人 UPF3B 抗体对
01AB02554
UPF3B regulator of nonsense mediated mRNA decay (UPF3B) is a key component of the mRNA surveillance machinery that identifies and degrades transcripts containing premature termination codons. It localizes to both the nucleus and cytoplasm, where it associates with the exon junction complex and interacts with UPF1 and UPF2 to couple translation termination with mRNA decay. UPF3B contains an RNA-recognition motif-like domain and a NOPS-L region that mediate high-affinity binding to RNA and the assembly of the NMD complex. Pathogenic variants in UPF3B are a known cause of X-linked intellectual disability, which may be accompanied by autism, epilepsy, and schizophrenia. These mutations often disrupt the interaction between UPF3B and UPF2, leading to impaired NMD efficiency and neurodevelopmental pathology.
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技术参数
- 靶点基因名
- UPF3B
- 基因别名
- RENT3B; UPF3X
- 蛋白别名
- UPF3B regulator of nonsense mediated mRNA decay; UPF3B
- UniProt
- Q9BZI7
- 物种
- Human
产品详情
- 靶点名称
- UPF3B
- 蛋白名称
- UPF3B regulator of nonsense mediated mRNA decay
- 蛋白别名
- Regulator of nonsense transcripts 3B; Nonsense mRNA reducing factor 3B; Up-frameshift suppressor 3 homolog B; hUpf3B; Up-frameshift suppressor 3 homolog on chromosome X; hUpf3p-X
- 靶点基因名
- UPF3B
- 基因别名
- RENT3B; UPF3X
- UniProt
- Q9BZI7
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
UPF3B regulator of nonsense mediated mRNA decay (UPF3B) is a key component of the mRNA surveillance machinery that identifies and degrades transcripts containing premature termination codons. It localizes to both the nucleus and cytoplasm, where it associates with the exon junction complex and interacts with UPF1 and UPF2 to couple translation termination with mRNA decay. UPF3B contains an RNA-recognition motif-like domain and a NOPS-L region that mediate high-affinity binding to RNA and the assembly of the NMD complex. Pathogenic variants in UPF3B are a known cause of X-linked intellectual disability, which may be accompanied by autism, epilepsy, and schizophrenia. These mutations often disrupt the interaction between UPF3B and UPF2, leading to impaired NMD efficiency and neurodevelopmental pathology.