SpliceAtlasDB
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🧬 基因注释:TFIP11

📝 官方信息

官方名称:tuftelin interacting protein 11

功能摘要:This gene encodes a protein component of the spliceosome that promotes the release of the lariat-intron during late-stage splicing through the recruitment of a pre-mRNA splicing factor called DEAH-box helicase 15. The encoded protein contains a G-patch domain, a hallmark of RNA-processing proteins, that binds DEAH-box helicase 15. This protein contains an atypical nuclear localization sequence as well as a nuclear speckle-targeting sequence, enabling it to localize to distinct speckled regions within the cell nucleus. Polymorphisms in this gene are associated with dental caries suggesting a role in amelogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016].

🎯 作为靶基因的剪接因子
🏥 关联疾病
neurodegenerative disease
(0.487)
malunion fracture
(0.241)
skin cancer
(0.240)
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