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🧬 基因注释:BTRC

📝 官方信息

官方名称:beta-transducin repeat containing E3 ubiquitin protein ligase

功能摘要:This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012].

🎯 作为靶基因的剪接因子
  • RBFOX2 综合评分: 0.506 · 证据 2 条
  • HNRNPK 综合评分: 0.362 · 证据 2 条
  • HNRNPA1 综合评分: 0.350 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.350 · 证据 2 条
  • HNRNPC 综合评分: 0.350 · 证据 2 条
  • HNRNPH1 综合评分: 0.350 · 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
  • QKI 综合评分: 0.350 · 证据 1 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • HNRNPD 综合评分: 0.300 · 证据 2 条
  • HNRNPL 综合评分: 0.300 · 证据 2 条
  • HNRNPU 综合评分: 0.300 · 证据 2 条
  • KHSRP 综合评分: 0.300 · 证据 2 条
  • PTBP1 综合评分: 0.300 · 证据 2 条
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • fus 综合评分: 0.300 · 证据 1 条
  • NOVA1 综合评分: 0.298 · 证据 2 条
  • PRPF8 综合评分: 0.298 · 证据 1 条
  • SF3A3 综合评分: 0.262 · 证据 1 条
🏥 关联疾病

该基因暂无关联疾病记录

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