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🧬 基因注释:CNTNAP1

📝 官方信息

官方名称:contactin associated protein 1

功能摘要:The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009].

🎯 作为靶基因的剪接因子
  • HNRNPH1 综合评分: 0.474 · 证据 2 条
  • MBNL2 综合评分: 0.429 · 证据 1 条
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • Tardbp 综合评分: 0.364 · 证据 1 条
  • HNRNPK 综合评分: 0.362 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • ELAVL3 综合评分: 0.336 · 证据 1 条
  • PRPF8 综合评分: 0.324 · 证据 1 条
  • TIA1 综合评分: 0.312 · 证据 1 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • PTBP1 综合评分: 0.300 · 证据 2 条
  • RBFOX2 综合评分: 0.300 · 证据 2 条
  • SRSF9 综合评分: 0.300 · 证据 1 条
  • fus 综合评分: 0.300 · 证据 1 条
  • Mbnl2 综合评分: 0.262 · 证据 1 条
  • PCBP2 综合评分: 0.262 · 证据 1 条
  • RBM15 综合评分: 0.250 · 证据 2 条
  • Srsf1 综合评分: 0.248 · 证据 1 条
  • PRPF4 综合评分: 0.212 · 证据 1 条
  • SF3A3 综合评分: 0.200 · 证据 1 条
🏥 关联疾病

该基因暂无关联疾病记录

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