🧬 基因注释：HINT1
📝 官方信息
官方名称：histidine triad nucleotide binding protein 1
功能摘要：This gene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a histidine triad motif. This gene is considered a tumor suppressor gene. In addition, mutations in this gene can cause autosomal recessive neuromyotonia and axonal neuropathy. There are several related pseudogenes on chromosome 7. Several transcript variants have been observed. [provided by RefSeq, Dec 2015].
🎯 作为靶基因的剪接因子
- FUS 综合评分: 0.506 · 证据 1 条
- fus 综合评分: 0.506 · 证据 1 条
- Tardbp 综合评分: 0.486 · 证据 1 条
- RBFOX2 综合评分: 0.486 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPC 综合评分: 0.412 · 证据 2 条
- HNRNPK 综合评分: 0.398 · 证据 2 条
- HNRNPL 综合评分: 0.398 · 证据 2 条
- Srsf2 综合评分: 0.362 · 证据 1 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- U2af2 综合评分: 0.306 · 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
- PTBP1 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
- PRPF8 综合评分: 0.298 · 证据 1 条
- ACIN1 综合评分: 0.274 · 证据 2 条
- CSTF2 综合评分: 0.274 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录