SF3B1是致癌基因，编码蛋白（剪接因子3B亚基1）是剪接体复合物的组分，其调节从信使RNA中去除内含子。SF3B1结合核小体识别编码基因的外显子和内含子连接处。SF3B1也有助于姐妹染色单体结合和染色体分离。SF3B1的突变导致基因表达改变和异常选择性剪接并且倾向于是错义突变而不是无义或移码突变，表明功能获得或显性缺失活动。SF3B1的体细胞突变在葡萄膜黑色素瘤和骨髓增生异常综合征（MDS）中经常发生。SF3B1经常在血液系统恶性肿瘤中发生突变。

SF3B1 (splicing factor 3b subunit 1) is a component of the spliceosome complex that regulates the removal of introns from messenger RNA. SF3B1 binds to nucleosomes to identify exon and intron junctions of coding genes. Importantly, SF3B1 preferentially regulates alternative splicing and 3’ splice site selection. In addition, SF3B1 plays a role in the maintenance of genomic integrity due to contributions to sister chromatid cohesion and chromosome segregation. Somatic mutations in SF3B1 are recurrent in uveal melanoma and myelodysplastic syndromes (MDS) , especially those with refractory anemia with ring sideroblasts (RARS) and refractory cytopenia with multilineage dysplasia and ring sideroblasts (RCMD-RS). Mutations in SF3B1 lead to altered gene expression and aberrant alternative splicing and tend to be missense mutations rather than nonsense or frameshift mutations, suggesting either gain-of-function or dominant negative activity. The SF3B spliceosome complex can be inhibited by naturally occurring compounds, including spliceostatin A, and SF3B1-mutant cells are preferentially sensitive to spliceosome inhibitors.

GeneCards OncoKB My Cancer Genome