SpliceAtlasDB
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🧬 基因注释:SF3B1

📝 官方信息

官方名称:splicing factor 3b subunit 1

功能摘要: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].

🎯 作为靶基因的剪接因子
🏥 关联疾病
chronic lymphocytic leukemia
(0.730)
myelodysplastic syndrome
(0.641)
lymphoid leukemia
(0.560)
breast adenocarcinoma
(0.535)
myeloproliferative disorder
(0.534)
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