SF3B1

(redirected from splicing factor 3b, subunit 1, 155kDa)

SF3B1

A gene on chromosome 2q33.1 that encodes subunit 1 of the splicing factor SF3B, which is required for “A” complex assembly by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA. Binding of the SF3A/SF3B complex upstream of the branch site may anchor U2 snRNP to pre-mRNA. SF3B1 may be involved in assembling the “E” complex.
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In addition, mutations in genes involved in the RNA-splicing machinery, such as SF3B1 (splicing factor 3b, subunit 1, 155kDa), SRSF2 (serine/arginine-rich splicing factor 2), U2AF1 [U2 small nuclear RNA auxiliary factor 1 (also known as U2AF35)], and ZRSR2 [zinc finger (CCCH type), RNA-binding motif and serine/arginine rich], have recently been identified in MDS and in chronic myelomonocytic leukemia (CMML), as well as in AML and MPN at lower frequencies (5-7).

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