in alternative splicing regulation. Component of pre-catalytic, catalytic and post-catalytic spliceosomes (PubMed:10197984, PubMed:28502770, PubMed:30705154). Associates with the spliceosome prior to recognition of the 3'-splice site for step II, probably during catalysis of step I (PubMed:10197984).

EXTERNAL LINKS

SLU7

Mutations

Mutation(s) distribution

Mutations table