Entrez 23451 | Ensembl ENSG00000115524 | |
Aliases SF3B1, Hsh155, MDS, PRP10, PRPF10, SAP155, SF3b155, splicing factor 3b subunit 1 External IDs MGI: 1932339 HomoloGene: 6696 GeneCards: SF3B1 | ||
Live from ash 2011 validation of a prognostic model and the impact of sf3b1 dnmt3a and other muta
Splicing factor 3B subunit 1 is a protein that in humans is encoded by the SF3B1 gene.
Contents
- Live from ash 2011 validation of a prognostic model and the impact of sf3b1 dnmt3a and other muta
- Function
- Interactions
- Clinical relevance
- References
Function
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.
Interactions
SF3B1 has been shown to interact with:
Clinical relevance
Mutations in this gene have been recurrently seen in cases of advanced chronic lymphocytic leukemia, myelodysplastic syndromes and breast cancer. There is also an emerging body of evidence to suggest implications of SF3B1 mutations being involved in orbital melanoma.