🧬 基因注释：RBFOX1
📝 官方信息
官方名称：RNA binding fox-1 homolog 1
功能摘要：The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011].
🎯 作为靶基因的剪接因子
- CPEB4 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
- GRSF1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPD 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
- NOVA1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- RBM15 置信度: 2.0
- RBM20 置信度: 2.0
- CPSF1 置信度: 1.0
🏥 关联疾病
Rolandic epilepsy
(0.477)
self-limited epilepsy with centrotemporal spikes
(0.474)
major depressive disorder
(0.455)
genetic disorder
(0.451)
obesity
(0.427)