🧬 基因注释:RUBCN
📝 官方信息
官方名称:rubicon autophagy regulator
功能摘要:The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.494 · 证据 2 条
- HNRNPA1 综合评分: 0.412 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- PTBP1 综合评分: 0.398 · 证据 2 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- Tardbp 综合评分: 0.294 · 证据 1 条
- Ptbp2 综合评分: 0.262 · 证据 1 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- RBM22 综合评分: 0.250 · 证据 2 条
- RBM39 综合评分: 0.250 · 证据 2 条
- TIA1 综合评分: 0.250 · 证据 1 条
- GRSF1 综合评分: 0.248 · 证据 2 条
- YBX1 综合评分: 0.224 · 证据 1 条
- MSI1 综合评分: 0.212 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录