🧬 基因注释：DENND5A
📝 官方信息
官方名称：DENN domain containing 5A
功能摘要：This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-bound form. The encoded protein is recruited by RAB6 onto Golgi membranes and is therefore referred to as RAB6-interacting protein 1. This protein binds with RAB39 as well. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49. [provided by RefSeq, Feb 2017].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.598 · 证据 2 条
- HNRNPM 综合评分: 0.448 · 证据 2 条
- HNRNPH1 综合评分: 0.412 · 证据 2 条
- Srsf3 综合评分: 0.398 · 证据 1 条
- FUS 综合评分: 0.362 · 证据 1 条
- HNRNPD 综合评分: 0.362 · 证据 2 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- SRSF3 综合评分: 0.362 · 证据 1 条
- fus 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
- MBNL1 综合评分: 0.350 · 证据 2 条
- EWSR1 综合评分: 0.348 · 证据 2 条
- ELAVL3 综合评分: 0.348 · 证据 1 条
- PRPF8 综合评分: 0.324 · 证据 1 条
- RBM10 综合评分: 0.312 · 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
🏥 关联疾病
该基因暂无关联疾病记录