🧬 基因注释：CAVIN1
官方名称：caveolae associated protein 1
功能摘要：This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009].
- PTBP1 综合评分: 0.474 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPL 综合评分: 0.362 · 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
- TIA1 综合评分: 0.348 · 证据 1 条
- Mbnl2 综合评分: 0.324 · 证据 1 条
- U2af1 综合评分: 0.324 · 证据 1 条
- UPF1 综合评分: 0.306 · 证据 1 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- Srsf2 综合评分: 0.300 · 证据 1 条
- PCBP2 综合评分: 0.298 · 证据 1 条
- Tardbp 综合评分: 0.294 · 证据 1 条
- YBX1 综合评分: 0.244 · 证据 1 条
- U2af2 综合评分: 0.224 · 证据 1 条
该基因暂无关联疾病记录