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🧬 基因注释:RRBP1

📝 官方信息

官方名称:ribosome binding protein 1

功能摘要:This gene encodes a ribosome-binding protein of the endoplasmic reticulum (ER) membrane. Studies suggest that this gene plays a role in ER proliferation, secretory pathways and secretory cell differentiation, and mediation of ER-microtubule interactions. Alternative splicing has been observed and protein isoforms are characterized by regions of N-terminal decapeptide and C-terminal heptad repeats. Splicing of the tandem repeats results in variations in ribosome-binding affinity and secretory function. The full-length nature of variants which differ in repeat length has not been determined. Pseudogenes of this gene have been identified on chromosomes 3 and 7, and RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome, the result of a mutation in a nearby gene on chromosome 20p12. [provided by RefSeq, Apr 2012].

🎯 作为靶基因的剪接因子
  • HNRNPM 综合评分: 0.412 · 证据 2 条
  • Srsf3 综合评分: 0.398 · 证据 1 条
  • RBFOX2 综合评分: 0.362 · 证据 2 条
  • SRSF9 综合评分: 0.362 · 证据 1 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
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • QKI 综合评分: 0.350 · 证据 1 条
  • RBM39 综合评分: 0.312 · 证据 2 条
  • TIA1 综合评分: 0.312 · 证据 1 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • HNRNPK 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
🏥 关联疾病

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