抗人 DOP1B 抗体对
01AB02820
DOP1 leucine zipper like protein B (DOP1B) is encoded by the DOP1B gene located on human chromosome 21 at band 21q22.12. The protein is large, comprising 2298 amino acids with structural features including an N-terminal domain, seven transmembrane domains, and a C-terminal leucine zipper-like coiled coil domain, suggesting involvement in transcription factor interactions and protein-protein binding. This indicates a potential role as a transcription co-activator. DOP1B is ubiquitously expressed, particularly in differentiating tissues such as the brain, placenta, and erythroleukemia cells, and is localized mainly in the Golgi membrane, trans-Golgi network, cytosol, and extracellular exosomes. Functionally, DOP1B is implicated in cell differentiation, developmental patterning, cognition, and intracellular membrane transport between the Golgi and endosomes. Clinically, DOP1B overexpression (gene triplication) has been linked to Down Syndrome phenotypes, particularly intellectual disability and altered brain cell architecture, paralleling cognitive deficits seen in the condition. Additionally, mutations in DOP1B have been implicated in autosomal recessive Peters anomaly, a developmental eye disorder.
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技术参数
- 靶点基因名
- DOP1B
- 基因别名
- C21orf5; DOPEY2; KIAA0933
- 蛋白别名
- DOP1 leucine zipper like protein B; DOP1B
- UniProt
- Q9Y3R5
- 物种
- Human
产品详情
- 靶点名称
- DOP1B
- 蛋白名称
- DOP1 leucine zipper like protein B
- 蛋白别名
- Protein dopey-2
- 靶点基因名
- DOP1B
- 基因别名
- C21orf5; DOPEY2; KIAA0933
- UniProt
- Q9Y3R5
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
DOP1 leucine zipper like protein B (DOP1B) is encoded by the DOP1B gene located on human chromosome 21 at band 21q22.12. The protein is large, comprising 2298 amino acids with structural features including an N-terminal domain, seven transmembrane domains, and a C-terminal leucine zipper-like coiled coil domain, suggesting involvement in transcription factor interactions and protein-protein binding. This indicates a potential role as a transcription co-activator. DOP1B is ubiquitously expressed, particularly in differentiating tissues such as the brain, placenta, and erythroleukemia cells, and is localized mainly in the Golgi membrane, trans-Golgi network, cytosol, and extracellular exosomes. Functionally, DOP1B is implicated in cell differentiation, developmental patterning, cognition, and intracellular membrane transport between the Golgi and endosomes. Clinically, DOP1B overexpression (gene triplication) has been linked to Down Syndrome phenotypes, particularly intellectual disability and altered brain cell architecture, paralleling cognitive deficits seen in the condition. Additionally, mutations in DOP1B have been implicated in autosomal recessive Peters anomaly, a developmental eye disorder.