人 SH3KBP1 抗体对
01AB02293
SH3 domain containing kinase binding protein 1 (SH3KBP1) is a ubiquitous cytoplasmic adaptor protein that regulates clathrin-dependent endocytosis and the lysosomal degradation of receptor tyrosine kinases, such as EGFR and MET. By interacting with CBL and endophilins, it facilitates receptor down-regulation and modulates downstream PI3K and MAPK signaling pathways. SH3KBP1 also plays essential roles in cytoskeletal organization, cell migration, and B-cell activation. Clinically, pathogenic variants in SH3KBP1 cause Immunodeficiency 61, an X-linked disorder characterized by recurrent infections and impaired B-cell function. The gene is also associated with autism spectrum disorder and is implicated in cancer-related signaling networks due to its involvement in apoptosis and growth factor receptor trafficking.
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技术参数
- 靶点基因名
- SH3KBP1
- 基因别名
- CIN85
- 蛋白别名
- SH3 domain containing kinase binding protein 1; SH3KBP1
- UniProt
- Q96B97
- 物种
- Human
产品详情
- 靶点名称
- SH3KBP1
- 蛋白名称
- SH3 domain containing kinase binding protein 1
- 蛋白别名
- SH3 domain-containing kinase-binding protein 1; CD2-binding protein 3; CD2BP3; Cbl-interacting protein of 85 kDa; Human Src family kinase-binding protein 1; HSB-1
- 靶点基因名
- SH3KBP1
- 基因别名
- CIN85
- UniProt
- Q96B97
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
SH3 domain containing kinase binding protein 1 (SH3KBP1) is a ubiquitous cytoplasmic adaptor protein that regulates clathrin-dependent endocytosis and the lysosomal degradation of receptor tyrosine kinases, such as EGFR and MET. By interacting with CBL and endophilins, it facilitates receptor down-regulation and modulates downstream PI3K and MAPK signaling pathways. SH3KBP1 also plays essential roles in cytoskeletal organization, cell migration, and B-cell activation. Clinically, pathogenic variants in SH3KBP1 cause Immunodeficiency 61, an X-linked disorder characterized by recurrent infections and impaired B-cell function. The gene is also associated with autism spectrum disorder and is implicated in cancer-related signaling networks due to its involvement in apoptosis and growth factor receptor trafficking.