SF3B6


Description

The SF3B6 (splicing factor 3b subunit 6) is a protein-coding gene located on chromosome 2.

SF3B6 is a component of the 17S U2 snRNP complex, a large ribonucleoprotein complex involved in removing introns from transcribed pre-mRNAs. It plays a crucial role in early spliceosome assembly and mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing. Within the 17S U2 snRNP complex, SF3B6 is part of the SF3B subcomplex, which is essential for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA. Sequence-independent binding of SF3A and SF3B subcomplexes upstream of the branch site is critical for anchoring U2 snRNP to the pre-mRNA. SF3B6 directly contacts the pre-mRNA branch site adenosine for the first catalytic step of splicing and stabilizes the intron branch site-U2 snRNA duplex, facilitating the binding of introns with poor sequence complementarity. In addition, SF3B6 acts as a component of the minor spliceosome, involved in splicing U12-type introns in pre-mRNAs.

SF3B6 is also known as CGI-110, HSPC175, Ht006, P14, SAP14, SAP14a, SF3B14, SF3B14a.

Associated Diseases



Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.