基因注释：PJA1
官方信息
官方名称：praja ring finger ubiquitin ligase 1
功能摘要：This gene encodes an enzyme that has E2-dependent E3 ubiquitin-protein ligase activity. This enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with the E2 ubiquitin-conjugating enzyme UbcH5B. This gene is located in an area of chromosome X where several X-linked cognitive disability disorders have been associated, and it has also been found as part of a contiguous gene deletion associated with craniofrontonasal syndrome, though a direct link to any disorder has yet to be demonstrated. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010].
作为靶基因的剪接因子
- MBNL1 综合评分: 0.350 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 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
- Tardbp 综合评分: 0.248 · 证据 1 条
- Rbmx 综合评分: 0.224 · 证据 1 条
- CPSF6 综合评分: 0.212 · 证据 2 条
- Mbnl2 综合评分: 0.200 · 证据 1 条
- Nova2 综合评分: 0.200 · 证据 1 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- ELAVL3 综合评分: 0.162 · 证据 1 条
- CPSF7 综合评分: 0.150 · 证据 2 条
- U2af1 综合评分: 0.150 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
关联疾病
该基因暂无关联疾病记录