人 hnRNP U 抗体对
01AB01719
Heterogeneous nuclear ribonucleoprotein U (hnRNP U) is a multifunctional nuclear protein that binds both DNA and RNA to regulate gene expression and chromatin architecture. It contains an N-terminal acidic region, a C-terminal RGG/RG RNA-binding domain, and a scaffold/matrix attachment region (SAR/MAR)-specific DNA-binding domain. hnRNP U is essential for pre-mRNA processing, transcriptional regulation, telomere-length control, and the higher-order organization of chromatin. Clinically, HNRNPU haploinsufficiency or pathogenic variants are well-established causes of an early-onset developmental and epileptic encephalopathy characterized by global developmental delay, intellectual disability, hypotonia, and seizures. Additionally, dysregulated expression of hnRNP U has been linked to tumorigenesis in various cancers, reflecting its critical role in maintaining genomic and transcriptomic stability.
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技术参数
- 靶点基因名
- HNRNPU
- 基因别名
- C1orf199; HNRPU; SAFA; U21.1
- 蛋白别名
- heterogeneous nuclear ribonucleoprotein U; hnRNP U
- UniProt
- Q00839
- 物种
- Human
产品详情
- 靶点名称
- hnRNP U
- 蛋白名称
- heterogeneous nuclear ribonucleoprotein U
- 蛋白别名
- Heterogeneous nuclear ribonucleoprotein U; hnRNP U; GRIP120; Nuclear p120 ribonucleoprotein; Scaffold-attachment factor A; SAF-A; p120; pp120
- 靶点基因名
- HNRNPU
- 基因别名
- C1orf199; HNRPU; SAFA; U21.1
- UniProt
- Q00839
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Heterogeneous nuclear ribonucleoprotein U (hnRNP U) is a multifunctional nuclear protein that binds both DNA and RNA to regulate gene expression and chromatin architecture. It contains an N-terminal acidic region, a C-terminal RGG/RG RNA-binding domain, and a scaffold/matrix attachment region (SAR/MAR)-specific DNA-binding domain. hnRNP U is essential for pre-mRNA processing, transcriptional regulation, telomere-length control, and the higher-order organization of chromatin. Clinically, HNRNPU haploinsufficiency or pathogenic variants are well-established causes of an early-onset developmental and epileptic encephalopathy characterized by global developmental delay, intellectual disability, hypotonia, and seizures. Additionally, dysregulated expression of hnRNP U has been linked to tumorigenesis in various cancers, reflecting its critical role in maintaining genomic and transcriptomic stability.