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🧬 基因注释:AP3M1

📝 官方信息

官方名称:adaptor related protein complex 3 subunit mu 1

功能摘要:The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016].

🎯 作为靶基因的剪接因子
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • HNRNPK 综合评分: 0.398 · 证据 2 条
  • PTBP1 综合评分: 0.362 · 证据 2 条
  • HNRNPA1 综合评分: 0.350 · 证据 2 条
  • HNRNPC 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
  • EWSR1 综合评分: 0.348 · 证据 2 条
  • PCBP2 综合评分: 0.344 · 证据 1 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • HNRNPU 综合评分: 0.300 · 证据 2 条
  • KHSRP 综合评分: 0.300 · 证据 2 条
  • RBFOX2 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
  • ELAVL3 综合评分: 0.260 · 证据 1 条
  • FUBP1 综合评分: 0.250 · 证据 2 条
  • RBM10 综合评分: 0.250 · 证据 2 条
  • RBM15 综合评分: 0.250 · 证据 2 条
  • TIA1 综合评分: 0.250 · 证据 1 条
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