🧬 基因注释：SF1
📝 官方信息
官方名称：splicing factor 1
功能摘要：This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence at the 3' splice site, together with the large subunit of U2 auxiliary factor (U2AF), and is required for the early stages of spliceosome assembly. It also plays a role in nuclear pre-mRNA retention and transcriptional repression. The encoded protein contains an N-terminal U2AF ligand motif, a central hnRNP K homology motif and quaking 2 region which bind a key branch-site adenosine within the branch point sequence, a zinc knuckles domain, and a C-terminal proline-rich domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016].
🎯 作为靶基因的剪接因子
- ACIN1 置信度: 2.0
- CELF2 置信度: 2.0
- CPSF4 置信度: 2.0
- CPSF6 置信度: 2.0
- CPSF7 置信度: 2.0
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- EWSR1 置信度: 2.0
- FUBP1 置信度: 2.0
- FUBP3 置信度: 2.0
- GRSF1 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPH1 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPM 置信度: 2.0
- HNRNPU 置信度: 2.0
🏥 关联疾病
Neurodevelopmental disorder
(0.314)
neurodegenerative disease
(0.307)