🧬 基因注释：HUWE1
📝 官方信息
官方名称：HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
功能摘要：This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic cognitive disability. [provided by RefSeq, Aug 2013].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.494 · 证据 2 条
- HNRNPK 综合评分: 0.444 · 证据 2 条
- RBFOX2 综合评分: 0.424 · 证据 2 条
- Tardbp 综合评分: 0.422 · 证据 1 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPM 综合评分: 0.412 · 证据 2 条
- FUS 综合评分: 0.398 · 证据 1 条
- fus 综合评分: 0.398 · 证据 1 条
- MBNL2 综合评分: 0.386 · 证据 1 条
- HNRNPL 综合评分: 0.362 · 证据 2 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- Nova2 综合评分: 0.360 · 证据 1 条
- PCBP2 综合评分: 0.360 · 证据 1 条
- ELAVL3 综合评分: 0.358 · 证据 1 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- QKI 综合评分: 0.350 · 证据 1 条
- FUBP1 综合评分: 0.312 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录