Aliases for SF3B1 Gene
External Ids for SF3B1 Gene
This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
GeneCards Summary for SF3B1 Gene
SF3B1 (Splicing Factor 3b, Subunit 1, 155kDa) is a Protein Coding gene. Diseases associated with SF3B1 include myelodysplastic syndrome and anemia, sideroblastic, pyridoxine-refractory, autosomal recessive. Among its related pathways are Gene Expression and Spliceosome. GO annotations related to this gene include chromatin binding.
UniProtKB/Swiss-Prot for SF3B1 Gene
Subunit of the splicing factor SF3B required for A complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the E complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron