人 GPATCH8 抗体对
01AB03123
G-patch domain-containing protein 8 (GPATCH8) is a human protein encoded by the GPATCH8 gene that features an RNA-processing domain, a zinc finger domain, a lysine-rich region, and a serine-rich region. GPATCH8 is functionally involved in RNA splicing, particularly in quality control of branchpoint selection during the splicing process. It interacts with the RNA helicase DHX15 and opposes another G-patch protein, SUGP1, affecting RNA splicing dynamics. Mutations in GPATCH8 have been linked to diseases including hyperuricemia associated with osteogenesis imperfecta, and importantly, the protein modulates aberrant RNA splicing driven by SF3B1 mutations, which are prevalent in hematologic malignancies such as myelodysplastic syndromes and leukemias. Silencing GPATCH8 has been shown to correct a significant portion of mutant SF3B1-induced mis-splicing and improve hematopoiesis in models, highlighting it as a potential therapeutic target in SF3B1-mutant cancers and other splicing-related blood disorders.
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技术参数
- 靶点基因名
- GPATCH8
- 基因别名
- GPATC8; KIAA0553
- 蛋白别名
- G-patch domain containing 8; GPATCH8
- UniProt
- Q9UKJ3
- 物种
- Human
产品详情
- 靶点名称
- GPATCH8
- 蛋白名称
- G-patch domain containing 8
- 蛋白别名
- G patch domain-containing protein 8
- 靶点基因名
- GPATCH8
- 基因别名
- GPATC8; KIAA0553
- UniProt
- Q9UKJ3
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
G-patch domain-containing protein 8 (GPATCH8) is a human protein encoded by the GPATCH8 gene that features an RNA-processing domain, a zinc finger domain, a lysine-rich region, and a serine-rich region. GPATCH8 is functionally involved in RNA splicing, particularly in quality control of branchpoint selection during the splicing process. It interacts with the RNA helicase DHX15 and opposes another G-patch protein, SUGP1, affecting RNA splicing dynamics. Mutations in GPATCH8 have been linked to diseases including hyperuricemia associated with osteogenesis imperfecta, and importantly, the protein modulates aberrant RNA splicing driven by SF3B1 mutations, which are prevalent in hematologic malignancies such as myelodysplastic syndromes and leukemias. Silencing GPATCH8 has been shown to correct a significant portion of mutant SF3B1-induced mis-splicing and improve hematopoiesis in models, highlighting it as a potential therapeutic target in SF3B1-mutant cancers and other splicing-related blood disorders.